{"id":4421,"date":"2020-07-21T11:26:55","date_gmt":"2020-07-21T02:26:55","guid":{"rendered":"https:\/\/www2.hiro-clinic.or.jp\/?p=4421"},"modified":"2025-07-23T11:31:46","modified_gmt":"2025-07-23T02:31:46","slug":"high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/","title":{"rendered":"NIPT\u8ad6\u6587\uff08\u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u9ad8\u89e3\u50cf\u5ea6\u30de\u30c3\u30d4\u30f3\u30b0\uff09"},"content":{"rendered":"\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/#%E3%82%A2%E3%83%AC%E3%82%A4%E6%AF%94%E8%BC%83%E3%82%B2%E3%83%8E%E3%83%A0%E3%83%8F%E3%82%A4%E3%83%96%E3%83%AA%E3%83%80%E3%82%A4%E3%82%BC%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E3%82%92%E7%94%A8%E3%81%84%E3%81%9F%E3%81%AD%E3%81%93%E3%81%AA%E3%81%8D%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E9%81%BA%E4%BC%9D%E5%AD%90%E5%9E%8B%E2%80%90%E8%A1%A8%E7%8F%BE%E5%9E%8B%E9%96%A2%E4%BF%82%E3%81%AE%E9%AB%98%E8%A7%A3%E5%83%8F%E5%BA%A6%E3%83%9E%E3%83%83%E3%83%94%E3%83%B3%E3%82%B0%E8%AB%96%E6%96%87%E3%81%AE%E7%BF%BB%E8%A8%B3%EF%BC%88%E3%83%92%E3%83%AD%E3%82%AF%E3%83%AA%E3%83%8B%E3%83%83%E3%82%AFNIPT%E4%BB%AE%E8%A8%B3%EF%BC%89\" 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\u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u60a3\u800594\u4f8b\u306e\u4e3b\u8981\u30c7\u30fc\u30bf\u306e\u8981\u7d04<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/#%E7%B5%90%E6%9E%9C\" >\u7d50\u679c<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/#%E3%82%A2%E3%83%AC%E3%82%A4CGH%E6%B8%AC%E5%AE%9A\" >\u30a2\u30ec\u30a4CGH\u6e2c\u5b9a<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/#%E8%80%83%E5%AF%9F\" >\u8003\u5bdf<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%E3%82%A2%E3%83%AC%E3%82%A4%E6%AF%94%E8%BC%83%E3%82%B2%E3%83%8E%E3%83%A0%E3%83%8F%E3%82%A4%E3%83%96%E3%83%AA%E3%83%80%E3%82%A4%E3%82%BC%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E3%82%92%E7%94%A8%E3%81%84%E3%81%9F%E3%81%AD%E3%81%93%E3%81%AA%E3%81%8D%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E9%81%BA%E4%BC%9D%E5%AD%90%E5%9E%8B%E2%80%90%E8%A1%A8%E7%8F%BE%E5%9E%8B%E9%96%A2%E4%BF%82%E3%81%AE%E9%AB%98%E8%A7%A3%E5%83%8F%E5%BA%A6%E3%83%9E%E3%83%83%E3%83%94%E3%83%B3%E3%82%B0%E8%AB%96%E6%96%87%E3%81%AE%E7%BF%BB%E8%A8%B3%EF%BC%88%E3%83%92%E3%83%AD%E3%82%AF%E3%83%AA%E3%83%8B%E3%83%83%E3%82%AFNIPT%E4%BB%AE%E8%A8%B3%EF%BC%89\"><\/span>\u30a2\u30ec\u30a4\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u3092\u7528\u3044\u305f\u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b50\u578b\u2010\u8868\u73fe\u578b\u95a2\u4fc2\u306e\u9ad8\u89e3\u50cf\u5ea6\u30de\u30c3\u30d4\u30f3\u30b0\u8ad6\u6587\u306e\u7ffb\u8a33\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u4eee\u8a33\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div class=\"wp-block-group authors\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p>Xiaoxiao Zhang<sup>1<\/sup>, Antoine Snijders<sup>1,2<\/sup>, Richard Segraves<sup>1<\/sup>, Xiuqing Zhang<sup>3<\/sup>, Anita Niebuhr<sup>4<\/sup>, Donna Albertson<sup>1,2<\/sup>, Huanming Yang<sup>5<\/sup>, Joe Gray<sup>1<\/sup>, Erik Niebuhr<sup>4<\/sup>, Lars Bolund<sup>3,5<\/sup>, and Dan Pinkel<sup>1<\/sup><\/p>\n<\/div><\/div>\n\n\n\n<div class=\"univercities\">\n<p><sup>1<\/sup> \u30ab\u30ea\u30d5\u30a9\u30eb\u30cb\u30a2\u5927\u5b66\u30b5\u30f3\u30d5\u30e9\u30f3\u30b7\u30b9\u30b3\u6821\u7dcf\u5408\u304c\u3093\u30bb\u30f3\u30bf\u30fc\u30fb\u5b9f\u9a13\u5ba4\u533b\u5b66\u79d1\u3001<sup>2<\/sup> \u30ab\u30ea\u30d5\u30a9\u30eb\u30cb\u30a2\u5927\u5b66\u30b5\u30f3\u30d5\u30e9\u30f3\u30b7\u30b9\u30b3\u6821\u304c\u3093\u7814\u7a76\u6240\u3001<sup>3<\/sup> \u30aa\u30fc\u30d5\u30b9\u5927\u5b66\u4eba\u9593\u907a\u4f1d\u5b66\u7814\u7a76\u6240\uff08\u30c7\u30f3\u30de\u30fc\u30af\u30fb\u30aa\u30fc\u30d5\u30b9\uff09\u3001<sup>4<\/sup> \u30b3\u30da\u30f3\u30cf\u30fc\u30b2\u30f3\u5927\u5b66\u533b\u7528\u751f\u5316\u5b66\u30fb\u907a\u4f1d\u5b66\u7814\u7a76\u6240\uff08\u30b3\u30da\u30f3\u30cf\u30fc\u30b2\u30f3\uff09\u3001<sup>5<\/sup> \u5317\u4eac\u5e02\u4e2d\u56fd\u79d1\u5b66\u9662\u5317\u4eac\u30b2\u30ce\u30e0\u7814\u7a76\u6240<\/p>\n<\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<section id=\"discription\">\u30a2\u30ec\u30a4\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u3092\u7528\u3044\u3066\u3001\u7279\u5fb4\u7684\u306a\u6ce3\u304d\u58f0\u3001\u97f3\u58f0\u9045\u5ef6\u3001\u9854\u9762\u7570\u5f62\u3001\u304a\u3088\u3073\u7cbe\u795e\u9045\u6ede(MR)\u30ec\u30d9\u30eb\u306e\u5b58\u5728\u306b\u3064\u3044\u3066\u614e\u91cd\u306b\u8a55\u4fa1\u3055\u308c\u305f\u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u60a3\u800594\u4eba\u306eDNA\u30b3\u30d4\u30fc\u6570\u5909\u5316\u3092\u30de\u30c3\u30d4\u30f3\u30b0\u3057\u305f\u3002 \u307b\u3068\u3093\u3069\u306e\u88ab\u9a13\u8005\u306f5p\u306e\u5358\u7d14\u6b20\u5931(\u7d42\u672b\u90e867\u4f8b\u3001\u9593\u8cea\u90e812\u4f8b)\u3092\u6709\u3057\u3066\u3044\u305f\u3002 \u907a\u4f1d\u5b50\u578b\u2010\u8868\u73fe\u578b\u76f8\u95a2\u306f\u3001\u9060\u4f4d5p15.31\u306e\u7279\u5fb4\u7684\u306a\u6ce3\u304d\u58f0\u3068\u95a2\u9023\u3059\u308b\u9818\u57df\u3001D5S2054\u3068D5S676\u30de\u30fc\u30ab\u30fc\u3092\u542b\u3080\u7d30\u83cc\u4eba\u5de5\u67d3\u8272\u4f53(BAC<sub>s<\/sub>)\u30015p15.32\uff5e15.33\u306e\u97f3\u58f0\u9045\u5ef63.2 Mb\u3001D5S417\u3068D5S635\u3092\u542b\u3080BAC<sub>s<\/sub>\u3001\u304a\u3088\u3073D5S208\u3068D5S2887\u3092\u542b\u3080BAC<sub>s<\/sub>\u306e\u9593\u306e5p15.2\uff5e15.31\u306e2.4 Mb\u306e\u9854\u9762\u7570\u5f62\u3068\u95a2\u9023\u3059\u308b\u9818\u57df\u306b\u9650\u5c40\u3057\u305f\u3002\u3053\u308c\u3089\u306e\u7d50\u679c\u306f\u91cd\u306a\u308a\u5408\u3044\u3001\u4ee5\u524d\u306e\u51fa\u7248\u7269\u3067\u5831\u544a\u3055\u308c\u305f\u3082\u306e\u3092\u6539\u826f\u3057\u305f\u3002 MR\u306f5p\u6b20\u5931\u30b5\u30a4\u30ba\u3068\u4f4d\u7f6e\u306b\u307b\u307c\u4f9d\u5b58\u3057\u305f\u304c\u30015p\u6b20\u5931\u3092\u8003\u616e\u3059\u308b\u3068\u9045\u5ef6\u304c\u4e0d\u91e3\u308a\u5408\u3044\u306b\u91cd\u5ea6\u3067\u3042\u3063\u305f\u75c7\u4f8b\u304c\u591a\u304b\u3063\u305f\u3002 \u3053\u308c\u3089\u306e15\u4f8b\u306e\u5168\u4f8b(\u91cd\u5ea6\u306e\u9045\u5ef6\u60a3\u8005\u306e\u7d042\/3)\u306f\u30015p\u6b20\u5931\u306b\u52a0\u3048\u3066\u30b3\u30d4\u30fc\u6570\u7570\u5e38\u3092\u6709\u3059\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u305f\u3002 5p\u6b20\u5931\u306e\u307f\u306e\u60a3\u8005\u3078\u306e\u691c\u8a0e\u5236\u9650\u306f\u3001\u3053\u306e\u3088\u3046\u306a\u6b20\u5931\u306e\u52b9\u679c\u3092\u660e\u3089\u304b\u306b\u3057\u3001\u9045\u5ef6\u306b\u5bfe\u3059\u308b\u7570\u306a\u308b\u52b9\u679c\u3092\u6301\u30643\u3064\u306e\u9818\u57df\u3001MRI\u2010III\u306e\u5b58\u5728\u3092\u793a\u5506\u3057\u305f\u3002 MRI\u3092\u542b\u3080\u6b20\u5931\u3001\u4ee5\u524d\u306b\u5b9a\u7fa9\u3055\u308c\u305fcri du chat critical\u9818\u57df\u306b\u91cd\u306a\u308a\u5408\u30461.2Mb\u9818\u57df\u306f\u3001MRII\u304a\u3088\u3073MRIII\u3092\u542b\u307e\u306a\u3044\u304c\u3001\u4e2d\u7a0b\u5ea6\u306e\u9045\u5ef6\u30ec\u30d9\u30eb\u3092\u751f\u3058\u305f\u3002 MRI\u306e\u3059\u3050\u8fd1\u4f4d\u306b\u4f4d\u7f6e\u3059\u308bMRII\u306b\u9650\u5b9a\u3055\u308c\u305f\u6b20\u5931\u306f\u3001\u3088\u308a\u8efd\u5ea6\u306e\u9045\u5ef6\u3092\u751f\u3058\u305f\u304c\u3001\u3088\u308a\u8fd1\u4f4d\u306eMRIII\u306b\u9650\u5b9a\u3055\u308c\u305f\u6b20\u5931\u306f\u3001\u8b58\u5225\u53ef\u80fd\u306a\u8868\u73fe\u578b\u3092\u751f\u3058\u306a\u304b\u3063\u305f\u3002 \u3057\u304b\u3057\u3001MRI\u3092\u542b\u3080\u6b20\u5931\u304cMRII\u304a\u3088\u3073MRIII\u306b\u5f90\u3005\u306b\u5e83\u304c\u308b\u306b\u3064\u308c\u3066MR\u306f\u5897\u52a0\u3057\u30013\u3064\u306e\u9818\u57df\u3059\u3079\u3066\u304c\u6b20\u5931\u3059\u308b\u3068MR\u306f\u9855\u8457\u306b\u306a\u3063\u305f\u3002\n<p>&nbsp;<\/p>\n<\/section>\n\n\n\n<section id=\"introduction\">\n<h2><span class=\"ez-toc-section\" id=\"%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\"><\/span>\u306f\u3058\u3081\u306b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>\u67d3\u8272\u4f535p\u306e\u6b20\u5931\u306f\u3055\u307e\u3056\u307e\u306a\u767a\u9054\u4e0a\u306e\u6b20\u640d\u3092\u3082\u305f\u3089\u3057\u3001\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4(MIM 123450)(Niebuhr 1978a)\u306b\u5206\u985e\u3055\u308c\u308b\u3002 \u3053\u308c\u3089\u306e\u6b20\u5931\u306f\u672b\u7aef\u307e\u305f\u306f\u9593\u8cea\u6027\u3067\u3042\u308a\u3001\u6642\u306b\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u306b\u8907\u96d1\u306a\u6838\u578b\u3068\u306e\u95a2\u9023\u3067\u8d77\u3053\u308b(Sreekantaiah et al. 1999). \u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u306b\u306f\u3001\u305d\u306e\u75c7\u5019\u7fa4\u306e\u540d\u524d\u3092\u4e0e\u3048\u308b\u7279\u5fb4\u7684\u306a\u6ce3\u304d\u58f0\u3001\u9854\u9762\u7570\u5f62\u3001\u97f3\u58f0\u9045\u5ef6\u3001\u7cbe\u795e\u9045\u6ede(MR)\u306a\u3069\u3001\u3044\u304f\u3064\u304b\u306e\u8868\u73fe\u578b\u306e\u8981\u7d20\u304c\u3042\u308b\u3002<br>\u3044\u304f\u3064\u304b\u306e\u4ee5\u524d\u306e\u7814\u7a76\u3067\u306f\u30015p\u4e0a\u306e\u6b20\u5931\u30bb\u30b0\u30e1\u30f3\u30c8\u306e\u7bc4\u56f2\u3068\u8868\u73fe\u578b\u3068\u306e\u95a2\u9023\u304c\u793a\u3055\u308c\u3066\u3044\u308b(Overhauser et al. 1994; Church et al. 1997; Marinescu et al. 1999a; Mainardi et al. 2001)\u3002\u3057\u304b\u3057\u306a\u304c\u3089\u3001\u3053\u308c\u3089\u306e\u7814\u7a76\u306f\u3001\u524a\u9664\u3055\u308c\u305f\u9818\u57df\u306b\u5bfe\u3059\u308bMR\u306e\u95a2\u4fc2\u306b\u95a2\u3057\u3066\u3001\u3042\u308b\u7a0b\u5ea6\u4e00\u8cab\u6027\u306e\u306a\u3044\u7d50\u679c\u304a\u3088\u3073\u30b5\u30d6\u30b9\u30bf\u30f3\u30b9\u8ad6\u4e89\u3092\u3082\u305f\u3089\u3057\u305f\u3002 \u7570\u306a\u308b\u7d50\u679c\u306f\u3001\u8907\u6570\u306e\u89b3\u5bdf\u8005\u306b\u3088\u308b\u8868\u73fe\u578b\u306e\u4e00\u8cab\u6027\u306e\u306a\u3044\u8a55\u4fa1\u3001\u3044\u304f\u3064\u304b\u306e\u8868\u73fe\u578b\u7279\u6027\u306e\u9855\u8457\u6027\u306e\u5e74\u9f62\u4f9d\u5b58\u6027\u306b\u5bfe\u3059\u308b\u8003\u616e\u306e\u6b20\u5982\u3001\u304a\u3088\u3073\u907a\u4f1d\u5b50\u578b\u306e\u8a55\u4fa1\u306b\u4f7f\u7528\u3055\u308c\u308b\u5206\u6790\u6280\u8853\u306e\u9650\u754c\u306a\u3069\u306e\u8981\u56e0\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044(Wilkinset al. 1983; Church et al. 1995; Marinescu et al. 1999a; Johnson et al. 2000)\u3002\u672c\u7814\u7a76\u3067\u306f\u3001\u3053\u308c\u3089\u306e\u6f5c\u5728\u7684\u554f\u984c\u306e\u5168\u3066\u3092\u53d6\u308a\u4e0a\u3052\u305f\u3002<\/p>\n<p>\u4ee5\u524d\u306e\u907a\u4f1d\u5b50\u578b\u89e3\u6790\u3067\u306f\u3001\u5f93\u6765\u306e\u7d30\u80de\u907a\u4f1d\u5b66\u3001FISH\u3001\u591a\u578b\u30de\u30fc\u30ab\u30fc\u3001\u304a\u3088\u3073\u6700\u8fd1\u3067\u306f\u67d3\u8272\u4f53\u30d9\u30fc\u30b9\u306e\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3(CGH)\u304c\u7528\u3044\u3089\u308c\u3066\u304d\u305f\u3002(Marinescu et al. 1999b; Levy et al. 2002) \u7570\u5e38\u306e\u6027\u8cea\u3092\u691c\u51fa\u3057\u3001\u5b9a\u7fa9\u3059\u308b\u3002<br>\u5f93\u6765\u306e\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u89e3\u6790\u306f\u5168\u30b2\u30ce\u30e0\u306e\u6982\u89b3\u3092\u63d0\u4f9b\u3059\u308b\u304c\u3001\u89e3\u50cf\u5ea6\u306f\u9650\u3089\u308c\u3066\u3044\u308b\u3002 \u3057\u305f\u304c\u3063\u3066\u3001\u53ce\u5dee\u306e\u5883\u754c\u306f\u4e0d\u6b63\u78ba\u306b\u8a2d\u5b9a\u3055\u308c\u3001\u5c0f\u3055\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u3001\u8907\u96d1\u306a\u7570\u5e38\u306f\u4e0d\u9069\u5207\u306b\u540c\u5b9a\u3055\u308c\u308b\u3002 FISH\u304a\u3088\u3073\u591a\u578b\u30de\u30fc\u30ab\u30fc\u306f\u3001\u30b2\u30ce\u30e0\u914d\u5217\u306b\u5bfe\u3059\u308b\u7570\u5e38\u306e\u6b63\u78ba\u306a\u8a55\u4fa1\u304a\u3088\u3073\u7570\u5e38\u306e\u30de\u30c3\u30d4\u30f3\u30b0\u3092\u53ef\u80fd\u306b\u3059\u308b\u304c\u3001\u30d7\u30ed\u30fc\u30d6\u306f\u500b\u3005\u306b\u307e\u305f\u306f\u5c11\u6570\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u8a55\u4fa1\u3055\u308c\u306a\u3051\u308c\u3070\u306a\u3089\u306a\u3044\u305f\u3081\u3001\u304b\u306a\u308a\u306e\u52aa\u529b\u3092\u5fc5\u8981\u3068\u3059\u308b\u3002 \u3057\u305f\u304c\u3063\u3066\u3001\u591a\u6570\u306e\u907a\u4f1d\u5b50\u5ea7\u304a\u3088\u3073\u30b5\u30f3\u30d7\u30eb\u306e\u7814\u7a76\u306f\u975e\u5e38\u306b\u52b4\u529b\u3092\u8981\u3059\u308b\u3002 \u67d3\u8272\u4f53CGH\u306f\u3001\u5358\u4e00\u306e\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u3067DNA\u30b3\u30d4\u30fc\u6570\u5909\u5316\u306e\u5168\u30b2\u30ce\u30e0\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u304c\u3001\u305d\u306e\u89e3\u50cf\u5ea6\u306f\u7d045\uff5e10 Mb\u306b\u5236\u9650\u3055\u308c\u3001\u7d50\u679c\u306f\u30b2\u30ce\u30e0\u914d\u5217\u4e0a\u306b\u76f4\u63a5\u30de\u30c3\u30d4\u30f3\u30b0\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u306a\u3044\u3002<\/p>\n<p>\u6700\u8fd1\u3001\u8457\u8005\u3089\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>CGH\u3092\u5b9f\u65bd\u3059\u308b\u65b9\u6cd5\u3092\u958b\u767a\u3057\u305f(Solinas-Toldo et al. 1997; Pinkel et al. 1998; Pollack et al. 1999; Snijders et al. 2001; Fiegler et al. 2003). \u6211\u3005\u306e\u30a2\u30ec\u30a4\u306f\u3001BACS\u3084PACS\u306a\u3069\u306e\u5927\u578b\u633f\u5165\u30b2\u30ce\u30e0\u30af\u30ed\u30fc\u30f3\u304b\u3089\u4f5c\u88fd\u3055\u308c\u305f\u30a2\u30ec\u30a4\u30a8\u30ec\u30e1\u30f3\u30c8\u3092\u4f7f\u7528\u3057\u3001\u500b\u3005\u306e\u30af\u30ed\u30fc\u30f3\u306b\u5f71\u97ff\u3059\u308b\u5358\u4e00\u30b3\u30d4\u30fc\u7570\u5e38\u306e\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u691c\u51fa\u3092\u53ef\u80fd\u306b\u3059\u308b\u306e\u306b\u5341\u5206\u306a\u6e2c\u5b9a\u7cbe\u5ea6\u3092\u6709\u3059\u308b\u3002 \u30b2\u30ce\u30e0\u914d\u5217\u4e0a\u306e\u5404\u30af\u30ed\u30fc\u30f3\u306e\u4f4d\u7f6e\u306f\u3001STS\u307e\u305f\u306f\u672b\u7aef\u914d\u5217\u306a\u3069\u306e\u914d\u5217\u30bf\u30b0\u3092\u7528\u3044\u3066\u6c7a\u5b9a\u3055\u308c\u308b\u3002 \u3053\u306e\u3088\u3046\u306a\u30a2\u30ec\u30a4\u3067\u5f97\u3089\u308c\u308b\u89e3\u50cf\u5ea6\u306f\u3001\u30af\u30ed\u30fc\u30f3\u9593\u306e\u30b2\u30ce\u30e0\u9593\u9694\u304a\u3088\u3073\u30af\u30ed\u30fc\u30f3\u9577\u306b\u3088\u3063\u3066\u6c7a\u5b9a\u3055\u308c\u308b\u3002 \u91cd\u8907\u30af\u30ed\u30fc\u30f3(Albertson et al. 2000) \u3092\u7528\u3044\u308b\u3053\u3068\u306b\u3088\u308a\u3001BAC\u306e\u9577\u3055\u306e\u4e00\u90e8\u306e\u89e3\u50cf\u5ea6\u3092\u5f97\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3002<\/p>\n<p>\u672c\u7814\u7a76\u3067\u306f\u3001\u30a2\u30ec\u30a4CGH\u3092\u3001\u901a\u5e38\u306e\u7d30\u80de\u907a\u4f1d\u5b66\u304a\u3088\u3073FISH\u3092\u7528\u3044\u30665p\u306b\u6b20\u5931\u3092\u6709\u3059\u308b\u3068\u6c7a\u5b9a\u3055\u308c\u305f94\u4eba\u306e\u60a3\u8005\u306e\u30b2\u30ce\u30e0DNA\u306e\u5206\u6790\u306b\u9069\u7528\u3057\u305f\u3002 \u3053\u308c\u3089\u306e\u6a19\u672c\u306f\u3001\u6211\u3005\u306e\u5206\u6790\u306b\u5148\u7acb\u3063\u3066\u3001\u898f\u6e96\u306b\u5408\u81f4\u3059\u308b\u8a73\u7d30\u306a\u8868\u73fe\u578b\u8a55\u4fa1\u3092\u53d7\u3051\u305f5p\u6b20\u5931\u75c7\u4f8b\u306e\u96c6\u7a4d\u304b\u3089\u9078\u629e\u3057\u305f(Niebuhr 1978b;\u8457\u8005\u3089\u306e\u672a\u767a\u8868\u7d50\u679c)\u3002 \u8a55\u4fa1\u306f\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306b\u5bfe\u3057\u3066\u6570\u6b73\u3067\u5b9f\u65bd\u3057\u3001\u8868\u73fe\u578b\u304c\u6700\u3082\u3088\u304f\u8a55\u4fa1\u3055\u308c\u308b\u958b\u767a\u6bb5\u968e\u3067\u78ba\u7acb\u3067\u304d\u308b\u3088\u3046\u306b\u3057\u305f\u3002 \u3053\u308c\u3089\u306e\u75c7\u4f8b\u306e\u30b5\u30d6\u30bb\u30c3\u30c8\u306f\u30015p\u6b20\u5931\u306e\u5f71\u97ff\u3068\u907a\u4f1d\u5b50\u578b-\u8868\u73fe\u578b\u76f8\u95a2\u306e\u4ee5\u524d\u306e\u7814\u7a76\u306b\u542b\u307e\u308c\u3066\u3044\u308b(Overhauser et al. 1990, 1994; Church et al. 1995, 1997). \u8457\u8005\u3089\u306e\u7d50\u679c\u306f\u3001\u3053\u308c\u3089\u306e\u60a3\u8005\u306e\u8a55\u4fa1\u306e\u305f\u3081\u306e\u30a2\u30ec\u30a4CGH\u306e\u4fa1\u5024\u3092\u793a\u3057\u3001\u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308bMR\u3001\u97f3\u58f0\u9045\u5ef6\u3001\u9854\u9762\u7570\u5f62\u3001\u304a\u3088\u3073\u7279\u5fb4\u7684\u306a\u6ce3\u304d\u58f0\u306e\u907a\u4f1d\u5b50\u578b\u2010\u8868\u73fe\u578b\u76f8\u95a2\u3092\u660e\u3089\u304b\u306b\u3057\u3001\u6539\u826f\u3059\u308b\u3053\u3068\u3092\u53ef\u80fd\u306b\u3057\u305f\u3002<\/p>\n<aside>2004\u5e749\u670823\u65e5\u53d7\u9818;2004\u5e7411\u670822\u65e5\u516c\u958b\u53d7\u7406;2005\u5e741\u67084\u65e5\u96fb\u5b50\u51fa\u7248\u3055\u308c\u307e\u3057\u305f\u3002<br>\u901a\u4fe1\u3068\u8ee2\u8f09\u306e\u5b9b\u5148:\u30ab\u30ea\u30d5\u30a9\u30eb\u30cb\u30a2\u5927\u5b66\u30b5\u30f3\u30d5\u30e9\u30f3\u30b7\u30b9\u30b3\u6821Dr. Daniel Pinkel, Box 0808, San Francisco, CA94143\u3002<br>\u96fb\u5b50\u30e1\u30fc\u30eb: pinkel@cc.ucsf.edu\n<p>&nbsp;<\/p>\n<p>2005\u5e74\u7c73\u56fd\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u306b\u3088\u3063\u3066\u3002\u3059\u3079\u3066\u306e\u6a29\u5229\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002<br>0002-9297\/2005\/7602-0018$15.00<\/p>\n<\/aside>\n<\/section>\n\n\n\n<hr class=\"wp-block-separator has-css-opacity\"\/>\n\n\n\n<section id=\"methods\">\n<h2><span class=\"ez-toc-section\" id=\"%E6%96%B9%E6%B3%95\"><\/span>\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>\u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u306e\u60a3\u8005<\/p>\n<p>\u88ab\u9a13\u8005\u306f\u3001\u904e\u53bb\u6570\u5341\u5e74\u9593\u306b\u6211\u3005\u306e1\u4eba(E.N.)\u306b\u3088\u3063\u3066\u5e83\u7bc4\u306b\u7814\u7a76\u3055\u308c\u305f5p\u6b20\u5931\u60a3\u8005150\u4eba\u4ee5\u4e0a\u306e\u30b0\u30eb\u30fc\u30d7\u304b\u3089\u9078\u629e\u3055\u308c\u305f\u3002 \u8a73\u7d30\u306a\u81e8\u5e8a\u30c7\u30fc\u30bf\u304a\u3088\u3073\u30b2\u30ce\u30e0DNA\u304c\u5165\u624b\u3067\u304d\u308c\u3070\u3001\u88ab\u9a13\u8005\u3092\u7d44\u307f\u5165\u308c\u305f\u3002 \u3055\u3089\u306a\u308b\u7814\u7a76\u3092\u5bb9\u6613\u306b\u3059\u308b\u305f\u3081\u306b\u3001\u8457\u8005\u3089\u306f\u3001\u4ee5\u524d\u306e\u7814\u7a76\u304c\u7570\u5e38\u306a\u67d3\u8272\u4f53\u304a\u3088\u3073\u7570\u5e38\u306a5\u756a\u67d3\u8272\u4f53\u3068\u306e\u4f53\u7d30\u80de\u30cf\u30a4\u30d6\u30ea\u30c3\u30c9\u306e\u89aa\u8d77\u6e90\u306b\u95a2\u3059\u308b\u77e5\u8b58\u3092\u63d0\u4f9b\u3057\u3001\u5bb6\u65cf\u6027\u30b2\u30ce\u30e0DNA\u304c\u5229\u7528\u53ef\u80fd\u3067\u3042\u3063\u305f\u88ab\u9a13\u8005\u306e\u307f\u3092\u5206\u6790\u3057\u305f\u3002 \u307b\u3068\u3093\u3069\u306e\u88ab\u9a13\u8005\u306b\u3064\u3044\u3066\u3001\u5f93\u6765\u306e\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u5206\u6790\u306e\u7d50\u679c\u304c\u5229\u7528\u53ef\u80fd\u3067\u3042\u3063\u305f\u3002<a href=\"#table_1\">\u88681<\/a>\u306f\u300194\u4eba\u306e\u9069\u683c\u306a\u88ab\u9a13\u8005\u3092\u30ea\u30b9\u30c8\u30a2\u30c3\u30d7\u3057\u3001\u8868\u73fe\u578b\u8a55\u4fa1\u3001\u5f93\u6765\u306e\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u8a55\u4fa1\u3001\u304a\u3088\u3073\u30a2\u30ec\u30a4\u7d50\u679c\u3092\u542b\u3080\u3002\u60a3\u8005\u756a\u53f71\uff5e69\u306f\u3001\u30c7\u30f3\u30de\u30fc\u30af\u306e\u9023\u7d9a\u3057\u305f(\u8a3a\u65ad\u6642\u306e)\u5bb6\u65cf\u3092\u6307\u3059\u3002 100\u4eba\u4ee5\u4e0a\u306e\u60a3\u8005\u306f\u3001\u4ed6\u56fd\u304b\u3089\u306e\u60a3\u8005\u3067\u3042\u308a\u3001\u30ce\u30eb\u30a6\u30a7\u30fc\u304b\u3089\u306e\u60a3\u8005100\uff5e117\u4eba\u3001\u30a4\u30ae\u30ea\u30b9\u304b\u3089\u306e\u60a3\u8005201\uff5e256\u4eba\u3001\u30c1\u30a7\u30b3\u30b9\u30ed\u30d0\u30ad\u30a2\u304b\u3089\u306e\u60a3\u8005300\u4eba\u3001\u304a\u3088\u3073\u30aa\u30fc\u30b9\u30c8\u30e9\u30ea\u30a2\u304b\u3089\u306e\u60a3\u8005402\u4eba\u3067\u3042\u308a\u3001\u3088\u308a\u8a73\u7d30\u306a\u81e8\u5e8a\u7684\u304a\u3088\u3073\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u8a55\u4fa1\u306e\u305f\u3081\u306b\u7d39\u4ecb\u3055\u308c\u305f\u3002 \u3057\u305f\u304c\u3063\u3066\u3001\u3053\u308c\u3089\u306e\u75c7\u4f8b\u306f\u30015p\u6b20\u5931\u3092\u3082\u3064\u500b\u4f53\u306e\u6e96\u30e9\u30f3\u30c0\u30e0\u30b5\u30f3\u30d7\u30ea\u30f3\u30b0\u3067\u3042\u308b\u3002 \u3053\u308c\u3089\u306e\u691c\u4f53\u306e\u30a2\u30ec\u30a4CGH\u6e2c\u5b9a\u306f\u3001\u30ab\u30ea\u30d5\u30a9\u30eb\u30cb\u30a2\u5927\u5b66\u30b5\u30f3\u30d5\u30e9\u30f3\u30b7\u30b9\u30b3\u6821\u306e\u6cbb\u9a13\u5be9\u67fb\u59d4\u54e1\u4f1a\u304b\u3089\u9069\u5207\u306a\u627f\u8a8d\u3092\u5f97\u305f\u5f8c\u306b\u5b9f\u65bd\u3057\u305f\u3002<\/p>\n<p>\u8868\u73fe\u578b\u306e\u7279\u5fb4\u3092\u5358\u4e00\u89b3\u5bdf\u8005(E.N.)\u306b\u3088\u308a\u8a55\u4fa1\u3057\u3001\u5206\u985e\u57fa\u6e96\u3092\u4e00\u69d8\u306b\u9069\u7528\u3057\u305f\u3002 \u8868\u73fe\u578b\u306e\u5074\u9762\u306f\u767a\u9054\u4e2d\u306b\u5909\u5316\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306f5\u6b73\u672a\u6e80\u306e\u5834\u5408\u3068\u30015\u6b73\u4ee5\u4e0a\u306e\u5834\u5408\u306b\u518d\u5ea6\u8a55\u4fa1\u3055\u308c\u305f\u3002 \u8868\u73fe\u578b\u306e\u7279\u5fb4\u306e\u6709\u7121\u306f\u3001\u88681\u306b\u304a\u3044\u3066\u3001\u305d\u308c\u305e\u308c\u300cY\u300d\u307e\u305f\u306f\u300cN\u300d\u3067\u6a19\u8b58\u3055\u308c\u308b\u3002 \u30c7\u30fc\u30bf\u306e\u6b20\u5982\u306f\u300cND\u300d\u3067\u793a\u3055\u308c\u3066\u304a\u308a\u3001\u8868\u73fe\u578b\u306e\u7279\u5fb4\u306f\u5e74\u9f62\u306b\u4f9d\u5b58\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u3044\u305a\u308c\u306e\u5e74\u9f62\u5c64\u306e\u88ab\u9a13\u8005\u306b\u3082\u300cY\u300d\u304c\u5b58\u5728\u3059\u308b\u5834\u5408\u306f\u3001\u305d\u306e\u8868\u73fe\u578b\u306e\u7279\u5fb4\u304c\u967d\u6027\u3067\u3042\u308b\u3068\u5206\u985e\u3055\u308c\u308b\u3002 \u4f8b\u3048\u3070\u3001\u6ce3\u304d\u58f0\u304a\u3088\u3073\u9854\u9762\u306e\u5f62\u614b\u7570\u5e38\u306f\u3001\u60a3\u8005\u304c\u82e5\u3044\u3068\u304d\u306b\u6700\u3082\u9855\u8457\u3067\u3042\u308a\u3001\u3057\u305f\u304c\u3063\u3066\u3001\u9ad8\u9f62\u7fa4\u306b\u304a\u3051\u308b\u3053\u308c\u3089\u306e\u8868\u73fe\u578b\u306e\u55aa\u5931\u306f\u6709\u610f\u3067\u3042\u308b\u3068\u306f\u307f\u306a\u3055\u308c\u306a\u304b\u3063\u305f\u3002 \u3044\u304f\u3064\u304b\u306e\u60a3\u8005\u306f\u30011\u3064\u306e\u5e74\u9f62\u7bc4\u56f2\u3067\u7279\u5b9a\u306e\u8868\u73fe\u578b\u3092\u793a\u3055\u305a(\u300cN\u300d\u3067\u793a\u3055\u308c\u308b)\u3001\u4ed6\u306e\u60a3\u8005\u3067\u306f\u30c7\u30fc\u30bf\u304c\u5165\u624b\u3067\u304d\u305a\u3001\u305d\u306e\u7d50\u679c\u3001\u8868\u73fe\u578b\u306e\u72b6\u614b\u306b\u4e0d\u78ba\u5b9f\u6027\u304c\u751f\u3058\u305f\u3002 \u3053\u306e\u3088\u3046\u306a\u75c7\u4f8b\u306f\u3001\u305d\u306e\u7279\u5fb4\u3068\u907a\u4f1d\u5b50\u578b\u3068\u306e\u95a2\u4fc2\u306e\u6c7a\u5b9a\u304b\u3089\u9664\u5916\u3055\u308c\u305f\u3002 \u3057\u305f\u304c\u3063\u3066\u3001\u60a3\u800518\u300145\u300156\u3001112\u3001\u304a\u3088\u3073117\u306f\u3001\u30af\u30e9\u30a4\u9818\u57df\u3092\u5b9a\u7fa9\u3059\u308b\u305f\u3081\u306b\u4f7f\u7528\u3055\u308c\u305a\u3001\u60a3\u800556\u304a\u3088\u3073112\u306f\u3001\u9854\u9762\u5f62\u614b\u7570\u5e38\u306b\u95a2\u9023\u3059\u308b\u30b2\u30ce\u30e0\u9818\u57df\u3092\u6c7a\u5b9a\u3059\u308b\u305f\u3081\u306b\u4f7f\u7528\u3055\u308c\u306a\u304b\u3063\u305f\u3002 \u6700\u3082\u91cd\u5ea6\u306e\u7cbe\u795e\u969c\u5bb3\u3092\u6709\u3059\u308b\u60a3\u8005\u306f\u3001\u4ed6\u306e\u7406\u7531\u3067\u767a\u8a71\u80fd\u529b\u304c\u969c\u5bb3\u3055\u308c\u3066\u3044\u305f\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u767a\u8a71\u9045\u5ef6\u9818\u57df\u306e\u78ba\u5b9a\u306b\u306f\u4f7f\u7528\u3057\u306a\u304b\u3063\u305f\u3002 \u3057\u305f\u304c\u3063\u3066\u3001\u60a3\u800545\u306f\u3001\u8868\u73fe\u578b\u306e\u97f3\u58f0\u6210\u5206\u306e\u4f4d\u7f6e\u3092\u7279\u5b9a\u3059\u308b\u305f\u3081\u306b\u4f7f\u7528\u3055\u308c\u306a\u304b\u3063\u305f\u3002<\/p>\n<p>MR\u306e\u91cd\u75c7\u5ea6\u3092\u5b9a\u7fa9\u3059\u308b\u7cbe\u795e\u904b\u52d5\u767a\u9054\u8a55\u4fa1\u306f\u3001\u500b\u4eba\u7684\u89b3\u5bdf(E.N.)\u3001\u6587\u66f8\u60c5\u5831\u3001\u5fc3\u7406\u5b66\u7684\u691c\u67fb\u3001\u5b66\u6821\u6210\u7e3e\u60c5\u5831\u306a\u3069\u306b\u57fa\u3065\u3044\u305f\u3002 MR\u306f\u5e7c\u5150\u3067\u306f\u8a55\u4fa1\u304c\u56f0\u96e3\u3067\u3042\u308b\u305f\u3081\u3001\u6b20\u5931\u3068\u306e\u76f8\u95a2\u306b\u306f5\u6b73\u4ee5\u4e0a\u306e\u30c7\u30fc\u30bf\u3092\u6709\u3059\u308b\u60a3\u8005\u306e\u307f\u3092\u7528\u3044\u305f\u3002 \u3057\u305f\u304c\u3063\u3066\u300122\u4f8b\u3001225\u4f8b\u3001231\u4f8b\u306f\u672c\u89e3\u6790\u304b\u3089\u9664\u5916\u3057\u305f\u3002 MR\u306e\u7a0b\u5ea6\u306f\u30010(\u5f71\u97ff\u3092\u53d7\u3051\u3066\u3044\u306a\u3044)\u304b\u30897(\u91cd\u5927\u306a\u5f71\u97ff\u3092\u53d7\u3051\u3066\u3044\u308b)\u306e\u7bc4\u56f2\u306e\u6570\u5024\u5c3a\u5ea6\u306b\u3088\u3063\u3066\u793a\u3055\u308c\u305f\u3002 \u5404\u5206\u985e\u306e\u4e00\u822c\u7684\u306a\u5224\u5b9a\u57fa\u6e96\u3092<a href=\"#table_2\">\u88682<\/a>\u306b\u793a\u3059\u3002 \u3053\u308c\u3089\u306e\u8a55\u4fa1\u306e\u4e0d\u78ba\u5b9f\u6027\u306f\u3001\u5c3a\u5ea6\u306e\u4e0b\u7aef\u3067\u00b10.5\uff5e\u4e0a\u7aef\u3067\u00b11.0\u306e\u7bc4\u56f2\u3067\u3042\u308b\u3068\u63a8\u5b9a\u3055\u308c\u308b\u3002<\/p>\n<p>\u30a2\u30ec\u30a4-5p\u306e\u9ad8\u5206\u89e3\u80fd\u5206\u6790\u306e\u305f\u3081\u306e\u30a2\u30ec\u30a4\u306b\u306f\u3001\u907a\u4f1d\u7684\u306b\u30de\u30c3\u30d4\u30f3\u30b0\u3055\u308c\u305fSTS\u30de\u30fc\u30ab\u30fc\u3092\u7528\u3044\u3066\u9078\u629e\u3055\u308c\u305fBAC\u3001P1\u3001\u304a\u3088\u3073PAC\u30af\u30ed\u30fc\u30f3\u304b\u3089\u4f5c\u88fd\u3055\u308c\u305f\u30a8\u30ec\u30e1\u30f3\u30c8\u304c\u542b\u307e\u308c\u3066\u3044\u305f(Hudson et al. 1995; Peterson et al. 1999)\u3001\u304a\u3088\u3073\u6b63\u5e38\u5316\u304a\u3088\u3073\u305d\u306e\u4ed6\u306e\u7570\u5e38\u306e\u691c\u51fa\u306b\u4f7f\u7528\u3055\u308c\u305f\u4ed6\u306e\u67d3\u8272\u4f53\u4e0a\u306b\u4f4d\u7f6e\u3059\u308b\u30af\u30ed\u30fc\u30f3\u306e\u53ef\u5909\u6570\u3002 \u5168\u3066\u306e\u30af\u30ed\u30fc\u30f3\u306e\u4f4d\u7f6e\u306f\u3001\u30d2\u30c8\u30b2\u30ce\u30e0\u306e2003\u5e747\u6708\u306e\u30ab\u30ea\u30d5\u30a9\u30eb\u30cb\u30a2\u5927\u5b66\u30b5\u30f3\u30bf\u30af\u30eb\u30fc\u30ba(UCSC)\u51cd\u7d50\u306b\u57fa\u3065\u3044\u3066\u3044\u308b\u3002 5p\u306e\u88ab\u8986\u5bc6\u5ea6\u306f\u3001\u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u3067\u91cd\u8981\u3068\u4ee5\u524d\u306b\u5b9a\u7fa9\u3055\u308c\u305f\u9818\u57df\u3067\u6700\u3082\u9ad8\u304b\u3063\u305f\u3002 \u3053\u308c\u3089\u306e\u60a3\u8005\u3067\u8a8d\u3081\u3089\u308c\u305f5p\u7570\u5e38\u306e\u3059\u3079\u3066\u3092\u5305\u542b\u3059\u308b55\u30af\u30ed\u30fc\u30f3\u3092<a href=\"#table_3\">\u88683<\/a>\u306b\u793a\u3059\u3002\u30b2\u30ce\u30e0\u914d\u5217\u304c\u5b8c\u6210\u3059\u308b\u3068\u3001\u307b\u3068\u3093\u3069\u306e\u30af\u30ed\u30fc\u30f3\u3092\u6b63\u78ba\u306b\u30de\u30c3\u30d4\u30f3\u30b0\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3057\u305f\u3002<br>\u3057\u304b\u3057\u3001\u3044\u304f\u3064\u304b\u306e\u914d\u5217\u4f4d\u7f6e\u306f\u907a\u4f1d\u5730\u56f3\u60c5\u5831\u306b\u57fa\u3065\u3044\u3066\u88dc\u9593\u3057\u306a\u3051\u308c\u3070\u306a\u3089\u306a\u304b\u3063\u305f\u3002<br>\u5168\u60a3\u8005\u3092\u30015p\u4e0a\u306b55\u30af\u30ed\u30fc\u30f3\u3001\u304a\u3088\u3073\u4ed6\u306e\u4f4d\u7f6e\u306b\u3055\u3089\u306b100\uff5e300\u30af\u30ed\u30fc\u30f3\u3092\u542b\u3080\u30a2\u30ec\u30a4\u4e0a\u3067\u5206\u6790\u3057\u305f\u3002 \u5168\u30b2\u30ce\u30e0\u306b\u5206\u5e03\u3059\u308b\u7d041,750\uff5e2,000\u30af\u30ed\u30fc\u30f3\u3092\u542b\u3080\u7a2e\u3005\u306e\u30d0\u30fc\u30b8\u30e7\u30f3\u306e\u30a2\u30ec\u30a4\u306b\u3064\u3044\u3066\u3001\u60a3\u8005\u306e\u3046\u306137\u4eba\u3092\u5206\u6790\u3057\u305f(Snijders et al. 2001)\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u304c\u95a2\u4e0e\u3059\u308b\u7570\u5e38\u306e\u6709\u7121\u3092\u8abf\u3079\u308b\u3002 \u3053\u308c\u3089\u306e\u3088\u308a\u5927\u304d\u306a\u30a2\u30ec\u30a4\u306e\u3044\u304f\u3064\u304b\u306f\u30015p\u30af\u30ed\u30fc\u30f3\u306e\u5b8c\u5168\u306a\u30bb\u30c3\u30c8\u3092\u542b\u307e\u306a\u304b\u3063\u305f\u3002<\/p>\n<p>\u30a2\u30ec\u30a4\u30a8\u30ec\u30e1\u30f3\u30c8\u306eDNA\u3092\u30af\u30ed\u30fc\u30f3\u304b\u3089\u5358\u96e2\u3057\u3001\u30ea\u30f3\u30ab\u30fc-\u30a2\u30c0\u30d7\u30bf\u30fcPCR\u306b\u3088\u308a\u5897\u5e45\u3057\u305f\u3002 PCR\u7523\u7269\u3092\u3001\u7d040.8\u03bcg\/\u03bcl\u306e\u6fc3\u5ea6\u306e\u6c34\u4e2d20%\u30b8\u30e1\u30c1\u30eb\u30b9\u30eb\u30db\u30ad\u30b7\u30c9\u306b\u61f8\u6fc1\u3057\u305f(Snijders et al. 2001\u5e74\u3001\u30ad\u30e3\u30d4\u30e9\u30ea\u30fc\u30c1\u30e5\u30fc\u30d6\u5370\u5237\u30d4\u30f3(\u8457\u8005\u306e\u672a\u767a\u8868\u8cc7\u6599)\u3092\u4f7f\u7528\u3057\u305f\u7279\u6ce8\u30d7\u30ea\u30f3\u30bf\u3092\u4f7f\u7528\u3057\u3066\u30af\u30ed\u30e0\u88ab\u8986\u30b9\u30e9\u30a4\u30c9\u4e0a\u306b\u30b9\u30dd\u30c3\u30c8\u3057\u305f\u3002 \u5404\u30af\u30ed\u30fc\u30f3\u306b\u3064\u3044\u3066\u3001\u96a3\u63a5\u3059\u308b3\u3064\u306e\u30b9\u30dd\u30c3\u30c8\u3092\u5370\u5237\u3057\u305f\u3002 \u3088\u308a\u5c0f\u3055\u3044\u30a2\u30ec\u30a4\u306b\u3064\u3044\u3066\u306f\u3001\u30a2\u30ec\u30a4\u4e0a\u306e\u5e83\u304f\u5206\u96e2\u3055\u308c\u305f\u4f4d\u7f6e\u30672\u30bb\u30c3\u30c8\u306e3\u9023\u304c\u5370\u5237\u3055\u308c\u305f\u3002<\/p>\n<p>\u30a2\u30ec\u30a4CGH\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u304a\u3088\u3073\u5206\u6790-\u60a3\u8005\u304a\u3088\u3073\u5bfe\u7167\u88ab\u9a13\u8005\u306e\u672b\u68a2\u8840\u304b\u3089\u3001\u6a19\u6e96\u7684\u306a\u6280\u8853\u3092\u7528\u3044\u3066\u5168\u30b2\u30ce\u30e0DNA\u3092\u5358\u96e2\u3057\u3001\u3044\u305a\u308c\u304b\u306e\u30cb\u30c3\u30af\u7ffb\u8a33(1\u03bcg)\u3092\u7528\u3044\u3066DNA\u3092\u6a19\u8b58\u3057\u305f(Pinkel et al. 1998)\u3001\u307e\u305f\u306f\u30e9\u30f3\u30c0\u30e0\u30d7\u30e9\u30a4\u30de\u30fc\u4f38\u9577(0.5\u03bcg)(Snijders et al. 2001). \u6a19\u8b58\u306b\u306fdCTP\u306b\u76f4\u63a5\u7d50\u5408\u3057\u305f\u86cd\u5149\u8272\u7d20\u3092\u7528\u3044\u305f\u3002 \u3044\u304f\u3064\u304b\u306e\u6e2c\u5b9a\u3067\u306f\u3001\u30d5\u30eb\u30aa\u30ec\u30bb\u30a4\u30f3\u304a\u3088\u3073\u30c6\u30ad\u30b5\u30b9\u30ec\u30c3\u30c9(\u307e\u305f\u306fAlexa 594)\u3092\u4f7f\u7528\u3057\u305f\u304c\u3001\u4ed6\u306e\u6e2c\u5b9a\u3067\u306f\u3001\u8a66\u9a13\u30b2\u30ce\u30e0\u304a\u3088\u3073\u53c2\u7167\u30b2\u30ce\u30e0\u3092\u305d\u308c\u305e\u308c\u6a19\u8b58\u3059\u308b\u305f\u3081\u306bCy3\u304a\u3088\u3073Cy5\u3092\u4f7f\u7528\u3057\u305f\u3002<\/p>\n<p>\u53cd\u5fa9\u914d\u5217\u306e\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u3092\u6291\u5236\u3059\u308b\u305f\u3081\u306b\u542b\u307e\u308c\u308b50\u03bcg\u306eCot-1 DNA\u3068\u5171\u306b\u6a19\u8b58\u8a66\u9a13\u304a\u3088\u3073\u53c2\u7167\u30b2\u30ce\u30e0DNA\u3092\u3001\u30a8\u30bf\u30ce\u30fc\u30eb\u6c88\u6bbf\u3055\u305b\u3001\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u30df\u30c3\u30af\u30b9\u4e2d\u306b\u518d\u61f8\u6fc1\u3055\u305b\u3066\u300150\u03bcl\u306e\u5168\u5bb9\u7a4d\u306b\u5bfe\u3059\u308b50%\u30db\u30eb\u30e0\u30a2\u30df\u30c9\/10%\u786b\u9178\u30c7\u30ad\u30b9\u30c8\u30e9\u30f3\/2# SSC\/1%-4%(v\/v)SDS\u306e\u6700\u7d42\u7d44\u6210\u306b\u3057\u305f\u3002<br>\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u6df7\u5408\u7269\u309270\u2103\u306b\u52a0\u71b1\u3057\u3066DNA\u3092\u5909\u6027\u3055\u305b\u3001\u6e29\u5ea6\u3092\u7d041\u6642\u959337\u2103\u306b\u4e0b\u3052\u3066\u3001\u53cd\u5fa9\u914d\u5217\u306e\u518d\u4f1a\u5408\u3092\u53ef\u80fd\u306b\u3057\u305f\u3002 \u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u306e\u305f\u3081\u306b\u3001\u30a2\u30ec\u30a4\u306e\u5468\u56f2\u306b\u30b4\u30e0\u30bb\u30e1\u30f3\u30c8\u304b\u3089\u4f5c\u3089\u308c\u305f\u4f4e\u30d0\u30ea\u30a2\u3092\u5f62\u6210\u3057\u305f\u3002 \u6b21\u3044\u3067\u3001\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u6df7\u5408\u7269\u3092\u30a2\u30ec\u30a4\u306b\u9069\u7528\u3057\u3001\u30a2\u30ec\u30a4\u3092\u3001\u6d41\u4f53\u306e\u4e0a\u9762\u3092\u81ea\u7531\u306b\u3057\u305f\u307e\u307e\u306e\u30b7\u30fc\u30eb\u3055\u308c\u305f\u30c1\u30e3\u30f3\u30d0\u30fc\u5185\u306b\u7f6e\u3044\u305f\u3002 \u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u306f\u300137\u2103\u3067\u3086\u3063\u304f\u308a\u3068\u63fa\u52d5\u3059\u308b\u30c6\u30fc\u30d6\u30eb\u4e0a\u306716\uff5e48\u6642\u9593\u9032\u884c\u3057\u305f(Pinkel et al. 1998).<br>\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u5f8c\u3001\u30a2\u30ec\u30a4\u3092\u3001\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u6eb6\u6db2\u306e\u5927\u90e8\u5206\u3092\u9664\u53bb\u3059\u308b\u305f\u3081\u306b\u3001PN\u7de9\u885d\u6db2(0.1M\u30ea\u30f3\u9178\u30ca\u30c8\u30ea\u30a6\u30e0;0.1%\u30ce\u30cb\u30c7\u30c3\u30c8P40; pH 8)\u306e\u6d41\u308c\u3067\u8fc5\u901f\u306b\u6d17\u6d44\u3057\u3001\u6b21\u3044\u3067\u300150%\u30db\u30eb\u30e0\u30a2\u30df\u30c9\/2# SSC\u4e2d\u306b45\u2103\u306715\u5206\u9593\u6d78\u6f2c\u3057\u3001\u6b21\u3044\u3067\u3001\u5ba4\u6e29PN\u7de9\u885d\u6db2\u4e2d\u306715\u5206\u9593\u6700\u7d42\u6d17\u6d44\u3057\u305f\u3002 \u30a2\u30ec\u30a4\u3092\u6d17\u6d44\u3057\u305f\u5f8c\u30011\u03bcM\u306eDNA\u67d3\u8272DAPI(4&#8242;,6-\u30b8\u30a2\u30df\u30b8\u30ce-2-\u30d5\u30a7\u30cb\u30eb\u30a4\u30f3\u30c9\u30fc\u30eb)\u3092\u542b\u6709\u3059\u308b90%\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u304a\u3088\u307310%\u30ea\u30f3\u9178\u7de9\u885d\u6db2\u3001pH 9\u3092\u5404\u30a2\u30ec\u30a4\u306b\u9069\u7528\u3057\u3001\u30ab\u30d0\u30fc\u30b9\u30ea\u30c3\u30d7\u3092\u52a0\u3048\u305f\u3002 DAPI\u306f\u30a2\u30ec\u30a4\u30b9\u30dd\u30c3\u30c8\u3092\u67d3\u8272\u3057\u3001\u305d\u308c\u3089\u3092\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u30b7\u30b0\u30ca\u30eb\u3068\u306f\u7121\u95a2\u4fc2\u306b\u53ef\u8996\u5316\u3057\u305f\u3002<\/p>\n<p>\u30a2\u30ec\u30a4\u306f\u3001\u7279\u6ce8\u306e\u96fb\u8377\u7d50\u5408\u7d20\u5b50(CCD)\u30a4\u30e1\u30fc\u30b8\u30f3\u30b0\u30b7\u30b9\u30c6\u30e0(Pinkel et al. 1998;\u8457\u8005\u306e\u672a\u767a\u8868\u30c7\u30fc\u30bf)\u3067\u753b\u50cf\u5316\u3057\u305f\u3002\u30a2\u30ec\u30a4\u5168\u4f53\u306f1\u679a\u306eCCD\u753b\u50cf\u5185\u306b\u53ce\u307e\u3063\u3066\u3044\u305f\u3002\u307b\u3068\u3093\u3069\u306e\u89e3\u6790\u306b\u306f\u3001\u753b\u50cf\u89e3\u6790\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2 UCSF SPOT (Jain et al. 2002)\u3092\u4f7f\u7528\u3057\u305f\u3002\u3053\u306e\u30d7\u30ed\u30b0\u30e9\u30e0\u306f\u3001DAPI\u753b\u50cf\u3092\u4f7f\u7528\u3057\u3066\u30a2\u30ec\u30a4\u306e\u30b9\u30dd\u30c3\u30c8\u306e\u4f4d\u7f6e\u3092\u6c7a\u5b9a\u3057\u3001\u5c40\u6240\u7684\u306a\u30d0\u30c3\u30af\u30b0\u30e9\u30a6\u30f3\u30c9\u3092\u5dee\u3057\u5f15\u3044\u305f\u5f8c\u3001\u5404\u30b9\u30dd\u30c3\u30c8\u5185\u306e\u5404\u30d4\u30af\u30bb\u30eb\u306e\u30c6\u30b9\u30c8\u304a\u3088\u3073\u30ea\u30d5\u30a1\u30ec\u30f3\u30b9\u306e\u5f37\u5ea6\u3092\u8a08\u7b97\u3057\u305f\u3002\u5404\u30b9\u30dd\u30c3\u30c8\u306e\u76f8\u5bfe\u7684\u306a\u30b3\u30d4\u30fc\u6570\u306e\u6307\u6a19\u3068\u3057\u3066\u3001\uff08\u30d0\u30c3\u30af\u30b0\u30e9\u30a6\u30f3\u30c9\u3092\u5dee\u3057\u5f15\u3044\u305f\uff09\u7dcf\u30c6\u30b9\u30c8\u5f37\u5ea6\u3068\uff08\u30d0\u30c3\u30af\u30b0\u30e9\u30a6\u30f3\u30c9\u3092\u5dee\u3057\u5f15\u3044\u305f\uff09\u7dcf\u53c2\u7167\u5f37\u5ea6\u306e\u6bd4\u3092\u4f7f\u7528\u3057\u3001\u8907\u88fd\u306e\u6bd4\u3092\u5e73\u5747\u5316\u3057\u305f\u3002\u753b\u50cf\u307e\u305f\u306f\u6bd4\u7387\u30c7\u30fc\u30bf\u306b\u306f\u3001\u3044\u304b\u306a\u308b\u7a2e\u985e\u306e\u8a08\u7b97\u4e0a\u306e\u8abf\u6574(\u9670\u5f71\u88dc\u6b63\u3001\u4f4e\u3055\u6b63\u898f\u5316\u3001\u7a7a\u9593\u4f9d\u5b58\u7684\u6b63\u898f\u5316\u3001\u304a\u3088\u3073\u30af\u30ed\u30fc\u30f3\u7279\u7570\u7684\u6b63\u898f\u5316)\u3082\u884c\u3063\u3066\u3044\u306a\u3044\u3002 \u554f\u984c\u4fe1\u53f7\u3092\u8a8d\u8b58\u3059\u308b\u305f\u3081\u306b\u3001\u30b9\u30dd\u30c3\u30c8\u5185\u306e\u8a66\u9a13\u4fe1\u53f7\u3068\u57fa\u6e96\u4fe1\u53f7\u306e\u76f8\u95a2\u3092\u542b\u3080\u54c1\u8cea\u57fa\u6e96\u3092\u9069\u7528\u3057\u305f\u3002\u4e00\u822c\u7684\u306b\u3001\u76f8\u95a2 r &lt; 0.8 \u306e\u30b9\u30dd\u30c3\u30c8\u306f\u62d2\u7d76\u3055\u308c\u305f\u3002\u8907\u88fd\u7269\u306b\u3064\u3044\u3066\u306e SD &gt;0.2 \u3092\u6709\u3059\u308b\u30af\u30ed\u30fc\u30f3\u3092\u5206\u6790\u304b\u3089\u9664\u53bb\u3057\u305f\u3002 \u307b\u3068\u3093\u3069\u306e\u5834\u5408\u3001\u8907\u88fd\u30b9\u30dd\u30c3\u30c8\u306eSD\u306f&lt;0.02\u3067\u3042\u3063\u305f\u3002 \u307e\u305f\u3001\u54c1\u8cea\u691c\u67fb\u306b\u8010\u3048\u305f\u8907\u88fd\u306e\u3046\u30611\u3064\u306e\u307f\u3092\u7528\u3044\u305f\u30af\u30ed\u30fc\u30f3\u306e\u6e2c\u5b9a\u3082\u68c4\u5374\u3057\u305f\u3002 \u5168\u4f53\u7684\u306a\u6b63\u898f\u5316\u4fc2\u6570\u3092\u9069\u7528\u3057\u30011\u30bb\u30eb\u3042\u305f\u308a2\u30b3\u30d4\u30fc\u306e\u30a2\u30ec\u30a4\u8981\u7d20\u306elog2\u6bd4\u306e\u4e2d\u592e\u5024\u3001\u3059\u306a\u308f\u3061\u4e2d\u592e\u5024\u7dda\u5f62\u6bd4\u3092\u3001\u305d\u308c\u305e\u308c0\u307e\u305f\u306f1\u306b\u8a2d\u5b9a\u3057\u305f\u3002<\/p>\n<\/section>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<section id=\"figure_1\" class=\"note_figure\">\n<h3><span class=\"ez-toc-section\" id=\"%E5%9B%B31\"><\/span>\u56f31<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<picture><source srcset=\"\/nipt\/wp-content\/uploads\/2020\/08\/neko_pict_f1.png.webp\" type=\"image\/webp\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2020\/08\/neko_pict_f1.png\" alt=\"\"> <\/picture>\u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u60a3\u8005\u306eCGH\u89e3\u6790\u3092\u30a2\u30ec\u30a4\u5316\u3059\u308b\u3002 A\u3001\u672b\u7aef\u6b20\u5931\u3001\u60a3\u800527\u3002 \u6e2c\u5b9a\u3055\u308c\u305f\u6bd4\u7387\u306elog2\u3092\u3001\u5de6\u5074\u306e\u30c6\u30ed\u30e1\u30a2\u304b\u3089\u59cb\u307e\u308b\u67d3\u8272\u4f535p\u4e0a\u306e\u30af\u30ed\u30fc\u30f3\u306e\u9806\u5e8f\u306b\u5bfe\u3057\u3066\u30d7\u30ed\u30c3\u30c8\u3059\u308b\u3002 \u30af\u30ed\u30fc\u30f3\u306e\u30de\u30c3\u30d7\u4f4d\u7f6e\u3092<a href=\"#table_3\">\u88683<\/a>\u306b\u793a\u3059\u3002 \u30c7\u30fc\u30bf\u306f\u3001\u5404\u914d\u5217\u306e2\u30b3\u30d4\u30fc\u3092\u542b\u3080\u30b2\u30ce\u30e0\u306e\u90e8\u5206\u306b\u3064\u3044\u3066log2p\u6bd40\u306b\u306a\u308b\u3088\u3046\u306b\u6b63\u898f\u5316\u3055\u308c\u308b\u3002 \u30a8\u30e9\u30fc\u30d0\u30fc\u306f\u3001\u307b\u3068\u3093\u3069\u306e\u5834\u5408\u3001\u56f3\u4e2d\u306e\u70b9\u3068\u540c\u3058\u30b5\u30a4\u30ba\u3067\u3042\u308a\u3001\u5404\u30af\u30ed\u30fc\u30f3\u306e\u8907\u88fd\u30b9\u30dd\u30c3\u30c8\u4e0a\u306e\u6e2c\u5b9a\u306eSD\u3092\u793a\u3057\u307e\u3059\u3002 \u6b20\u5931\u5883\u754c\u306f\u30af\u30ed\u30fc\u30f348\u306849\u306e\u9593\u3067\u751f\u3058\u308b\u3002 \u77e2\u5370\u306f\u3001\u30af\u30ed\u30fc\u30f339\u304c\u3001\u88ab\u9a13\u8005\u306b\u304a\u3044\u3066\u6b63\u5e38\u3068\u6b20\u5931\u306e\u4e2d\u9593\u306e\u6bd4\u7387\u3092\u793a\u3057(\u30d1\u30cd\u30ebB)\u3001\u6b20\u5931\u306f\u30af\u30ed\u30fc\u30f339\u3092\u542b\u3093\u3060\u304c\u3001\u30af\u30ed\u30fc\u30f351\u304a\u3088\u307352\u306e\u5468\u56f2\u306e\u9818\u57df\u3092\u542b\u307e\u306a\u304b\u3063\u305f\u3053\u3068\u3092\u793a\u3059\u3002 log2\u306e\u30af\u30ed\u30fc\u30f339\u30010.4\u306f\u3001\u305d\u306e\u30af\u30ed\u30fc\u30f3\u4e2d\u306e\u914d\u5217\u306e4\uff5e3\u30b3\u30d4\u30fc\u306e\u6b20\u5931\u3068\u4e00\u81f4\u3057\u3066\u304a\u308a\u3001\u30d2\u30c8\u30b2\u30ce\u30e0\u4e2d\u3067\u8907\u88fd\u3055\u308c\u3066\u3044\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u308b\u3002 FISH\u89e3\u6790\u306b\u3088\u3063\u3066\u3001\u30d2\u30c8\u30b2\u30ce\u30e0\u914d\u5217\u306e\u4e00\u90e8\u306e\u51cd\u7d50\u3068\u540c\u69d8\u306b\u3001\u3053\u306e\u91cd\u8907\u304c\u78ba\u8a8d\u3055\u308c\u305f\u3002 B\u3001\u9593\u8cea\u6027\u6b20\u5931\u3001\u60a3\u8005114\u3002 \u30af\u30ed\u30fc\u30f339(\u77e2\u5370)\u306f\u3001\u3053\u306e\u5834\u5408\u3082\u4e2d\u9593\u306e\u6bd4\u7387\u3092\u793a\u3057\u3066\u3044\u308b\u3002 C\u3001\u60a3\u800545\u306e\u5168\u30b2\u30ce\u30e0\u89e3\u6790\u3002 \u4e0a\u306e\u56f3\u306f\u5168\u30b2\u30ce\u30e0\u306e\u30c7\u30fc\u30bf\u3092\u793a\u3057\u3066\u304a\u308a\u3001\u30af\u30ed\u30fc\u30f3\u306f\u30b2\u30ce\u30e0\u306e\u9806\u5e8f\u3067\u30d7\u30ed\u30c3\u30c8\u3055\u308c\u3066\u3044\u308b\u3002 2\u3064\u306e\u5c0f\u3055\u306a\u6b20\u5931\u9818\u57df(\u305d\u308c\u305e\u308c\u304c\u3044\u304f\u3064\u304b\u306e\u9023\u7d9a\u3057\u305f\u30af\u30ed\u30fc\u30f3\u3092\u542b\u3080)\u304c\u691c\u51fa\u3055\u308c\u308b\u3002 \u4e0b\u306e\u30d1\u30cd\u30eb\u306f\u3001\u6b20\u5931\u3092\u542b\u3080\u7b2c5\u67d3\u8272\u4f53\u304a\u3088\u3073\u7b2c6\u67d3\u8272\u4f53\u306b\u3064\u3044\u3066\u3001\u914d\u5217\u4f4d\u7f6e\u306b\u5f93\u3063\u3066\u30d7\u30ed\u30c3\u30c8\u3057\u305f\u8a73\u7d30\u306a\u30c7\u30fc\u30bf\u3092\u793a\u3059\u3002 \u3053\u306e\u30a2\u30ec\u30a4\u306f\u3001<a href=\"#table_3\">\u88683<\/a>\u306b\u5217\u6319\u3055\u308c\u305f\u5b8c\u5168\u306a5p\u30af\u30ed\u30fc\u30f3\u30bb\u30c3\u30c8\u3092\u542b\u307e\u305a\u3001\u3057\u305f\u304c\u3063\u3066\u30015p\u6b20\u5931\u306f\u3001\u9ad8\u89e3\u50cf\u5ea6\u5206\u6790\u306b\u304a\u3051\u308b\u3088\u308a\u3082\u5c11\u306a\u3044\u30af\u30ed\u30fc\u30f3\u3092\u542b\u3080\u3002 \u6bd4\u304c0\u3068\u7570\u306a\u308b\u5358\u4e00\u30af\u30ed\u30fc\u30f3\u306f\u3001\u691c\u67fb\u30b2\u30ce\u30e0\u3068\u53c2\u7167\u30b2\u30ce\u30e0\u3068\u306e\u9593\u306e\u30b3\u30d4\u30fc\u6570\u591a\u578b\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308b(Albertson and Pinkel 2003; Iafrate et al. 2004; Sebat et al. 2004)\u307e\u305f\u306f\u5c0f\u3055\u306a\u8ffd\u52a0\u53ce\u5dee\u3001\u30ce\u30a4\u30ba\u3002\n<p>&nbsp;<\/p>\n<\/section>\n\n\n\n<section id=\"table_1\" class=\"note_table\">\n<h3><span class=\"ez-toc-section\" id=\"%E8%A1%A81_%E3%81%AD%E3%81%93%E3%81%AA%E3%81%8D%E7%97%87%E5%80%99%E7%BE%A4%E6%82%A3%E8%80%8594%E4%BE%8B%E3%81%AE%E4%B8%BB%E8%A6%81%E3%83%87%E3%83%BC%E3%82%BF%E3%81%AE%E8%A6%81%E7%B4%84\"><\/span>\u88681 \u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u60a3\u800594\u4f8b\u306e\u4e3b\u8981\u30c7\u30fc\u30bf\u306e\u8981\u7d04<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<div class=\"table-sp-scroll\">\n<table>\n<thead>\n<tr>\n<th rowspan=\"2\">\u60a3\u8005<\/th>\n<th colspan=\"3\">\u8868\u73fe\u578b<\/th>\n<th rowspan=\"2\">\u30ec\u30d9\u30eb<\/th>\n<th rowspan=\"2\">\u5f93\u6765\u306e\u7d30\u80de\u907a\u4f1d\u5b66<sup>a<\/sup><\/th>\n<th colspan=\"2\">\u5883\u754c<br>(Mb\/clone no.<sup>b<\/sup>)<\/th>\n<\/tr>\n<tr>\n<th>\u7279\u5fb4\u7684\u306a\u6ce3\u304d\u58f0<sup>c<\/sup><\/th>\n<th>\u9854\u9762\u7570\u5f62<sup>c<\/sup><\/th>\n<th>\u97f3\u58f0\u9045\u5ef6<\/th>\n<th>\u8fd1\u4f4d<sup>d<\/sup><\/th>\n<th>\u9060\u4f4d<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>1<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XY,del(5)(p14.3)*<\/td>\n<td>20.837\/39<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>3<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6.5<\/td>\n<td>46,XY,del(5)(p13.3)*<\/td>\n<td>30.726\/51<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>4<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XY,der(5)t(5;22)(p14.2;p13)pat<\/td>\n<td>30.022\/44<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>5<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5.5<\/td>\n<td>46,XY,del(5)(p14.3)*<\/td>\n<td>17.500\/37<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>6<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XX,del(5)(p14.1)*<\/td>\n<td>23.276\/41<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>8<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XY,del(5)(p14.1)*<\/td>\n<td>25.841\/42<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>9<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>7<\/td>\n<td>45,XX,dic(5;13)(p13.3;p12)*<\/td>\n<td>31.942\/45<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>10<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5.5<\/td>\n<td>46,XX,del(5)(p14.2)*<\/td>\n<td>21.797\/40<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>11<\/td>\n<td>ND\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5.5<\/td>\n<td>46,XX,del(5)(p14.1)*<\/td>\n<td>30.022\/44<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>12<\/td>\n<td>ND\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5.5<\/td>\n<td>46,XX,del(5)(p14.3)*<\/td>\n<td>18.336\/38<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>13<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XX,del(5)(p13.3)*<\/td>\n<td>33.428\/49<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>14<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XY,del(5)(p13.3)*<\/td>\n<td>30.022\/44<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>15<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,del(5)(p14.3)*<\/td>\n<td>20.837\/39<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>16<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/N<\/td>\n<td>Y<\/td>\n<td>6.5<\/td>\n<td>46,XX,der(5)t(5;8)(p14.1;p22)*<\/td>\n<td>31.751\/46<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>17<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XX,del(5)(p14.1)*<\/td>\n<td>25.841\/42<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>18<\/td>\n<td>ND\/N<\/td>\n<td>Y\/N<\/td>\n<td>N<\/td>\n<td>6<\/td>\n<td>46,XY,del(5)(p14.1p15.31)*IN<\/td>\n<td>30.022\/44<\/td>\n<td>8.021\/15<\/td>\n<\/tr>\n<tr>\n<td>20<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XX,del(5)(p14.1)*<\/td>\n<td>31.751\/46<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>21<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5.5<\/td>\n<td>46,XX,del(5)(p14.3)*<\/td>\n<td>18.336\/38<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>22<\/td>\n<td>Y\/ND<\/td>\n<td>Y\/ND<\/td>\n<td>Y<\/td>\n<td>NA<sup>e<\/sup><\/td>\n<td>46,XX,add(5)(p14.3)*<\/td>\n<td>21.797\/40<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>23<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XY,del(5)(p14.1)*<\/td>\n<td>30.022\/44<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>24<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/N<\/td>\n<td>Y<\/td>\n<td>7<\/td>\n<td>46,XX,add(5)(p14.1)mat<\/td>\n<td>21.797\/40<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>25<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/N<\/td>\n<td>Y<\/td>\n<td>7<\/td>\n<td>46,XX,add(5)(p14.2)*<\/td>\n<td>18.336\/38<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>26<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XY,del(5)(p14.1)*<\/td>\n<td>31.751\/46<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>27<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XY,del(5)(p13.3)*<\/td>\n<td>33.428\/49<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>28<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,del(5)(p14.3)*<\/td>\n<td>20.837\/39<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>30<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5.5<\/td>\n<td>46,XX,del(5)(p14.3)*<\/td>\n<td>20.837\/39<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>31<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XX,del(5)(p13.3)*<\/td>\n<td>31.942\/45<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>35<\/td>\n<td>Y\/ND<\/td>\n<td>Y\/ND<\/td>\n<td>Y<\/td>\n<td>6.5<\/td>\n<td>45,XY,der(5)t(5;14)(p14.2;q12),-14,mat<\/td>\n<td>23.276\/41<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>36<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XX,del(5)(p14.1)*<\/td>\n<td>30.022\/44<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>37<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XX,del(5)(p14.1)*<\/td>\n<td>30.022\/44<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>38<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,del(5)(p15.1)*<\/td>\n<td>18.336\/38<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>39<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XX,del(5)(p14.1)*<\/td>\n<td>30.022\/44<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>40<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XY,del(5)(p15.1)*<\/td>\n<td>16.684\/33<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>42<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/ND<\/td>\n<td>Y<\/td>\n<td>3<\/td>\n<td>46,XX,del(5)(p15.2)*<\/td>\n<td>11.035\/28<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>44<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/ND<\/td>\n<td>Y<\/td>\n<td>3<\/td>\n<td>46,XX,del(5)(p15.2)*<\/td>\n<td>11.035\/28<\/td>\n<td>1.207\/1<\/td>\n<\/tr>\n<tr>\n<td>45<\/td>\n<td>ND\/N<\/td>\n<td>N\/N<\/td>\n<td>Y<\/td>\n<td>7<\/td>\n<td>46,XY,der(14)t(5;14)(q11;p13) del(5)(p14.3p15.31)*<\/td>\n<td>17.500\/37<\/td>\n<td>14.929\/30<\/td>\n<\/tr>\n<tr>\n<td>48<\/td>\n<td>Y\/N<\/td>\n<td>Y\/N<\/td>\n<td>Y<\/td>\n<td>6.5<\/td>\n<td>46,XY,add(5)(p14.2)*<\/td>\n<td>16.684\/33<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>49<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>N<\/td>\n<td>5<\/td>\n<td>46,XX,der(5) ins(15;5)(q22;p14.3p15.31)mat<\/td>\n<td>26.794\/43<\/td>\n<td>5.945\/12<\/td>\n<\/tr>\n<tr>\n<td>50<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XX,del(5)(p14.1)*<\/td>\n<td>31.942\/45<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>51<\/td>\n<td>N\/N<\/td>\n<td>N\/N<\/td>\n<td>N<\/td>\n<td>0<\/td>\n<td>46,XX,del(5)(p13.3p14.1)mat<\/td>\n<td>31.942\/45<\/td>\n<td>18.336\/38<\/td>\n<\/tr>\n<tr>\n<td>52<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6.5<\/td>\n<td>46,XY,del(5)(p13.3)*<\/td>\n<td>31.751\/46<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>54<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,del(5)(p15.1)*<\/td>\n<td>16.684\/33<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>55<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5.5<\/td>\n<td>46,XX,der(5)t(5;13)(p14.3;p12)mat<\/td>\n<td>20.837\/39<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>56<\/td>\n<td>ND\/N<\/td>\n<td>ND\/N<\/td>\n<td>ND<\/td>\n<td>6<\/td>\n<td>46,XY,der(5)t(5;7)(p14.1p21)? del(5)(p14.1p15.1)?del(7)*<\/td>\n<td>26.794\/43<\/td>\n<td>8.021\/15<\/td>\n<\/tr>\n<tr>\n<td>58<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XX,del(5)(p14.1)*<\/td>\n<td>30.022\/44<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>59<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,del(5)(p14.3)*<\/td>\n<td>23.276\/41<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>60<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XY,del(5)(p14.2)*<\/td>\n<td>20.837\/39<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>63<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,rec(5)del(5)(p14.2) inv(5)(p14.1p15.1)mat<\/td>\n<td>21.797\/40<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>66<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XX,del(5)(p14.2)*<\/td>\n<td>23.276\/41<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>68<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XY,del(5)(p14.1)*<\/td>\n<td>25.841\/42<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>101<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/ND<\/td>\n<td>Y<\/td>\n<td>2.5<\/td>\n<td>46,XX,del(5)(p15.2)*<\/td>\n<td>11.035\/28<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>102<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,del(5)(p14.2p15.33)*<\/td>\n<td>23.276\/41<\/td>\n<td>3.174\/4<\/td>\n<\/tr>\n<tr>\n<td>104<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6.5<\/td>\n<td>46,XY,del(5)(p13.3)*<\/td>\n<td>32.162\/48<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>105<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,del(5)(p14.3)*<\/td>\n<td>17.224\/36<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>107<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XY,del(5)(p13.3)*<\/td>\n<td>33.428\/49<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>109<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5.5<\/td>\n<td>mos 46,XX,del(5)(p14.1)\/del(5)(p15.2)*<\/td>\n<td>25.841\/42<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>110<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6.5<\/td>\n<td>46,XX,del(5)(p13.3)*<\/td>\n<td>30.726\/51<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>111<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XY,del(5)(p14.1)*<\/td>\n<td>25.841\/42<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>112<\/td>\n<td>ND\/N<\/td>\n<td>ND\/N<\/td>\n<td>N<\/td>\n<td>1<\/td>\n<td>46,XX,del(5)(p14.2p15.2)*<\/td>\n<td>23.276\/41<\/td>\n<td>11.435\/27<\/td>\n<\/tr>\n<tr>\n<td>113<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,del(5)(p14.1)*<\/td>\n<td>23.276\/41<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>114<\/td>\n<td>N\/N<\/td>\n<td>N\/N<\/td>\n<td>N<\/td>\n<td>2<\/td>\n<td>46,XY,del(5)(p14.2p15.2)*<\/td>\n<td>23.276\/41<\/td>\n<td>11.360\/26<\/td>\n<\/tr>\n<tr>\n<td>115<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,del(5)(p15.2)*<\/td>\n<td>11.035\/28<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>117<\/td>\n<td>ND\/N<\/td>\n<td>N\/N<\/td>\n<td>Y<\/td>\n<td>3.5<\/td>\n<td>46,XY,del(5)(p15.31)*<\/td>\n<td>9.288\/18<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>201<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/N<\/td>\n<td>Y<\/td>\n<td>7<\/td>\n<td>46,XY,add(5)(p14.3)*<\/td>\n<td>17.224\/36<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>202<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/ND<\/td>\n<td>Y<\/td>\n<td>2.5<\/td>\n<td>46,XY,del(5)(p15.2)*<\/td>\n<td>11.435\/27<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>203<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XY,del(5)(p13.3)*<\/td>\n<td>30.022\/44<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>205<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XY,del(5)(p14.2)*<\/td>\n<td>21.797\/40<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>206<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/ND<\/td>\n<td>Y<\/td>\n<td>7<\/td>\n<td>46,XX,add(5)(p14.3)pat<\/td>\n<td>18.336\/38<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>209<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XX,del(5)(p13.3)*<\/td>\n<td>31.751\/46<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>210<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>7<\/td>\n<td>46,XX,del(5)(p14.1)pat<\/td>\n<td>25.841\/42<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>212<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6.5<\/td>\n<td>46,XY,del(5)(p14.1)*<\/td>\n<td>30.022\/44<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>213<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,del(5)(p14.2)*<\/td>\n<td>20.837\/39<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>214<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,del(5)(p14.2)*<\/td>\n<td>17.224\/36<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>215<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/N<\/td>\n<td>Y<\/td>\n<td>7<\/td>\n<td>46,XX,der(5)t(4;5)(q32;p14.3)*<\/td>\n<td>14.929\/30<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>216<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,del(5)(p14.2)*<\/td>\n<td>20.837\/39<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>218<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6.5<\/td>\n<td>46,XX,add(5)(p14.3)pat<\/td>\n<td>17.500\/37<sup>f<\/sup><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>219<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6.5<\/td>\n<td>46,XY,del(5)(p14.1)*<\/td>\n<td>25.841\/42<\/td>\n<td>1.207\/1<\/td>\n<\/tr>\n<tr>\n<td>221<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,del(5)(p14.2)*<\/td>\n<td>18.336\/38<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>222<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XY,del(5)(p14.1)*<\/td>\n<td>26.794\/43<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>223<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XX,del(5)(p13.3)*<\/td>\n<td>33.428\/49<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>225<\/td>\n<td>Y\/ND<\/td>\n<td>Y\/ND<\/td>\n<td>Y<\/td>\n<td>4<sup>g <\/sup><\/td>\n<td>46,XY,del(5)(p14.3p15.31)*<\/td>\n<td>21.797\/40 3.174\/4<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>228<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6<\/td>\n<td>46,XY,add(5)(p15.2)pat<\/td>\n<td>11.035\/28<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>229<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>7<\/td>\n<td>45,XX,dic(5;22)(p13.2 p12)*<\/td>\n<td>33.428\/49<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>231<\/td>\n<td>Y\/ND<\/td>\n<td>Y\/ND<\/td>\n<td>Y<\/td>\n<td>3.5<sup>g<\/sup><\/td>\n<td>46,XX,del(5)(p15.1)*<\/td>\n<td>15.679\/31<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>232<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6.5<\/td>\n<td>46,XX,del(5)(p13.3)*<\/td>\n<td>31.942\/45<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>250<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XX,del(5)(p14.1)*<\/td>\n<td>26.794\/43<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>251<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6.5<\/td>\n<td>46,XX,del(5)(p13.3)*<\/td>\n<td>30.022\/44<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>252<\/td>\n<td>N\/N<\/td>\n<td>N\/N<\/td>\n<td>N<\/td>\n<td>5<\/td>\n<td>46,XY,del(5)(p15.1p15.31)*<\/td>\n<td>15.872\/32<\/td>\n<td>6.365\/13<\/td>\n<\/tr>\n<tr>\n<td>253<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XY,r(5)(14.3q35.3)*<\/td>\n<td>20.837\/39<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>254<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XY,del(5)(p14.3)*<\/td>\n<td>20.837\/39<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>255<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>6.5<\/td>\n<td>46,XY,add(5)(p14.2)*<\/td>\n<td>20.837\/39<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>256<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5.5<\/td>\n<td>46,XX,del(5)(p13.3)*<\/td>\n<td>30.022\/44<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>300<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/Y<\/td>\n<td>Y<\/td>\n<td>5<\/td>\n<td>46,XY,del(5)(p14.1)*<\/td>\n<td>25.841\/42<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>402<\/td>\n<td>Y\/Y<\/td>\n<td>Y\/ND<\/td>\n<td>Y<\/td>\n<td>3<\/td>\n<td>46,XY,del(5)(p15.2)*<\/td>\n<td>11.035\/28<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p class=\"can_slide\">\u6a2a\u306b\u30b9\u30e9\u30a4\u30c9\u3067\u304d\u307e\u3059<\/p>\n<\/div>\n<aside>\n<ul>\n<li>\u6ce8. -Y p\u8868\u73fe\u578b\u304c\u5b58\u5728\u3059\u308b\u3002 N p\u8868\u73fe\u578b\u306a\u3057\u3002 ND p\u306f\u6c7a\u5b9a\u3055\u308c\u3066\u3044\u306a\u3044\u3002<\/li>\n<li>a \u30a2\u30b9\u30bf\u30ea\u30b9\u30af(*)\u306f\u65b0\u898f\u75c7\u4f8b(\u8a0883\u4f8b\u3001\u7236\u89aa78%\u3001\u6bcd\u89aa22%)\u3092\u793a\u3059\u3002 \u6b8b\u308a\u306e11\u4f8b\u306f\u5bb6\u65cf\u6027\u3067\u3042\u308b\u3002<\/li>\n<li>b \u30af\u30ed\u30fc\u30f3\u756a\u53f7\u306f<a href=\"#table_3\">\u88683<\/a>\u306e\u3082\u306e\u3002<\/li>\n<li>c \u60a3\u8005\u306e\u5e74\u9f62\u304c5\u6b73\u672a\u6e80\u306e\u5834\u5408\u306e\u6709\u7121\/5\u6b73\u4ee5\u4e0a\u306e\u5834\u5408\u306e\u6709\u7121\u3002<\/li>\n<li>d 5p\u6b20\u5931\u5883\u754c\u306b\u3042\u308b\u672a\u524a\u9664\u30af\u30ed\u30fc\u30f3\u3002\u9593\u8cea\u6b20\u5931\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u8fd1\u4f4d\u304a\u3088\u3073\u9060\u4f4d\u6b20\u5931\u5883\u754c\u3092\u793a\u3059\u3002\u5883\u754c\u30af\u30ed\u30fc\u30f3\u306f\u6b20\u5931\u5883\u754c\u306b\u91cd\u8907\u304c\u3042\u308b\u305f\u3081\u3001\u30b3\u30d4\u30fc\u6570\u304c\u4e0a\u6607\u3057\u3066\u3044\u308b\uff08<a href=\"#table_4\">\u88684<\/a>\uff09\u3002<\/li>\n<li>e \u60a3\u8005\u304c\u6b7b\u4ea1\u3057\u3001MR\u5024\u304c\u5f97\u3089\u308c\u306a\u3044(NA)\u3002<\/li>\n<li>f \u30ce\u30a4\u30ba\u306e\u591a\u3044\u30b5\u30f3\u30d7\u30eb\u3002 \u8907\u6570\u306e\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u306f\u3001\u5883\u754c\u304c\u30af\u30ed\u30fc\u30f336\u307e\u305f\u306f37\u3067\u3042\u308a\u5f97\u308b\u3053\u3068\u3092\u793a\u3059\u3002<\/li>\n<li>g \u60a3\u8005225\u3068231\u306e\u8a55\u4fa1\u306f\u3001\u305d\u308c\u305e\u308c3.5\u6b73\u30683\u6b73\u3067\u3042\u3063\u305f\u3002<\/li>\n<\/ul>\n<\/aside>\n<\/section>\n\n\n\n<section id=\"result\">\n<h2><span class=\"ez-toc-section\" id=\"%E7%B5%90%E6%9E%9C\"><\/span>\u7d50\u679c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<h3><span class=\"ez-toc-section\" id=\"%E3%82%A2%E3%83%AC%E3%82%A4CGH%E6%B8%AC%E5%AE%9A\"><\/span>\u30a2\u30ec\u30a4CGH\u6e2c\u5b9a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>5\u756a\u67d3\u8272\u4f53\u304a\u3088\u3073\u5168\u30b2\u30ce\u30e0\u30b9\u30ad\u30e3\u30f3\u306e\u4ee3\u8868\u7684\u306a\u30b3\u30d4\u30fc\u6570\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u3092<a href=\"#figure_1\">\u56f31<\/a>\u306b\u793a\u3059\u3002 \u5358\u4e00\u30b3\u30d4\u30fc\u306e\u6b20\u5931\u304a\u3088\u3073\u5747\u4e00\u30b5\u30f3\u30d7\u30eb\u306b\u304a\u3051\u308b\u30b2\u30a4\u30f3\u306f\u3001\u7406\u60f3\u7684\u306b\u306f\u3001\u305d\u308c\u305e\u308c-1.0\u304a\u3088\u3073+0.58\u306elog2\u6bd4\u3092\u6709\u3059\u308b\u3067\u3042\u308d\u3046\u3002<br>\u5b9f\u969b\u306b\u306f\u3001\u6b20\u5931\u306e\u6bd4\u7387\u306f-1\uff5e-0.7\u306e\u7bc4\u56f2\u3067\u3042\u308a\u3001\u304a\u305d\u3089\u304f\u9ad8\u5ea6\u306b\u53cd\u5fa9\u3055\u308c\u305f\u914d\u5217\u304b\u3089\u306e\u30b7\u30b0\u30ca\u30eb\u306e\u4e0d\u5b8c\u5168\u306a\u6291\u5236\u3001\u4ea4\u5dee\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u3001\u30d0\u30c3\u30af\u30b0\u30e9\u30a6\u30f3\u30c9\u30ec\u30d9\u30eb\u306e\u4e0d\u5b8c\u5168\u306a\u5b9a\u7fa9\u306a\u3069\u306b\u3088\u308a\u3001\u7406\u60f3\u304b\u3089\u306e\u9038\u8131\u304c\u3042\u3063\u305f\u3002 \u30b3\u30d4\u30fc\u6570\u306b\u5bfe\u3059\u308b\u6bd4\u7387\u3068\u30ce\u30a4\u30ba\u30ec\u30d9\u30eb(<a href=\"#figure_1\">\u56f31<\/a>\u306b\u793a\u3055\u308c\u3066\u3044\u308b)\u3068\u306e\u3053\u306e\u307b\u307c\u5b9a\u91cf\u7684\u306a\u95a2\u4fc2\u306b\u3088\u308a\u3001-0.4\u306b\u7b49\u3057\u3044log2\u6bd4\u306b\u8a2d\u5b9a\u3055\u308c\u305f\u5358\u7d14\u306a\u95be\u5024\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u306b\u3088\u308a\u3001\u975e\u5e38\u306b\u9ad8\u3044\u4fe1\u983c\u6027\u3067\u6b20\u5931\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u305f\u3002 \u307b\u3068\u3093\u3069\u306e\u5834\u5408\u30012\u3064\u306e\u30a2\u30ec\u30a4\u30af\u30ed\u30fc\u30f3\u9593\u306e\u30a4\u30f3\u30bf\u30fc\u30d0\u30eb\u306e\u4e00\u65b9\u307e\u305f\u306f\u4e21\u65b9\u306e\u6b20\u5931\u5883\u754c\u3092\u78ba\u7acb\u3059\u308b\u306e\u306b\u5341\u5206\u306a\u7cbe\u5ea6\u304c\u3001\u5358\u4e00\u306e\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u306b\u304a\u3044\u3066\u9054\u6210\u3055\u308c\u305f\u3002 \u6700\u521d\u306e\u6e2c\u5b9a\u306b\u30ce\u30a4\u30ba\u304c\u591a\u3059\u304e\u3066\u6b20\u5931\u5883\u754c\u306b\u96a3\u63a5\u3059\u308b\u30af\u30ed\u30fc\u30f3\u3092\u540c\u5b9a\u3067\u304d\u306a\u304b\u3063\u305f\u5834\u5408\u3001\u6e2c\u5b9a\u3092\u7e70\u308a\u8fd4\u3057\u305f\u3002<br>\u8272\u7d20\u30ea\u30d0\u30fc\u30b5\u30eb\u306b\u3088\u308b\u6e2c\u5b9a\u306f\u3001\u518d\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u4ee5\u4e0a\u306e\u60c5\u5831\u3092\u63d0\u4f9b\u3057\u306a\u304b\u3063\u305f\u305f\u3081\u3001\u5b9f\u65bd\u3057\u306a\u304b\u3063\u305f\u3002 \u3068\u304d\u306b\u3001\u6a19\u672cDNA\u306e\u518d\u7cbe\u88fd\u304c\u30c7\u30fc\u30bf\u306e\u8cea\u3092\u6539\u5584\u3057\u3001\u3044\u304f\u3064\u304b\u306e\u6a19\u672c\u4e2d\u306e\u672a\u77e5\u306e\u6c5a\u67d3\u7269\u8cea\u304c\u30b2\u30ce\u30e0DNA\u3092\u4e00\u8cab\u3057\u3066\u6a19\u8b58\u307e\u305f\u306f\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30ba\u3059\u308b\u80fd\u529b\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u3092\u793a\u3059\u3053\u3068\u304c\u898b\u51fa\u3055\u308c\u305f\u3002<\/p>\n<p><a href=\"#table_1\">\u88681<\/a>\u306b\u3001\u60a3\u800594\u4f8b\u306e\u6b20\u5931\u30c7\u30fc\u30bf\u3001\u5f93\u6765\u306e\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u5206\u6790\u3001\u304a\u3088\u3073\u8868\u73fe\u578b\u7279\u6027\u3092\u8981\u7d04\u3059\u308b\u3002 \u60a3\u8005\u306f\u3001\u4ee5\u524d\u306e\u756a\u53f7\u4ed8\u3051(Niebuhr 1978a; \u8457\u8005\u306e\u672a\u767a\u8868\u8cc7\u6599)\u306b\u5bfe\u5fdc\u3057\u3066\u3001\u756a\u53f7\u9806\u306b\u30ea\u30b9\u30c8\u30a2\u30c3\u30d7\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n<p>82\u4eba\u306e\u88ab\u9a13\u8005\u306b\u304a\u3051\u308b\u6b20\u5931\u306f\u672b\u7aef\u3067\u3042\u3063\u305f\u304c\u300112\u4eba\u3067\u306f\u6b20\u5931\u306f\u9593\u8cea\u6027\u3067\u3042\u308a\u30015p\u3067\u5408\u8a08106\u500b\u306e\u6b20\u5931\u5883\u754c\u3067\u3042\u3063\u305f\u3002 \u4ee5\u4e0b\u306b\u8a73\u3057\u304f\u8ff0\u3079\u308b\u3088\u3046\u306b\u3001\u88ab\u9a13\u8005\u306e\u3046\u306115\u4f8b\u3067\u306f5p\u6b20\u5931\u306b\u52a0\u3048\u3066\u30b3\u30d4\u30fc\u6570\u7570\u5e38\u304c\u8a8d\u3081\u3089\u308c\u305f\u3002 \u3053\u308c\u3089\u306e\u7570\u5e38\u306e\u3046\u30613\u3064\u306f\u6b20\u5931\u5883\u754c\u306b\u96a3\u63a5\u3059\u308b5p\u914d\u5217\u306e\u91cd\u8907\u3067\u3042\u3063\u305f\u304c\u3001\u4ed6\u306e\u7570\u5e38\u306f<a href=\"#table_4\">\u88684<\/a>\u306b\u793a\u3059\u3088\u3046\u306b5p\u4ee5\u5916\u306e\u30b2\u30ce\u30e0\u9818\u57df\u3092\u542b\u3093\u3067\u3044\u305f\u3002<\/p>\n<p>\u8457\u8005\u3089\u306e\u6e2c\u5b9a\u306b\u57fa\u3065\u3044\u3066\u3001\u8208\u5473\u6df1\u3044DNA\u914d\u5217\u7279\u5fb4\u306e2\u3064\u306e\u5fb4\u5019\u304c\u898b\u51fa\u3055\u308c\u305f\u3002 \u6700\u521d\u306b\u3001\u6709\u610f\u306a\u30d6\u30ec\u30fc\u30af\u30dd\u30a4\u30f3\u30c8\u30af\u30e9\u30b9\u30bf\u30fc\u304c\u691c\u51fa\u3055\u308c\u305f\u3002 \u3053\u308c\u3089\u306e\u60a3\u8005\u3067\u8a8d\u3081\u3089\u308c\u305f106\u500b\u306e\u6b20\u5931\u5883\u754c\u306e\u3059\u3079\u3066\u306f\u67d3\u8272\u4f53\u306e\u9060\u4f4d\u7d0433 Mb\u5185\u306b\u751f\u3058\u3001\u305d\u306e\u7d50\u679c\u3001\u30e1\u30ac\u5869\u57fa\u5f53\u305f\u308a\u7d043\u500b\u306e\u5883\u754c\u306e\u5e73\u5747\u5bc6\u5ea6\u304c\u3082\u305f\u3089\u3055\u308c\u305f\u3002<br>94\u4f8b\u306e\u3046\u3061\u30019\u4f8b\u306f5p15.2\u306e\u30af\u30ed\u30fc\u30f326\u300127\u3001\u304a\u3088\u307328\u306e\u7d040.5 Mb\u9818\u57df\u306b\u9060\u4f4d\u307e\u305f\u306f\u8fd1\u4f4d\u306e\u5883\u754c\u3092\u6709\u3057\u3001\u30e1\u30ac\u5869\u57fa\u5f53\u305f\u308a\u7d0418\u306e\u5883\u754c\u3092\u751f\u3058\u305f\u3002<br>\u3055\u3089\u306b\u3001\u3053\u306e\u9818\u57df\u306e\u30af\u30ed\u30fc\u30f3\u304c2003\u5e747\u6708\u306e\u914d\u5217\u51cd\u7d50\u3067\u793a\u3055\u308c\u3066\u3044\u308b\u3088\u3046\u306b\u9806\u5e8f\u4ed8\u3051\u3089\u308c\u3066\u3044\u308b\u3068\u3001\u6b20\u5931\u5883\u754c\u306f\u8907\u96d1\u306b\u898b\u3048\u3001\u5883\u754c\u306b\u96a3\u63a5\u3059\u308b\u30af\u30ed\u30fc\u30f3\u306e\u6bd4\u7387\u306b\u632f\u52d5\u304c\u3042\u308b\u3002 \u30af\u30ed\u30fc\u30f3\u3092\u4e26\u3079\u66ff\u3048\u308b\u3068\u3001\u3059\u3079\u3066\u306e\u5834\u5408\u306b\u304a\u3044\u3066\u6b20\u5931\u5883\u754c\u306e\u898b\u304b\u3051\u4e0a\u306e\u69cb\u9020\u304c\u5358\u7d14\u5316\u3055\u308c\u308b\u3002 <a href=\"#table_1\">\u88683<\/a>\u3067\u306f\u3001\u30af\u30ed\u30fc\u30f3\u3092\u6539\u8a02\u3057\u305f\u9806\u5e8f\u3067\u5217\u6319\u3059\u308b\u304c\u3001\u30b2\u30ce\u30e0\u914d\u5217\u306e\u96c6\u5408\u306b\u57fa\u3065\u3044\u3066\u5869\u57fa\u914d\u5217\u306e\u4f4d\u7f6e\u3092\u793a\u3059\u3002 \u3053\u308c\u3089\u306e\u7d50\u679c\u306f\u3001\u7570\u5e38\u5f62\u6210\u3092\u4fc3\u9032\u3057\u3001\u30b2\u30ce\u30e0\u914d\u5217\u306e\u9069\u5207\u306a\u96c6\u5408\u3092\u8907\u96d1\u306b\u3059\u308b\u3044\u304f\u3064\u304b\u306e\u914d\u5217\u30e2\u30c1\u30fc\u30d5\u304c\u3053\u306e\u9818\u57df\u306b\u5b58\u5728\u3059\u308b\u53ef\u80fd\u6027\u3092\u793a\u5506\u3059\u308b\u3002 \u3042\u308b\u3044\u306f\u3001\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u30a2\u30bb\u30f3\u30d6\u30ea\u304c\u6b63\u3057\u3051\u308c\u3070\u3001\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u5883\u754c\u306e\u30af\u30e9\u30b9\u30bf\u30fc\u306f\u3001\u5c40\u6240\u7684\u306a\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u7279\u5fb4\u3092\u53cd\u6620\u3059\u308b\u53cd\u5fa9\u8907\u7d20\u6570\u30b3\u30d4\u30fc\u69cb\u9020\u3092\u6709\u3059\u308b\u3002 \u3088\u308a\u9ad8\u3044\u5bc6\u5ea6\u306e\u30af\u30ed\u30fc\u30f3\u88ab\u8986\u7387\u306f\u3001\u3053\u306e\u30af\u30e9\u30b9\u30bf\u30fc\u9818\u57df\u306e\u30b5\u30a4\u30ba\u3092\u6f5c\u5728\u7684\u306b\u72ed\u3081\u30015p\u306b\u304a\u3051\u308b\u4ed6\u306e\u5207\u65ad\u70b9\u30af\u30e9\u30b9\u30bf\u30fc\u3092\u6f5c\u5728\u7684\u306b\u660e\u3089\u304b\u306b\u3059\u308b\u3067\u3042\u308d\u3046\u3002<br>\u308f\u308c\u308f\u308c\u304c\u767a\u898b\u3057\u305f\u7b2c2\u306e\u914d\u5217\u7279\u5fb4\u306f\u3001\u6b63\u5e38\u30d2\u30c8\u30b2\u30ce\u30e0\u306b\u304a\u3051\u308b5p\u4e0a\u306e\u914d\u5217\u91cd\u8907\u9818\u57df\u3067\u3042\u3063\u305f\u3002 58\u4f8b(\u4f8b\u3048\u3070\u3001<a href=\"#figure_1\">\u56f31A\u304a\u3088\u30731B<\/a>)\u306e\u30c7\u30fc\u30bf\u306f\u3001\u30af\u30ed\u30fc\u30f339\u304c\u3001\u5468\u56f2\u306e\u30af\u30ed\u30fc\u30f3\u304c\u660e\u78ba\u306b\u6b20\u5931\u3055\u308c\u305f\u3068\u304d\u3001\u6b63\u5e38\u9818\u57df\u3067\u4e88\u60f3\u3055\u308c\u308b\u3082\u306e\u3068\u6b20\u5931\u306e\u4e2d\u9593\u306e\u3001log2\u6bd4\uff5e<br>-0.4\u3092\u6709\u3059\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u3002 \u3057\u304b\u3057\u306a\u304c\u3089\u3001\u6b20\u5931\u304c\u30af\u30ed\u30fc\u30f351\u304a\u3088\u307352\u306e\u9818\u57df\u3092\u542b\u3080\u3088\u3046\u306b\u8fd1\u4f4d\u306b\u5ef6\u9577\u3055\u308c\u305f\u5834\u5408\u3001\u30af\u30ed\u30fc\u30f339\u4e0a\u306e\u6bd4\u7387\u306f\u671f\u5f85\u5024\u307e\u3067\u4f4e\u4e0b\u3057\u305f\u3002 \u3053\u306e\u3053\u3068\u306f\u3001\u30af\u30ed\u30fc\u30f339\u306e\u914d\u5217\u306e\u304b\u306a\u308a\u306e\u90e8\u5206\u304c\u3001\u30af\u30ed\u30fc\u30f351\u306852\u306e\u9593\u30675p\u4e0a\u3067\u8907\u88fd\u3055\u308c\u305f\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u304a\u308a\u3001\u30af\u30ed\u30fc\u30f339\u306e\u307f\u3092\u542b\u3080\u6b20\u5931\u306f\u30014\u30b3\u30d4\u30fc\u304b\u30893\u30b3\u30d4\u30fc(log2[3\/4] \uff5e-0.4)\u3078\u306e\u5909\u5316\u3092\u8868\u3059\u3002<br>\u3053\u306eBAC\u3092\u30d7\u30ed\u30fc\u30d6\u3068\u3057\u3066\u7528\u3044\u305fFISH\u89e3\u6790\u306b\u3088\u308a\u3001\u3053\u306e\u4eee\u5b9a\u304c\u78ba\u8a8d\u3055\u308c\u30015p\u306b2\u3064\u306e\u8fd1\u63a5\u3057\u305f\u4fe1\u53f7\u304c\u767a\u898b\u3055\u308c\u305f\u3002 \u30d2\u30c8\u30b2\u30ce\u30e0\u914d\u5217\u306e\u4e00\u90e8\u306e\u51cd\u7d50(2002\u5e746\u6708\u30012002\u5e7411\u6708\u30012003\u5e744\u6708)\u306b\u3088\u308a\u3001\u3053\u306e\u91cd\u8907\u306e\u5b58\u5728\u304c\u793a\u3055\u308c\u3001\u3053\u306eBAC\u4e2d\u306e\u30de\u30fc\u30ab\u30fc\u304c20.791 Mb\u304a\u3088\u307334.070 Mb(2003\u5e744\u6708)\u306e\u4e21\u65b9\u306b\u4f4d\u7f6e\u3059\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u305f\u3002<br>2003\u5e747\u6708\u306e\u51cd\u7d50\u306f\u3001\u91cd\u8907\u3092\u793a\u3059\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002 \u3053\u306e\u30bf\u30a4\u30d7\u306e\u5927\u304d\u306a\u91cd\u8907\u306f\u30b2\u30ce\u30e0\u4e2d\u3067\u983b\u7e41\u306b\u8d77\u3053\u308b(Lupski et al. 1996; Eichler 2001)<br>DNA\u30b3\u30d4\u30fc\u6570\u306b\u591a\u578b\u306f\u8a8d\u3081\u3089\u308c\u306a\u304b\u3063\u305f(Albertson and Pinkel 2003; Iafrate et al. 2004; Sebat et al. 2004)\u30af\u30ed\u30fc\u30f339\u3092\u542b\u3080\u8a66\u6599\u304c\u3053\u306e\u30bb\u30c3\u30c8\u3067\u898b\u3064\u304b\u3063\u305f\u3002 \u3053\u306e\u9818\u57df\u306b\u304a\u3051\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u914d\u5217\u8907\u96d1\u6027\u306e\u3055\u3089\u306a\u308b\u793a\u5506\u306f\u3001<a href=\"#table_3\">\u88683<\/a>\u306b\u8a18\u8f09\u3055\u308c\u3066\u3044\u308b\u3088\u3046\u306b\u3001\u914d\u5217\u96c6\u5408\u304c\u30af\u30ed\u30fc\u30f351\u8fd1\u508d\u306e\u6211\u3005\u306e\u6b20\u5931\u5883\u754c\u306e\u6700\u3082\u5358\u7d14\u306a\u89e3\u91c8\u306b\u3088\u3063\u3066\u793a\u3055\u308c\u308b\u30af\u30ed\u30fc\u30f3\u306e\u9806\u5e8f\u3068\u4e00\u81f4\u3057\u306a\u3044\u3068\u3044\u3046\u4e8b\u5b9f\u3067\u3042\u308b\u3002<\/p>\n<h4>\u6b20\u5931\u306b\u5bfe\u3059\u308bMR\u306e\u4f9d\u5b58\u6027<\/h4>\n<p><a href=\"#figure_2\">\u56f32A<\/a>\u306f\u30015p\u306e\u6b20\u5931\u3068\u60a3\u8005\u306eMR\u72b6\u614b\u3068\u306e\u95a2\u4fc2\u3092\u793a\u3057\u3066\u304a\u308a\u3001\u60a3\u8005\u306f\u9045\u5ef6\u306e\u30ec\u30d9\u30eb\u3092\u5897\u52a0\u3055\u305b\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u9806\u5e8f\u4ed8\u3051\u3089\u308c\u3066\u3044\u308b\u3002 \u3053\u306e\u95a2\u4fc2\u306f\u8907\u96d1\u3067\u3001\u3044\u304f\u3076\u3093\u5f53\u60d1\u3057\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u308b\u3002 \u6b20\u5931\u306e\u7a0b\u5ea6\u304c\u5897\u52a0\u3059\u308b\u306b\u3064\u308c\u3066\u3001\u9045\u5ef6\u306e\u91cd\u75c7\u5ea6\u304c\u660e\u3089\u304b\u306b\u5897\u52a0\u3059\u308b\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u91cd\u8981\u306a\u4f8b\u5916\u304c\u3042\u308b\u3002 \u4f8b\u3048\u3070\u30015p\u306b\u9593\u8cea\u6027\u6b20\u5931\u3092\u6709\u3059\u308b\u60a3\u8005\u306e\u4e2d\u306b\u306f\u3001\u5f71\u97ff\u3092\u53d7\u3051\u3066\u3044\u306a\u3044\u304b\u3001\u307e\u305f\u306f\u3054\u304f\u308f\u305a\u304b\u306b\u9045\u5ef6\u3057\u3066\u3044\u308b\u60a3\u8005\u3082\u3044\u308b\u304c\u3001\u540c\u3058\u9818\u57df\u306b\u5c0f\u3055\u306a\u6b20\u5931\u3092\u6709\u3059\u308b\u60a3\u8005\u3067\u306f\u3001\u8457\u3057\u304f\u9045\u5ef6\u3057\u3066\u3044\u308b\u60a3\u8005\u3082\u3044\u308b\u3002<\/p>\n<p>\u5f93\u6765\u306e\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u304a\u3088\u3073FISH\u89e3\u6790\u306f\u3053\u308c\u3089\u306e\u88ab\u9a13\u8005\u306b\u5bfe\u3057\u3066\u4ee5\u524d\u306b\u5b9f\u65bd\u3055\u308c\u3066\u304a\u308a\u3001\u4e00\u90e8\u306e\u60a3\u8005\u306b\u304a\u3051\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306f\u8907\u96d1\u3067\u3042\u308a\u30015\u756a\u67d3\u8272\u4f53\u306b\u52a0\u3048\u3066\u67d3\u8272\u4f53\u306e\u518d\u914d\u5217\u304c\u95a2\u4e0e\u3059\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u305f\u3002 \u3057\u305f\u304c\u3063\u3066\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u30c7\u30fc\u30bf\u3092\u63d0\u4f9b\u3059\u308b\u30a2\u30ec\u30a4\u3092\u7528\u3044\u3066\u300137\u4f8b\u306e\u60a3\u8005\u3092\u5206\u6790\u3057\u305f\u3002 \u3053\u308c\u3089\u306e\u75c7\u4f8b\u306f\u3001\u4e00\u822c\u7684\u306a\u50be\u5411\u3068\u6bd4\u8f03\u3057\u305f\u5834\u5408\u30015p\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u3066\u9045\u5ef6\u30ec\u30d9\u30eb\u3092\u8aac\u660e\u3067\u304d\u306a\u3044\u3068\u601d\u308f\u308c\u308b\u3059\u3079\u3066\u306e\u75c7\u4f8b\u306b\u52a0\u3048\u3001\u50be\u5411\u306b\u9069\u5408\u3059\u308b\u307b\u307c\u540c\u6570\u3092\u52a0\u3048\u305f\u3082\u306e\u3067\u3042\u3063\u305f\u3002 \u91cd\u5ea6\u306e\u9045\u5ef6\u304a\u3088\u3073\u308f\u305a\u304b\u306a5p\u6b20\u5931\u304c\u8a8d\u3081\u3089\u308c\u305f\u88ab\u9a13\u8005\u306f\u3044\u305a\u308c\u3082\u3001\u8ffd\u52a0\u7684\u306a\u5897\u6e1b\u304c\u8a8d\u3081\u3089\u308c\u305f(\u4f8b:\u60a3\u800545\u4f8b[<a href=\"#figure_1\">\u56f31C<\/a>\u306b\u793a\u3059])\u3002<br>\u7279\u7570\u7684\u306a\u8868\u73fe\u578b\u3078\u306e\u5f71\u97ff\u306f\u3001\u3053\u308c\u3089\u306e\u8ffd\u52a0\u7684\u306a\u7570\u5e38\u306e\u3044\u305a\u308c\u306b\u3082\u7279\u7570\u7684\u306b\u8d77\u56e0\u3059\u308b\u3082\u306e\u3067\u306f\u306a\u304b\u3063\u305f\u3002 \u7570\u5e38\u304c\u8a8d\u3081\u3089\u308c\u305f\u88ab\u9a13\u8005\u306e\u8a73\u7d30\u3092<a href=\"#table_4\">\u88684<\/a>\u306b\u793a\u3059\u3002 \u3053\u308c\u3089\u306e\u6e2c\u5b9a\u306b\u306f\u3001\u9032\u5316\u3059\u308b\u30af\u30ed\u30fc\u30f3\u7d44\u6210\u3092\u6709\u3059\u308b\u30a2\u30ec\u30a4\u3092\u4f7f\u7528\u3057\u305f\u305f\u3081\u3001\u8ffd\u52a0\u306e\u53ce\u5dee\u306e\u5883\u754c\u304c\u5b9a\u7fa9\u3055\u308c\u308b\u7cbe\u5ea6\u306f\u53ef\u5909\u3067\u3042\u308b\u3002 \u3057\u304b\u3057\u306a\u304c\u3089\u3001\u3053\u308c\u3089\u306e\u7570\u5e38\u306f\u3001\u5178\u578b\u7684\u306b\u306f\u3001\u5c11\u306a\u304f\u3068\u3082\u3044\u304f\u3064\u304b\u306e\u9023\u7d9a\u3057\u305f\u914d\u5217\u8981\u7d20\u3092\u542b\u307f\u3001\u975e\u7f79\u60a3\u8005\u306b\u304a\u3051\u308b\u30b3\u30d4\u30fc\u6570\u591a\u578b\u3088\u308a\u3082\u304b\u306a\u308a\u5927\u304d\u304f\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u660e\u3089\u304b\u3067\u3042\u308b(Albertson and Pinkel 2003; Iafrate et al. 2004; Sebatet al. 2004).<br>\u3053\u308c\u3089\u306e\u8907\u96d1\u306a\u4f8b\u306e\u3044\u304f\u3064\u304b\u306f\u3001\u6b20\u5931\u5883\u754c\u306e\u8fd1\u4f4d\u306b\u3042\u308b\u3044\u304f\u3064\u304b\u306e\u91cd\u8907\u3057\u305f\u7269\u8cea\u3092\u542b\u3080\u3001\u7b2c5\u67d3\u8272\u4f53\u306b\u5f71\u97ff\u3059\u308b\u3055\u3089\u306a\u308b\u7570\u5e38\u3092\u542b\u3080\u3002 <a href=\"#figure_2\">\u56f32B<\/a>\u306f\u30015p\u6b20\u5931\u3092\u6709\u3057\u3001\u4ed6\u306b\u7570\u5e38\u304c\u691c\u51fa\u3055\u308c\u306a\u304b\u3063\u305f\u5168\u3066\u306e\u60a3\u8005\u306b\u3064\u3044\u3066\u3001\u6b20\u5931\u3068MR\u30ec\u30d9\u30eb\u3068\u306e\u95a2\u4fc2\u3092\u793a\u3059\u3002 MR\u306e\u91cd\u75c7\u5ea6\u3068\u6b20\u5931\u306e\u5927\u304d\u3055\u3068\u4f4d\u7f6e\u3068\u306e\u95a2\u4fc2\u306f\u3001\u4eca\u3084\u306f\u308b\u304b\u306b\u4e00\u8cab\u3057\u3066\u3044\u308b\u3002<\/p>\n<h4>\u6ce3\u304d\u58f0\u3001\u767a\u58f0\u9045\u5ef6\u3001\u9854\u306e\u5f62\u614b\u7570\u5e38\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u67d3\u8272\u4f53\u9818\u57df<\/h4>\n<p>\u6ce3\u304d\u58f0\u3001\u767a\u58f0\u3001\u304a\u3088\u3073\u9854\u306e\u7279\u5fb4\u306b\u5f71\u97ff\u3059\u308b\u67d3\u8272\u4f53\u9818\u57df\u306f\u3001\u4ee5\u524d\u306b5p\u306e\u9060\u4f4d\u90e8\u5206\u306b\u30de\u30c3\u30d4\u30f3\u30b0\u3055\u308c\u3066\u3044\u308b(Overhauser et al. 1994; Gersh et al. 1995, 1997).<br><a href=\"#figure_3\">\u56f33<\/a>\u306f\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u95a2\u4fc2\u306b\u95a2\u3059\u308b\u60c5\u5831\u3092\u63d0\u4f9b\u3059\u308b\u6b20\u5931\u5883\u754c\u3092\u3082\u3064\u88ab\u9a13\u8005\u306e\u30c7\u30fc\u30bf\u3092\u793a\u3057\u3066\u3044\u308b\u3002 \u305d\u308c\u305e\u308c\u306e\u5834\u5408\u306b\u3064\u3044\u3066\u3001\u5883\u754c\u306b\u3042\u308b\u30af\u30ed\u30fc\u30f3\u3092\u793a\u3059\u3002 \u7279\u5fb4\u7684\u306a\u6ce3\u304d\u58f0\u306b\u5f71\u97ff\u3059\u308b\u9818\u57df\u306f\u3001\u60a3\u800549\u304a\u3088\u3073252\u306b\u304a\u3051\u308b\u5dee\u306b\u3088\u308a\u6700\u3082\u72ed\u304f\u5b9a\u7fa9\u3055\u308c\u3001\u3044\u305a\u308c\u3082\u9593\u8cea\u6027\u6b20\u5931\u3092\u6709\u3059\u308b\u3002 cry\u3092\u6709\u3059\u308b\u60a3\u800549\u306b\u3064\u3044\u3066\u306f\u3001\u6b20\u5931\u306f\u30af\u30ed\u30fc\u30f312\u306e\u8fd1\u4f4d\u304b\u3089\u59cb\u307e\u308a\u3001cry\u3092\u6709\u3055\u306a\u3044\u60a3\u8005252\u306b\u3064\u3044\u3066\u306f\u3001\u6b20\u5931\u306f\u30af\u30ed\u30fc\u30f314\u307e\u3067\u306e\u914d\u5217\u3092\u4fdd\u6301\u3057\u5f97\u308b\u3002 \u3053\u306e\u3088\u3046\u306b\u3001\u3053\u306e\u8868\u73fe\u578b\u306b\u95a2\u4e0e\u3059\u308b\u67d3\u8272\u4f53\u9818\u57df\u306f\u3001\u3053\u308c\u3089\u306e\u30af\u30ed\u30fc\u30f3\u306e\u9593\u306e1.5Mb\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b\u3002<\/p>\n<p>\u7279\u5fb4\u7684\u306a\u9854\u306e\u7279\u5fb4\u306b\u5f71\u97ff\u3059\u308b\u9818\u57df\u306f\u3001\u60a3\u8005117\u3001202\u3001\u304a\u3088\u3073114\u306b\u3088\u3063\u3066\u6700\u3082\u72ed\u304f\u5b9a\u7fa9\u3055\u308c\u308b\u3002 \u60a3\u8005117\u306f\u3001\u30af\u30ed\u30fc\u30f317\u306818\u306e\u9593\u306b\u59cb\u307e\u308b\u672b\u7aef\u6b20\u5931\u3092\u6709\u3057\u3001\u9854\u9762\u8868\u73fe\u578b\u3092\u6709\u3055\u306a\u3044\u3002 \u3057\u305f\u304c\u3063\u3066\u3001\u91cd\u8981\u306a\u9818\u57df\u306f\u30af\u30ed\u30fc\u30f317\u306e\u8fd1\u4f4d\u306b\u4f4d\u7f6e\u3057\u306a\u3051\u308c\u3070\u306a\u3089\u306a\u3044\u3002\u306a\u305c\u306a\u3089\u3001\u3053\u306e\u4f4d\u7f6e\u307e\u3067\u6750\u6599\u3092\u4fdd\u6301\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u304b\u3089\u3067\u3042\u308b\u3002 \u60a3\u8005202\u306f\u3001\u3088\u308a\u5927\u304d\u306a\u672b\u7aef\u6b20\u5931\u3092\u6709\u3057\u3001\u30af\u30ed\u30fc\u30f326\u306827\u3068\u306e\u9593\u306e\u5883\u754c\u3092\u6709\u3057\u3001\u8868\u73fe\u578b\u3092\u6709\u3059\u308b\u3002 \u3053\u308c\u306f\u3001\u30af\u30ed\u30fc\u30f317\u306827\u306e\u9593\u306e2.4-Mb\u9818\u57df\u3092\u3001\u9854\u306e\u7279\u5fb4\u3092\u62c5\u3046\u9818\u57df\u3068\u5b9a\u7fa9\u3059\u308b\u3002 \u60a3\u8005114\u306f\u3001\u3053\u306e\u9818\u57df\u306e\u8fd1\u4f4d\u9650\u754c\u3092\u652f\u6301\u3059\u308b\u3002 \u60a3\u8005114\u306f\u9593\u8cea\u6027\u6b20\u5931\u3092\u6709\u3057\u3001\u30af\u30ed\u30fc\u30f326\u306827\u3068\u306e\u9593\u306e\u9060\u4f4d\u5883\u754c\u3092\u6709\u3057\u3001\u8868\u73fe\u578b\u3092\u6709\u3055\u305a\u3001\u3053\u306e\u8868\u73fe\u578b\u306e\u91cd\u8981\u306a\u4f4d\u7f6e\u3092\u30af\u30ed\u30fc\u30f327\u306e\u9060\u4f4d\u306b\u7f6e\u304f\u3002 \u672c\u767a\u660e\u8005\u3089\u306f\u3001\u3053\u306e\u63d0\u6848\u3055\u308c\u305f\u81e8\u754c\u9818\u57df\u3092\u542b\u3080\u6b20\u5931\u3092\u6709\u3059\u308b\u60a3\u8005252\u306f\u3001\u60a3\u8005\u304c\u8868\u73fe\u578b\u3092\u6709\u3055\u306a\u3044\u305f\u3081\u3001\u4e0d\u4e00\u81f4\u3067\u3042\u308b\u3053\u3068\u306b\u7559\u610f\u3059\u308b\u3002<\/p>\n<p>\u767a\u8a9e\u9045\u5ef6\u306b\u95a2\u4e0e\u3059\u308b\u67d3\u8272\u4f53\u9818\u57df\u306f\u3001\u9593\u8cea\u6027\u6b20\u5931\u3092\u6709\u3059\u308b\u60a3\u8005102\u4eba\u3001225\u4eba\u3001\u304a\u3088\u307349\u4eba\u306e\u30c7\u30fc\u30bf\u306b\u3088\u3063\u3066\u6700\u3082\u3088\u304f\u5b9a\u7fa9\u3055\u308c\u308b\u3002 \u8868\u73fe\u578b\u3092\u6709\u3059\u308b\u60a3\u8005102\u304a\u3088\u3073225\u3067\u306f\u3001\u6b20\u5931\u306f\u30af\u30ed\u30fc\u30f34\u306e\u8fd1\u4f4d\u306b\u3042\u308b\u3002 \u8868\u73fe\u578b\u3092\u6301\u305f\u306a\u3044\u60a3\u800549\u3067\u306f\u3001\u67d3\u8272\u4f53\u306e\u9060\u4f4d\u90e8\u5206\u306f\u30af\u30ed\u30fc\u30f313\u307e\u3067\u4fdd\u6301\u3055\u308c\u5f97\u308b\u3002 \u3057\u305f\u304c\u3063\u3066\u3001\u97f3\u58f0\u9045\u5ef6\u306f\u30af\u30ed\u30fc\u30f34\u306813\u306e\u9593\u306e3.2-Mb\u9818\u57df\u5185\u306e\u6b20\u5931\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308b\u3002<\/p>\n<\/section>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E8%80%83%E5%AF%9F\"><\/span>\u8003\u5bdf<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u767a\u751f\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u60a3\u8005\u306e\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u3068\u306e\u95a2\u4fc2\u306e\u78ba\u7acb\u306f\u3001\u75c7\u72b6\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u7684\u30e1\u30ab\u30cb\u30ba\u30e0\u306e\u767a\u898b\u306b\u5411\u3051\u305f\u7b2c\u4e00\u6b69\u3067\u3042\u308a\u3001\u60a3\u8005\u306b\u304a\u3051\u308b\u75be\u60a3\u306e\u81e8\u5e8a\u7684\u7ba1\u7406\u306e\u57fa\u790e\u3092\u63d0\u4f9b\u3059\u308b\u3002 \u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u3092\u5f15\u304d\u8d77\u3053\u3059<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306b\u95a2\u3059\u308b\u591a\u304f\u306e\u4ee5\u524d\u306e\u7814\u7a76\u306f\u3001<a href=\"#figure_2\">\u56f34<\/a>\u306b\u8981\u7d04\u3055\u308c\u3066\u3044\u308b\u3088\u3046\u306b\u3001\u3053\u306e\u95a2\u4fc2\u306e\u6982\u8981\u3092\u78ba\u7acb\u3057\u3066\u3044\u308b\u3002 \u53e4\u5178\u7684\u8868\u73fe\u578b\u306e\u7570\u306a\u308b\u6210\u5206\u306b\u5225\u3005\u306b\u5f71\u97ff\u3059\u308b\u67d3\u8272\u4f535p\u4e0a\u306e\u3044\u304f\u3064\u304b\u306e\u9818\u57df\u304c\u5b9a\u7fa9\u3055\u308c\u3066\u304a\u308a\u30015p15.2\u306e1\u3064\u306fMR\u306b\u5f37\u3044\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u300ccri du chat critical region\u300d(CdCCR)\u3068\u547c\u3070\u308c\u3001\u4ed6\u306f\u7279\u5fb4\u7684\u306a\u6ce3\u304d\u58f0\u3001\u8a00\u8a9e\u9045\u5ef6\u3001\u9854\u306e\u7279\u5fb4\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3002 \u3057\u304b\u3057\u3001MR\u3068\u6b20\u5931\u306e\u95a2\u4fc2\u306b\u3064\u3044\u3066\u306e\u8b70\u8ad6\u3092\u542b\u3081\u3001\u7a2e\u3005\u306e\u7814\u7a76\u9593\u306b\u6709\u610f\u306a\u76f8\u9055\u304c\u3042\u3063\u305f\u3002 \u30a2\u30ec\u30a4CGH\u3092\u7528\u3044\u3066\u3001\u614e\u91cd\u306b\u8868\u73fe\u578b\u3092\u8a55\u4fa1\u3057\u305f\u60a3\u8005\u7fa4\u306b\u304a\u3051\u308bDNA\u30b3\u30d4\u30fc\u6570\u5909\u5316\u306e\u52b9\u7387\u7684\u306a\u9ad8\u89e3\u50cf\u5ea6\u5206\u6790\u3092\u884c\u3063\u305f\u672c\u7814\u7a76\u306f\u3001\u8868\u73fe\u578b\u306e\u7279\u7570\u7684\u5074\u9762\u306b\u95a2\u3059\u308b\u3088\u308a\u6b63\u78ba\u306a\u60c5\u5831\u3092\u63d0\u4f9b\u3057\u3001\u8b70\u8ad6\u306e\u4f59\u5730\u306e\u3042\u308b\u554f\u984c\u306e\u3044\u304f\u3064\u304b\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u3002<\/p>\n<p>\u6b20\u5931\u30b5\u30a4\u30ba\u3068MR\u3068\u306e\u95a2\u4fc2\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3042\u308a\u3001\u3044\u304f\u3064\u304b\u306e\u7814\u7a76\u3067\u306f\u3001\u6b20\u5931\u30b5\u30a4\u30ba\u304c\u5897\u52a0\u3059\u308b\u306b\u3064\u308c\u3066\u3001\u5f71\u97ff\u306e\u91cd\u75c7\u5ea6\u304c\u6f38\u9032\u7684\u306b\u5897\u52a0\u3059\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u3055\u308c\u3066\u3044\u308b(Mainardi et al. 2001\u5e74\u306b\u306f\u3001\u3053\u306e\u3088\u3046\u306a\u95a2\u4fc2\u306f\u898b\u51fa\u3055\u308c\u306a\u304b\u3063\u305f(Marinescu et al. 1999a).<br>\u6211\u3005\u306e\u7814\u7a76\u3067\u306f\u3001\u6211\u3005\u306e\u6e2c\u5b9a(Niebuhr 1978a, 1978b; Overhauser et al)\u306e\u4f55\u5e74\u3082\u524d\u306b\u3001\u5358\u4e00\u89b3\u5bdf\u8005(E.N.)\u306b\u3088\u3063\u3066\u4e00\u8cab\u3057\u305f\u65b9\u6cd5\u3067MR\u72b6\u614b\u3092\u6570\u5024\u30b9\u30b1\u30fc\u30eb\u3067\u8a55\u4fa1\u3055\u308c\u305f\u4e00\u9023\u306e\u60a3\u8005\u3092\u5206\u6790\u3057\u305f\u3002 1990\u5e74\u3001Kjaer and Niebuhr 1999\u5e74\u3002<br>\u9045\u5ef6\u306e\u8a55\u4fa1\u306f\u60a3\u8005\u306e\u5e74\u9f62\u306b\u4f9d\u5b58\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u6211\u3005\u306f5\u6b73\u4ee5\u4e0a\u306e\u5834\u5408\u306b\u8a55\u4fa1\u3092\u5b9f\u65bd\u3057\u305f\u60a3\u8005\u306e\u307f\u3092\u5bfe\u8c61\u3068\u3057\u305f\u3002 \u3059\u3079\u3066\u306e\u5206\u6790\u306f\u3001\u30a8\u30d7\u30b9\u30bf\u30a4\u30f3-\u30d0\u30fc\u30a6\u30a4\u30eb\u30b9\u5f62\u8cea\u8ee2\u63db\u7d30\u80de\u682a\u3088\u308a\u3082\u672b\u68a2\u8840\u304b\u3089\u5358\u96e2\u3055\u308c\u305fDNA\u3092\u7528\u3044\u305f\u305f\u3081\u3001\u5f62\u8cea\u8ee2\u63db\u8a98\u767a\u6027\u306e\u7570\u5e38\u306f\u6211\u3005\u306e\u7d50\u679c\u3092\u6df7\u4e71\u3055\u305b\u306a\u304b\u3063\u305f\u3002<\/p>\n<p><a href=\"#figure_2\">\u56f32A<\/a>\u306b5p\u306e\u6b20\u5931\u3068MR\u30ec\u30d9\u30eb\u306e\u95a2\u4fc2\u3092\u793a\u3059\u3002 MR\u30ec\u30d9\u30eb\u304c\u7d043\u307e\u3067\u306e\u60a3\u8005\u306fMR\u30ec\u30d9\u30eb5\u4ee5\u4e0a\u306e\u60a3\u8005\u3088\u308a\u3082\u6b20\u5931\u304c\u5c0f\u3055\u3044\u3053\u3068\u306f\u660e\u3089\u304b\u3067\u3042\u308b\u304c\u3001\u6b20\u5931\u30b5\u30a4\u30ba\u306b\u5bfe\u3059\u308b\u9045\u5ef6\u306e\u4f9d\u5b58\u6027\u306f\u5f31\u3044\u3088\u3046\u3067\u3042\u308b\u3002 \u4f8b\u3048\u3070\u3001MR\u30ec\u30d9\u30eb5\u4ee5\u4e0a\u3067\u306f\u3001\u7570\u306a\u308b\u9045\u5ef6\u30ec\u30d9\u30eb\u306e\u9593\u3067\u6b20\u5931\u7bc4\u56f2\u304c\u307b\u307c\u5b8c\u5168\u306b\u91cd\u8907\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u30ec\u30d9\u30eb-5\u306eMR\u3092\u6709\u3059\u308b\u591a\u304f\u306e\u60a3\u8005\u306f\u30ec\u30d9\u30eb-7\u306eMR\u3092\u6709\u3059\u308b\u60a3\u8005\u3068\u540c\u69d8\u306e5p\u6b20\u5931\u3092\u6709\u3059\u308b\u3002 \u3055\u3089\u306b\u3001\u3044\u304f\u3064\u304b\u306e\u9855\u8457\u306a\u4e0d\u4e00\u81f4\u304c\u3042\u308b\u3002 \u60a3\u8005112\u304a\u3088\u3073114\u306f\u7d0410Mb\u306e\u9593\u8cea\u6027\u6b20\u5931\u3092\u6709\u3057\u3001MR\u30ec\u30d9\u30eb\u306f1\uff5e2\u3067\u3042\u308b\u304c\u3001\u9855\u8457\u306b\u7f79\u60a3\u3057\u305f\u60a3\u800545\u306f\u540c\u3058\u9818\u57df\u3067\u306f\u308b\u304b\u306b\u5c0f\u3055\u3044\u9593\u8cea\u6027\u6b20\u5931\u3092\u6709\u3059\u308b\u3002<\/p>\n<p>\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u89e3\u6790\u306b\u3088\u308a\u3001\u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u306e\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u3001\u30b2\u30ce\u30e0\u306e\u4ed6\u306e\u9818\u57df\u304c\u95a2\u4e0e\u3059\u308b\u30b3\u30d4\u30fc\u6570\u7570\u5e38\u3092\u4f34\u3046\u8907\u96d1\u306a\u67d3\u8272\u4f53\u518d\u69cb\u6210\u304c\u8a8d\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u4ee5\u524d\u306b\u793a\u3055\u308c\u3066\u3044\u308b\u3002 \u5f93\u3063\u3066\u3001\u8457\u8005\u3089\u306f\u30015p\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u3066\u9045\u5ef6\u30ec\u30d9\u30eb\u3092\u8aac\u660e\u3067\u304d\u306a\u3044\u3068\u601d\u308f\u308c\u308b\u60a3\u8005\u5168\u54e1\u3092\u542b\u308037\u4eba\u306e\u60a3\u8005\u306b\u5bfe\u3057\u3066\u5168\u30b2\u30ce\u30e0\u30a2\u30ec\u30a4CGH\u3092\u884c\u3063\u305f\u3002 <a href=\"#table_4\">\u88684<\/a>\u306b\u793a\u3059\u3088\u3046\u306b\u3001\u3053\u308c\u3089\u306e\u60a3\u8005\u306e\u3046\u306115\u4f8b\u3067\u306f\u30015p\u6b20\u5931\u306b\u52a0\u3048\u3066\u7570\u5e38\u304c\u8a8d\u3081\u3089\u308c\u305f\u3002 \u8457\u8005\u3089\u306e\u7d50\u679c\u306f\u3001\u8457\u3057\u304f\u9045\u5ef6\u3057\u305f\u5bfe\u8c61\u306e\u5927\u90e8\u5206(14\/22)\u304c5p\u6b20\u5931\u306b\u52a0\u3048\u3066\u7570\u5e38\u3092\u6709\u3059\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u3002 \u308f\u308c\u308f\u308c\u304c\u691c\u51fa\u3057\u305f\u552f\u4e00\u306e\u7570\u5e38\u304c5p\u306e\u6b20\u5931\u3067\u3042\u3063\u305f\u88ab\u9a13\u8005\u306b\u6ce8\u610f\u3092\u5411\u3051\u3055\u305b\u308b\u3068\u3001\u6b20\u5931\u306e\u5927\u304d\u3055\u3068\u4f4d\u7f6e\u306b\u5bfe\u3059\u308b\u9045\u5ef6\u306e\u4f9d\u5b58\u6027\u304c\u306f\u308b\u304b\u306b\u660e\u3089\u304b\u306b\u306a\u308b\u3002<a href=\"#figure_2\">\u56f32B<\/a>\u306f\u3001\u9045\u5ef6\u30ec\u30d9\u30eb3.5\u4ee5\u4e0a\u306b\u3064\u3044\u3066\u3001\u6b20\u5931\u30b5\u30a4\u30ba\u304c\u5897\u52a0\u3059\u308b\u306b\u3064\u308c\u3066\u9045\u5ef6\u304c\u5358\u8abf\u306b\u5897\u52a0\u3059\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u308b\u3002 \u3053\u306e\u4e00\u822c\u7684\u306a\u884c\u52d5\u304b\u3089\u306e\u308f\u305a\u304b\u306a\u9038\u8131\u306f\u3001\u60a3\u8005\u306e\u907a\u4f1d\u7684\u56e0\u5b50\u306e\u4fee\u98fe\u3001MR\u30ec\u30d9\u30eb\u306e\u6c7a\u5b9a\u306e\u4e0d\u78ba\u5b9f\u6027\u3001\u307e\u305f\u306f\u30b2\u30ce\u30e0\u306e\u4ed6\u306e\u90e8\u4f4d\u3067\u691c\u51fa\u3055\u308c\u306a\u304b\u3063\u305f\u5c0f\u3055\u306a\u7570\u5e38\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308d\u3046\u3002 <a href=\"#figure_2\">\u56f32B<\/a>\u306b\u793a\u3059\u3088\u3046\u306b\u3001MR\u3068\u6b20\u5931\u3068\u306e\u95a2\u4fc2\u304c\u660e\u78ba\u3067\u3042\u308b\u3053\u3068\u306f\u3001\u60a3\u8005\u306e\u8868\u73fe\u578b\u8a55\u4fa1\u306e\u6b63\u78ba\u3055\u3092\u88cf\u4ed8\u3051\u308b\u3082\u306e\u3067\u3042\u308b\u3053\u3068\u306b\u7559\u610f\u3059\u308b\u3002\u306a\u305c\u306a\u3089\u3001\u5076\u7136\u306bMR\u304c\u8d77\u3053\u3063\u305f\u53ef\u80fd\u6027\u306f\u6975\u3081\u3066\u4f4e\u3044\u304b\u3089\u3067\u3042\u308b\u3002 \u6b20\u5931\u5883\u754c\u304c5pter\u304b\u308933 Mb\u3088\u308a\u3082\u8fd1\u4f4d\u306b\u3042\u308b\u60a3\u8005\u304c\u3044\u306a\u3044\u3053\u3068\u306f\u3001\u3053\u306e\u3088\u3046\u306a\u6b20\u5931\u304c\u767a\u751f\u4e2d\u306b\u81f4\u6b7b\u7684\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/p>\n<p>\u30a2\u30ec\u30a4CGH\u306f\u3001\u6a19\u6e96\u7684\u306a\u7d30\u80de\u907a\u4f1d\u5b66\u3088\u308a\u3082\u30b2\u30ce\u30e0\u306e\u3088\u308a\u5b8c\u5168\u306a\u8a55\u4fa1\u3092\u63d0\u4f9b\u3059\u308b\u3002 \u5168\u4f53\u3068\u3057\u3066\u3001\u88ab\u9a13\u8005\u306e\u7d0416%\u306b\u8907\u96d1\u306a\u7570\u5e38\u304c\u8a8d\u3081\u3089\u308c\u3001\u3053\u308c\u307e\u3067\u306e\u8a66\u9a13(Niebuhr 1978a; Mainardi et al.)\u306e12%\uff5e13%\u3088\u308a\u3082\u3084\u3084\u5927\u304d\u304b\u3063\u305f\u3002 2001).<br>\u30a2\u30ec\u30a4CGH(\u4f8b\u3001\u60a3\u8005206)\u3067\u65b0\u305f\u306b\u7528\u91cf\u7570\u5e38\u304c\u8a8d\u3081\u3089\u308c\u305f\u88ab\u9a13\u8005\u306e\u591a\u304f(\u5168\u54e1\u3067\u306f\u306a\u3044)\u3067\u306f\u30015\u756a\u67d3\u8272\u4f53\u304a\u3088\u3073\u4ed6\u306e\u67d3\u8272\u4f53\u3092\u542b\u3080\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u306b\u691c\u51fa\u3055\u308c\u305f\u69cb\u9020\u7570\u5e38\u304c\u8a8d\u3081\u3089\u308c\u305f(<a href=\"#table_1\">\u88681<\/a>)\u3002<br>\u9006\u306b\u3001\u67d3\u8272\u4f53\u9593\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u7570\u5e38\u3092\u6709\u3059\u308b\u4e00\u90e8\u306e\u88ab\u9a13\u8005(\u4f8b\u3001\u60a3\u80054\u304a\u3088\u307349)\u3067\u306f\u3001\u67d3\u8272\u4f535p\u4ee5\u5916\u306b\u30b3\u30d4\u30fc\u6570\u306e\u5909\u5316\u306f\u8a8d\u3081\u3089\u308c\u306a\u304b\u3063\u305f\u3002<br>\u5f93\u3063\u3066\u3001\u30a2\u30ec\u30a4CGH\u306e\u3088\u308a\u9ad8\u3044\u5206\u89e3\u80fd\u304a\u3088\u3073\u52b9\u7387\u306f\u3001\u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u7528\u91cf\u7570\u5e38\u306e\u8a55\u4fa1\u306b\u91cd\u8981\u306a\u5229\u70b9\u3092\u6709\u3057\u3001\u7279\u306b\u91cd\u5ea6\u306e\u9045\u5ef6\u60a3\u8005\u306b\u5bfe\u3057\u3066\u6709\u610f\u306a\u8a3a\u65ad\u7684\u5229\u70b9\u3092\u6709\u3059\u308b\u3079\u304d\u3067\u3042\u308a\u3001\u305d\u306e\u3046\u3061\u306e\u7d043\u5206\u306e2\u306f\u4e2d\u7b49\u5ea6\u306e5p\u6b20\u5931\u304a\u3088\u3073\u8ffd\u52a0\u306e\u7570\u5e38\u3092\u6709\u3059\u308b\u3002<\/p>\n<p><a href=\"#figure_2\">\u56f32B<\/a>\u306b\u793a\u3059\u3088\u3046\u306b\u3001MR\u304c5p\u6b20\u5931\u306b\u4f9d\u5b58\u3057\u3066\u3044\u308b\u3053\u3068\u304b\u3089\u3001\u3053\u306e\u8868\u73fe\u578b\u306b\u7570\u306a\u308b\u5f71\u97ff\u3092\u4e0e\u3048\u308b3\u3064\u306e\u67d3\u8272\u4f53\u9818\u57df\u304c\u5b58\u5728\u3059\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u308b\u3002 \u6700\u521d\u306eMRI\u306f\u3001\u9045\u5ef6\u30ec\u30d9\u30eb2.5\u4ee5\u4e0a\u306e\u5168\u60a3\u8005\u306e\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u3002 \u60a3\u8005117\u304a\u3088\u307356\u306e\u6240\u898b\u306f\u3001MRI\u304c5p15.31\u306e\u30af\u30ed\u30fc\u30f315\u306818\u306e\u9593\u306e1.2- Mb\u9818\u57df\u306b\u9650\u5c40\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u304a\u308a\u3001\u3053\u308c\u306f\u3001\u4ed6\u306e\u6587\u732e\u3067\u5b9a\u7fa9\u3055\u308c\u3066\u3044\u308b\u3088\u3046\u306b\u30015p15.2\u306eCdCCR\u306e\u672b\u7aef\u306b\u3042\u308b(Overhauser et al. 1994; Mainardi et al. 2001).<br>\u3069\u306e\u304f\u3089\u3044\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304cMRI\u306b\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u306f\u4e0d\u660e\u3067\u3042\u308b\u304c\u3001\u305d\u306e\u30b5\u30a4\u30ba\u304c\u9650\u3089\u308c\u3066\u3044\u308b\u3053\u3068\u304b\u3089\u3001\u975e\u5e38\u306b\u5c11\u6570\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u308b\u3002<\/p>\n<p>\u4ed6\u306e2\u3064\u306e\u9818\u57df\u3001MRII\u304a\u3088\u3073MRIII\u306f\u3001<a href=\"#figure_2\">\u56f32B<\/a>\u306b\u793a\u3059\u3088\u3046\u306b\u3001MRI\u306e\u3059\u3050\u8fd1\u4f4d\u306b\u4f4d\u7f6e\u3059\u308b\u3002 MRII\u306b\u9650\u5b9a\u3055\u308c\u305f\u6b20\u5931\u306f\u8efd\u5ea6\u306e\u5f71\u97ff\u3092\u53ca\u307c\u3059\u304c\u3001MRIII\u306e\u307f\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u6b20\u5931(\u4f8b\u3001\u60a3\u800551)\u306f\u3001\u8b58\u5225\u53ef\u80fd\u306a\u8868\u73fe\u578b\u3092\u3082\u305f\u3089\u3055\u306a\u3044\u3002 \u3057\u304b\u3057\u306a\u304c\u3089\u3001MRI\u3092\u542b\u3080\u6b20\u5931\u3092\u6709\u3059\u308b\u60a3\u8005\u306f\u3001\u6b20\u5931\u304cMRII\u304a\u3088\u3073MRIII\u306b\u53ca\u3076\u306b\u3064\u308c\u3066\u3001\u6b21\u7b2c\u306b\u91cd\u5ea6\u306e\u9045\u5ef6\u3092\u6765\u3057\u3066\u3044\u308b\u3002 \u3053\u306e\u3088\u3046\u306b\u3001MRII\u304a\u3088\u3073MRIII\u5185\u306e\u4e00\u9023\u306e\u907a\u4f1d\u5b50\u304c\u3001\u304a\u305d\u3089\u304fMRI\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u306e\u4fee\u98fe\u3092\u4ecb\u3057\u3066\u3001\u8868\u73fe\u578b\u306b\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u3088\u3046\u3067\u3042\u308b\u3002<\/p>\n<p>\u3053\u308c\u3089\u306e\u5883\u754c\u306e\u5b9a\u7fa9\u306f\u3001\u3082\u3061\u308d\u3093\u3001\u3044\u304f\u3089\u304b\u306e\u4e0d\u78ba\u5b9f\u6027\u306b\u3055\u3089\u3055\u308c\u3001\u6b20\u5931\u304cMR\u306b\u3069\u306e\u3088\u3046\u306b\u5f71\u97ff\u3059\u308b\u304b\u306b\u3064\u3044\u3066\u3001\u6839\u5e95\u306b\u3042\u308b\u30e2\u30c7\u30eb\u3092\u63a1\u7528\u3059\u308b\u304b\u3069\u3046\u304b\u306b\u4f9d\u5b58\u3059\u308b\u3002 \u308f\u308c\u308f\u308c\u306e\u30e2\u30c7\u30eb\u306f\u57fa\u672c\u7684\u306bMRI\u306b\u652f\u914d\u7684\u306a\u5f79\u5272\u3092\u5272\u308a\u5f53\u3066\u3066\u304a\u308a\u3001MRII\u304a\u3088\u3073MRIII\u306b\u304a\u3051\u308b\u3055\u3089\u306a\u308b\u7570\u5e38\u306f\u3001\u8868\u73fe\u578b\u306e\u91cd\u75c7\u5ea6\u3092\u5287\u7684\u306b\u5897\u5927\u3055\u305b\u308b\u50cd\u304d\u3092\u3059\u308b\u3002 MRI\u306e\u9060\u4f4d\u5883\u754c\u306f\u3001\u30af\u30ed\u30fc\u30f315\u3088\u308a\u9060\u4f4d\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u307e\u305f\u306f\u4fdd\u6301\u304c\u6211\u3005\u306e\u60a3\u8005\u306eMR\u30ec\u30d9\u30eb\u306b\u6709\u610f\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3055\u306a\u3044\u3068\u3044\u3046\u4e8b\u5b9f\u306b\u3088\u3063\u3066\u8a2d\u5b9a\u3055\u308c\u308b\u3002 \u3057\u304b\u3057\u3001MRI\u306e\u9060\u4f4d\u9818\u57df\u306b\u9650\u5c40\u3057\u305f\u6b20\u5931\u3092\u6709\u3059\u308b\u6211\u3005\u306e\u30bb\u30c3\u30c8\u306e\u60a3\u8005\u306f\u5b58\u5728\u305b\u305a\u3001\u7d76\u5bfe\u7684\u306b\u78ba\u8a8d\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u306a\u3044\u3002 \u6b20\u5931\u304c\u306a\u3044\u3053\u3068\u306f\u3001MR\u8868\u73fe\u578b\u306e\u6b20\u5982\u306b\u3088\u308b\u78ba\u8a8d\u306e\u6b20\u5982\u3092\u793a\u3059\u304b\u3082\u3057\u308c\u306a\u3044\u304c\u3001\u305d\u306e\u3088\u3046\u306a\u500b\u4f53\u306f\u3001\u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u306e\u4ed6\u306e\u7279\u5fb4\u3092\u6709\u3059\u308b\u3053\u3068\u3092\u671f\u5f85\u3059\u308b\u3067\u3042\u308d\u3046\u3002<\/p>\n<p>MRI\u306e\u8fd1\u4f4d\u5883\u754c\u3092\u8a2d\u5b9a\u3059\u308b\u3053\u3068\u306f\u3001\u3088\u308a\u554f\u984c\u304c\u591a\u3044\u3002<br>\u4ee5\u4e0a\u3001\u6211\u3005\u306f\u3001\u60a3\u8005117\u306e\u5883\u754c\u3092\u7528\u3044\u3066\u3001\u30c7\u30fc\u30bf\u3068\u4e00\u81f4\u3059\u308b\u6700\u5c0f\u53ef\u80fd\u9818\u57df\u306e\u9078\u629e\u3092\u793a\u3057\u305f\u3002 \u3057\u304b\u3057\u3001\u305d\u308c\u307b\u3069\u91cd\u75c7\u3067\u306f\u306a\u304f\u3001\u3088\u308a\u91cd\u75c7\u306e\u9045\u5ef6\u30ec\u30d9\u30eb\u3092\u6709\u3059\u308b\u4ed6\u306e\u88ab\u9a13\u8005\u3067\u306f\u3001\u308f\u305a\u304b\u306b\u5927\u304d\u306a\u6b20\u5931\u304c\u8a8d\u3081\u3089\u308c\u3001\u30af\u30ed\u30fc\u30f326\uff5e28\u306e\u8fd1\u304f\u306e\u5207\u65ad\u70b9\u30af\u30e9\u30b9\u30bf\u30fc\u9818\u57df\u306e\u5883\u754c\u304c\u8a8d\u3081\u3089\u308c\u308b\u3002 \u5f93\u3063\u3066\u3001\u60a3\u8005117\u306f\u3044\u304f\u3076\u3093\u7570\u5e38\u3067\u3042\u308a\u3001\u305d\u306e\u305f\u3081\u3001MRI\u306f\u3001\u30af\u30ed\u30fc\u30f328\u306b\u5bfe\u3057\u3066\u3055\u3089\u306b2 Mb\u3092\u9060\u4f4d\u5074\u306b\u5ef6\u9577\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3002 \u3053\u306e\u9818\u57df\u3092\u3088\u308a\u660e\u78ba\u306b\u5b9a\u7fa9\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u5341\u5206\u306b\u7279\u5fb4\u3065\u3051\u3089\u308c\u305f\u8868\u73fe\u578b\u3092\u6709\u3059\u308b\u591a\u6570\u306e\u8ffd\u52a0\u75c7\u4f8b\u306e\u5206\u6790\u304c\u5fc5\u8981\u3067\u3042\u308d\u3046\u3002<\/p>\n<p>MRII\u304a\u3088\u3073MRIII\u306b\u9650\u5b9a\u3055\u308c\u305f\u6b20\u5931\u306f\u3001\u8efd\u5ea6\u306e\u7f79\u60a3\u307e\u305f\u306f\u8868\u73fe\u578b\u304c\u6b63\u5e38\u306a\u500b\u4f53\u3092\u3082\u305f\u3089\u3059\u3002 \u3057\u304b\u3057\u3001\u6bd4\u8f03\u7684\u6b63\u5e38\u306a\u8868\u73fe\u578b\u306f\u300c\u8106\u5f31\u300d\u3067\u3042\u308b\u3088\u3046\u306b\u898b\u3048\u308b\u3002\u306a\u305c\u306a\u3089\u3001\u4ed6\u306e\u7570\u5e38\u304c\u91cd\u5ea6\u306e\u8868\u73fe\u578b\u3092\u3082\u305f\u3089\u3059\u304b\u3089\u3067\u3042\u308b\u3002<br>\u3053\u308c\u3089\u306e\u8ffd\u52a0\u7684\u306a\u7570\u5e38\u306b\u306f\u3001\u4e0a\u8ff0\u306e\u3088\u3046\u306aMRI\u306e\u6b20\u5931\u3001\u304a\u3088\u3073\/\u307e\u305f\u306f\u7b2c5\u67d3\u8272\u4f53(\u60a3\u800525\u300148\u3001104\u3001201\u3001\u304a\u3088\u3073251\u306e\u5834\u5408)\u307e\u305f\u306f\u4ed6\u306e\u67d3\u8272\u4f53(<a href=\"#table_4\">\u88684<\/a>)\u4e0a\u306e\u4ed6\u306e\u90e8\u4f4d\u3067\u306e\u5897\u6e1b\u304c\u542b\u307e\u308c\u308b\u3002<br>\u4f8b\u3048\u3070\u3001\u8457\u3057\u304f\u9045\u5ef6\u3057\u305f\u60a3\u800545\u306f\u30015p\u306bMRII\u5185\u306b\u308f\u305a\u304b\u306a\u6b20\u5931\u3057\u304b\u306a\u304f\u3001\u3053\u308c\u306f\u975e\u5e38\u306b\u8efd\u5ea6\u306e\u9045\u5ef6\u3092\u751f\u3058\u308b\u3068\u4e88\u60f3\u3055\u308c\u308b\u3002 \u3053\u306e\u3088\u3046\u306b\u30016q\u306e\u8ffd\u52a0\u6b20\u5931(<a href=\"#figure_1\">\u56f31C<\/a>)\u306f\u3001\u304a\u305d\u3089\u304f\u975e\u5e38\u306b\u91cd\u5ea6\u306eMR\u8868\u73fe\u578b\u3092\u3082\u305f\u3089\u3059\u3002 \u308f\u308c\u308f\u308c\u306f\u3001MRII\u304a\u3088\u3073MRIII\u306e\u5897\u52a0\u304c\u8868\u73fe\u578b\u306b\u5f71\u97ff\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u306b\u7559\u610f\u3059\u308b\u3002 MR\u30ec\u30d9\u30eb6.5\u306e\u60a3\u800548\u306f\u3001\u9045\u5ef6\u30ec\u30d9\u30eb4\uff5e5\u3068\u4e00\u81f4\u3059\u308bMRII\u304a\u3088\u3073MRIII\u306e\u4e00\u90e8\u3092\u6b20\u5931\u3057\u3066\u3044\u308b\u3002 \u3053\u306e\u3088\u3046\u306b\u3001MRII\u304a\u3088\u3073MRIII\u306e\u4e00\u90e8\u306e\u91cd\u8907(\u6b20\u5931\u5883\u754c\u306b\u304a\u3051\u308b)\u306f\u5f37\u3044\u52b9\u679c\u3092\u6709\u3059\u308b\u3002<\/p>\n<p>MRIII\u306e\u6b20\u5931\u3092\u6709\u3059\u308b\u500b\u4eba\u306b\u304a\u3051\u308b\u6b63\u5e38\u306a\u8868\u73fe\u578b\u306e\u8106\u5f31\u6027\u3082\u3001\u5bb6\u7cfb\u30c7\u30fc\u30bf\u306b\u3088\u3063\u3066\u793a\u3055\u308c\u308b\u3002 \u4f8b\u3048\u3070\u3001\u60a3\u800551\u306b\u304a\u3051\u308b\u6b20\u5931\u306f\u3001\u6bcd\u89aa\u304a\u3088\u3073\u7956\u7236\u6bcd\u306b\u5b58\u5728\u3057\u30013\u3064\u306e\u5168\u3066\u306f\u5f71\u97ff\u3092\u53d7\u3051\u306a\u3044\u3002 \u3057\u304b\u3057\u306a\u304c\u3089\u3001MRIII\u306e\u6b20\u5931\u3092\u6709\u3059\u308b\u7f79\u60a3\u3057\u3066\u3044\u306a\u3044\u4e21\u89aa\u306f\u3001\u6b20\u5931\u3092\u907a\u4f1d\u3057\u305f\u7f79\u60a3\u5c0f\u5150\u3092\u6709\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308b(Hand et al. 2000\u3001Johnson et al. 2000)\u3002<br>\u3053\u306e\u8868\u73fe\u578b\u306e\u5909\u5316\u306f\u3001\u6b63\u5e38\u306a\u30b2\u30ce\u30e0\u3092\u3082\u3064\u4eba\u306b\u6709\u5bb3\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3055\u306a\u3044\u74b0\u5883\u7684\u307e\u305f\u306f\u907a\u4f1d\u7684\u4fee\u98fe\u56e0\u5b50\u304c\u3001MRIII\u6b20\u5931\u3092\u3082\u3064\u4eba\u306b\u91cd\u5927\u306a\u7d50\u679c\u3092\u3082\u305f\u3089\u3059\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002 \u3042\u308b\u3044\u306f\u3001\u7f79\u60a3\u3057\u305f\u5c0f\u5150\u306f\u3001\u3053\u308c\u3089\u306e\u7814\u7a76\u3067\u7528\u3044\u3089\u308c\u305f\u6280\u8853\u3067\u306f\u691c\u51fa\u3055\u308c\u306a\u304b\u3063\u305f\u3055\u3089\u306a\u308b\u7570\u5e38\u3092\u6709\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3002 \u9ad8\u89e3\u50cf\u5ea6\u5168\u30b2\u30ce\u30e0\u30a2\u30ec\u30a4CGH\u306f\u3053\u306e\u3088\u3046\u306a\u7570\u5e38\u3092\u691c\u51fa\u3057\u3001\u3053\u306e\u3088\u3046\u306a\u5c0f\u5150\u306e\u907a\u4f1d\u5b50\u578b\u72b6\u614b\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/p>\n<p>\u8457\u8005\u3089\u306e\u6e2c\u5b9a\u306f\u307e\u305f\u3001\u7279\u5fb4\u7684\u306a\u6ce3\u304d\u3001\u9854\u306e\u7279\u5fb4\u3001\u304a\u3088\u3073\u97f3\u58f0\u9045\u5ef6\u306b\u5f71\u97ff\u3059\u308b\u67d3\u8272\u4f535p\u4e0a\u306e\u9818\u57df\u306e\u6539\u5584\u3055\u308c\u305f\u5c40\u5728\u5316\u3092\u63d0\u4f9b\u3057\u305f\u3002 cry\u9818\u57df\u3067\u306f\u30011\u3064\u306e\u30af\u30ed\u30fc\u30f3\u306e\u307f\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u8868\u73fe\u578b\u3092\u6709\u3059\u308b\u60a3\u8005\u3068\u6301\u305f\u306a\u3044\u60a3\u8005\u304c\u533a\u5225\u3055\u308c\u305f\u3002 \u3053\u308c\u306b\u3088\u308a\u30012\u3064\u306e\u30d5\u30e9\u30f3\u30ad\u30f3\u30b0\u30af\u30ed\u30fc\u30f3(\u305d\u308c\u305e\u308c\u30de\u30fc\u30ab\u30fcD5S2054\u304a\u3088\u3073D5S676\u3092\u542b\u3080)\u306e\u9593\u306b\u3001\u53ef\u80fd\u6027\u306e\u3042\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u30a2\u30ec\u30a4\u4e0a\u306b\u914d\u7f6e\u3055\u308c\u308b\u3002 \u5f93\u3063\u3066\u3001\u3053\u308c\u30892\u3064\u306e\u30b1\u30fc\u30b9\u306e\u9ad8\u89e3\u50cf\u5ea6\u5206\u6790\u306f\u3001\u81e8\u754c\u9818\u57df\u306b\u3088\u308a\u53b3\u3057\u3044\u9650\u754c\u5024\u3092\u914d\u7f6e\u3059\u308b\u3053\u3068\u3092\u53ef\u80fd\u306b\u3059\u308b\u3067\u3042\u308d\u3046\u3002 \u8907\u6570\u30a2\u30ec\u30a4\u30af\u30ed\u30fc\u30f3\u304c\u305d\u308c\u3089\u306e\u4e2d\u306b\u542b\u307e\u308c\u3066\u3044\u308b\u306e\u3067\u3001\u73fe\u5728\u306e\u75c7\u4f8b\u306e\u9ad8\u8aa4\u5dee\u89e3\u6d88\u5206\u6790\u306f\u3001\u97f3\u58f0\u9045\u5ef6\u307e\u305f\u306f\u9854\u9818\u57df\u3092\u5b9f\u8cea\u7684\u306b\u7cbe\u7dfb\u5316\u3057\u306a\u3044\u3067\u3042\u308d\u3046\u3002 \u907a\u4f1d\u5b50\u578b-\u8868\u73fe\u578b\u95a2\u4fc2\u306b\u95a2\u3059\u308b\u6211\u3005\u306e\u7d50\u679c\u3092\u3001\u3053\u308c\u307e\u3067\u306e\u516c\u8868\u6587\u732e\u3068\u6bd4\u8f03\u3057\u305f\u7d50\u679c\u3092<a href=\"#figure_4\">\u56f34<\/a>\u306b\u793a\u3059\u3002<\/p>\n<p>\u8981\u7d04\u3059\u308b\u3068\u3001\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u95a2\u4fc2\u306e\u7406\u89e3\u3092\u6539\u5584\u3059\u308b\u305f\u3081\u306b\u30a2\u30ec\u30a4CGH\u3092\u7528\u3044\u3066\u30015p\u6b20\u5931\u3092\u6709\u3059\u308b94\u4eba\u306e\u60a3\u8005\u306b\u304a\u3051\u308b\u7570\u5e38\u3092\u30de\u30c3\u30d4\u30f3\u30b0\u3057\u305f\u3002 \u8457\u8005\u3089\u306f\u3001\u60a3\u8005\u306eMR\u30ec\u30d9\u30eb\u306b\u7570\u306a\u308b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u67d3\u8272\u4f53\u306e3\u3064\u306e\u9818\u57df\u304c\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u3002 \u3053\u308c\u30893\u3064\u306e\u9818\u57df\u306e\u5168\u90e8\u307e\u305f\u306f\u4e00\u90e8\u304c\u95a2\u4e0e\u3059\u308b\u6b20\u5931\u306f\u3001\u30b2\u30ce\u30e0\u4e2d\u306e\u4ed6\u306e\u7570\u5e38\u3068\u76f8\u307e\u3063\u3066\u3001\u5b8c\u5168\u306aMR\u8868\u73fe\u578b\u3092\u751f\u3058\u308b\u3088\u3046\u306b\u76f8\u4e92\u4f5c\u7528\u3059\u308b\u3002 \u6700\u5f8c\u306b\u3001\u8457\u8005\u3089\u306e\u9ad8\u89e3\u50cf\u5ea6\u30c7\u30fc\u30bf\u306f\u3001\u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u5178\u578b\u7684\u306a\u6ce3\u304d\u3001\u9854\u306e\u7279\u5fb4\u3001\u304a\u3088\u3073\u8a00\u8a9e\u9045\u5ef6\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u306e\u4f4d\u7f6e\u306e\u7cbe\u7dfb\u5316\u3092\u53ef\u80fd\u306b\u3057\u305f\u3002<\/p>\n<\/section>\n<section id=\"table_2\" class=\"note_table\">\n<h4>\u88682<br>MR\u306e\u5206\u985e<\/h4>\n<div class=\"table-sp-scroll\">\n<table><colgroup> <col> <col> <col style=\"width: 38%;\"> <col style=\"width: 38%;\"> <\/colgroup>\n<thead>\n<tr>\n<th rowspan=\"2\">MR\u30ec\u30d9\u30eb<\/th>\n<th rowspan=\"2\">\u8aac\u660e(IQ)<\/th>\n<th colspan=\"2\">\u8868\u73fe\u578b<\/th>\n<\/tr>\n<tr>\n<th>\u5150\u7ae5<\/th>\n<th>\u5e7c\u5150<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>0<\/td>\n<td>\u6b63\u5e38<\/td>\n<td>MR\u306f\u3042\u308a\u307e\u305b\u3093<\/td>\n<td>MR\u306f\u3042\u308a\u307e\u305b\u3093<\/td>\n<\/tr>\n<tr>\n<td>1<\/td>\n<td>\u5883\u76ee<br>(&lt;70)<\/td>\n<td>\u6a19\u6e96\u7684\u306a\u5b66\u6821\u306b\u9577\u5e74\u901a\u3044\u3001\u30de\u30a4\u30ca\u30fc\/\u30e1\u30b8\u30e3\u30fc\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u5fc5\u8981\u3068\u3059\u308b<\/td>\n<td>\u6b63\u5e38\u306a\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u3001\u6700\u521d\u306e\u5b66\u6821\u306e\u5e74\u306b\u660e\u3089\u304b\u306a\u8efd\u5ea6\u306e\u9045\u5ef6<\/td>\n<\/tr>\n<tr>\n<td>2<\/td>\n<td>\u975e\u5e38\u306b\u7a4f\u3084\u304b<br>(&lt;65)<\/td>\n<td>\u6a19\u6e96\u7684\u306a\u5b66\u6821\u306b\u6570\u5e74\u9593\u901a\u3044\u3001\u5927\u304d\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u5fc5\u8981\u3068\u3057\u3001\u7c21\u5358\u306a\u8aad\u307f\u66f8\u304d\u3068\u6570\u5b66\u306e\u80fd\u529b\u304c\u3042\u308b\u3002<\/td>\n<td>\u6700\u521d\u306e\u6570\u5e74\u9593\u306f\u6b63\u5e38\u306a\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u30012-3\u6b73\u304b\u3089\u660e\u3089\u304b\u306a\u8efd\u5ea6\u306e\u9045\u5ef6<\/td>\n<\/tr>\n<tr>\n<td>3<\/td>\n<td>\u7a4f\u3084\u304b<br>(&lt;50)<\/td>\n<td>\u9577\u6587\u3082\u542b\u3081\u3066\u5168\u3066\u3092\u7406\u89e3\u3057\u3001\u975e\u5e38\u306b\u7c21\u5358\u306a\u8aad\u307f\u66f8\u304d\u3068\u7b97\u6570\u306e\u80fd\u529b\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/td>\n<td>\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u306f\u6570\u304b\u6708\u9593\u9045\u308c\u3066\u3044\u307e\u3059\u3002<\/td>\n<\/tr>\n<tr>\n<td>4<\/td>\n<td>\u4e2d\u7a0b\u5ea6<br>(&lt;35)<\/td>\n<td>\u307b\u3068\u3093\u3069\u306e\u3053\u3068\u3092\u7406\u89e3\u3057\u3001\u5c0f\u3055\u306a\u6587\u7ae0\u3068\u305f\u304f\u3055\u3093\u306e\u30b5\u30a4\u30f3\u3092\u4f7f\u3046\u3002<\/td>\n<td>\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u6570\u304b\u6708\u9045\u308c\u308b\u30021\u6b73\u304b\u3089\u660e\u3089\u304b\u306a\u9045\u308c<\/td>\n<\/tr>\n<tr>\n<td>5<\/td>\n<td>\u91cd\u5ea6<br>(&lt;20)<\/td>\n<td>\u7c21\u5358\u306a\u65e5\u5e38\u6587\u3068\u5358\u8a9e\u3092\u7406\u89e3\u3057\u30012\uff5e3\u8a9e\u306e\u6587\u7ae0\u3068\u591a\u304f\u306e\u30b5\u30a4\u30f3\u3092\u4f7f\u7528\u3057\u3001\u6b69\u304f\u3002<\/td>\n<td>\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u6570\u304b\u6708\u304b\u30891\u5e74\u9045\u308c\u308b\u3002MR\u306f1\u6b73\u524d\u306b\u660e\u3089\u304b\u306b\u306a\u308b<\/td>\n<\/tr>\n<tr>\n<td>6<\/td>\n<td>\u975e\u5e38\u306b\u6df1\u523b<br>(&lt;10)<\/td>\n<td>\u3044\u304f\u3064\u304b\u306e\u8a00\u8449\u3092\u7406\u89e3\u3067\u304d\u308b\u3002\u901a\u5e38\u306f\u3001\u652f\u3048\u3089\u308c\u3066\u3044\u308c\u3070\u3001\u4e0d\u5b89\u5b9a\u306b\u6b69\u3044\u3066\u3044\u308b\u3002\u8a00\u8449\u304c\u306a\u3044\u304b\u3001\u3044\u304f\u3064\u304b\u306e\u8a00\u8449\u3057\u304b\u306a\u3044\u3002<\/td>\n<td>\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u306f\u6570\u5e74\u9045\u308c\u3066\u3044\u308b\uff1bMR\u306f6\u304b\u6708\u524d\u306b\u660e\u3089\u304b\u306b\u306a\u308b<\/td>\n<\/tr>\n<tr>\n<td>7<\/td>\n<td>\u6df1\u9060<\/td>\n<td>\u8efd\u5ea6\u307e\u305f\u306f\u7121\u53cd\u5fdc\u3092\u793a\u3057\u3001\u5ea7\u3063\u305f\u308a\u7acb\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/td>\n<td>5\u6b73\u306b\u306a\u3063\u3066\u3082\u72ec\u308a\u3067\u5ea7\u308b\u3053\u3068\u304c\u3067\u304d\u306a\u3044\u3002<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p class=\"can_slide\">\u6a2a\u306b\u30b9\u30e9\u30a4\u30c9\u3067\u304d\u307e\u3059<\/p>\n<\/div>\n<\/section>\n<section id=\"table_3\" class=\"note_table\">\n<h4>\u88683<br>5p\u89e3\u6790\u7528\u30a2\u30ec\u30a4\u30af\u30ed\u30fc\u30f3<\/h4>\n<div class=\"table-sp-scroll\">\n<table><colgroup> <col style=\"width: 10%;\"> <col> <col> <col> <col> <col> <col> <\/colgroup>\n<thead>\n<tr>\n<th rowspan=\"2\">\u30af\u30ed\u30fc\u30f3\u6570<\/th>\n<th colspan=\"2\">\u30de\u30fc\u30ab\u30fc<\/th>\n<th colspan=\"3\">\u4f4d\u7f6e<\/th>\n<th rowspan=\"2\">\u30af\u30ed\u30fc\u30f3\u540d\u79f0<\/th>\n<\/tr>\n<tr>\n<th>\u8a18\u53f7<\/th>\n<th>\u540d\u79f0<\/th>\n<th>\u7d30\u80de\u907a\u4f1d\u5b66<sup>a<\/sup><\/th>\n<th>\u914d\u5217(Mb)<sup>a<\/sup><\/th>\n<th>\u907a\u4f1d\u7684(cM)<sup>b<\/sup><\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>1<\/td>\n<td>D5S1981<\/td>\n<td>AFMa217zh1<\/td>\n<td>5p15.33<\/td>\n<td>1.207<\/td>\n<td>1<\/td>\n<td>CTC-326E20<\/td>\n<\/tr>\n<tr>\n<td>2<\/td>\n<td>D5S2005<\/td>\n<td>AFMB002xc1<\/td>\n<td>5p15.33<\/td>\n<td>1.395<\/td>\n<td>0<\/td>\n<td>RP11-94J21<\/td>\n<\/tr>\n<tr>\n<td>3<\/td>\n<td>D5S1970<\/td>\n<td>AFMa183wh5<\/td>\n<td>5p15.33<\/td>\n<td>2.497<\/td>\n<td>5<\/td>\n<td>CTB-116F8<\/td>\n<\/tr>\n<tr>\n<td>4<\/td>\n<td>D5S417<\/td>\n<td>AFM205wh8<\/td>\n<td>5p15.33<\/td>\n<td>3.174<\/td>\n<td>6<\/td>\n<td>RP11-20B3<\/td>\n<\/tr>\n<tr>\n<td>5<\/td>\n<td>D5S1980<\/td>\n<td>AFMA217yh1<\/td>\n<td>5p15.33<\/td>\n<td>3.449<\/td>\n<td>7<\/td>\n<td>RP11-82M24<\/td>\n<\/tr>\n<tr>\n<td>6<\/td>\n<td>D5S675<\/td>\n<td>AFM336tc1<\/td>\n<td>5p15.33<\/td>\n<td>3.998<\/td>\n<td>9<\/td>\n<td>RP11-103L11<\/td>\n<\/tr>\n<tr>\n<td>7<\/td>\n<td>D5S1906<\/td>\n<td>WI-2725<\/td>\n<td>5p15.33<\/td>\n<td>4.258<\/td>\n<td>&nbsp;<\/td>\n<td>CTB-27O23<\/td>\n<\/tr>\n<tr>\n<td>8<\/td>\n<td>D5S405<\/td>\n<td>AFM154xa3<\/td>\n<td>5p15.33<\/td>\n<td>3.995<\/td>\n<td>9<\/td>\n<td>RP11-227M19<\/td>\n<\/tr>\n<tr>\n<td>9<\/td>\n<td>D5S406<\/td>\n<td>AFM154xg3<\/td>\n<td>5p15.32<\/td>\n<td>5.047<\/td>\n<td>12<\/td>\n<td>RP11-58A5<\/td>\n<\/tr>\n<tr>\n<td>10<\/td>\n<td>D5S1921<\/td>\n<td>WI-2897<\/td>\n<td>5p15.32<\/td>\n<td>5.200<\/td>\n<td>&nbsp;<\/td>\n<td>CTC-263B18<\/td>\n<\/tr>\n<tr>\n<td>11<\/td>\n<td>D5S464<\/td>\n<td>AFM112xe3<\/td>\n<td>5p15.32<\/td>\n<td>5.890<\/td>\n<td>15<\/td>\n<td>CTC-248O4<\/td>\n<\/tr>\n<tr>\n<td>12<\/td>\n<td>D5S2054<\/td>\n<td>AFMB355wb1<\/td>\n<td>5p15.32<\/td>\n<td>5.945<\/td>\n<td>&nbsp;<\/td>\n<td>RP11-53K22<\/td>\n<\/tr>\n<tr>\n<td>13<\/td>\n<td>D5S635<\/td>\n<td>AFM276yb9<\/td>\n<td>5p15.32\/15.31<\/td>\n<td>6.365<\/td>\n<td>16<\/td>\n<td>RP11-36H5<\/td>\n<\/tr>\n<tr>\n<td>14<\/td>\n<td>D5S676<\/td>\n<td>AFM347yg9<\/td>\n<td>5p15.31<\/td>\n<td>7.492<\/td>\n<td>18<\/td>\n<td>RP11-46O23<\/td>\n<\/tr>\n<tr>\n<td>15<\/td>\n<td>D5S18<sup>c<\/sup><\/td>\n<td>&nbsp;<\/td>\n<td>5p15.31<\/td>\n<td>8.021<\/td>\n<td>&nbsp;<\/td>\n<td>CTB-16G3<\/td>\n<\/tr>\n<tr>\n<td>16<\/td>\n<td>D5S1957<\/td>\n<td>AFMa124wg5<\/td>\n<td>5p15.31<\/td>\n<td>8.550<\/td>\n<td>20<\/td>\n<td>CTB-27I9<\/td>\n<\/tr>\n<tr>\n<td>17<\/td>\n<td>D5S208<\/td>\n<td>&nbsp;<\/td>\n<td>5p15.31<\/td>\n<td>9.039<\/td>\n<td>21<\/td>\n<td>DPA-896A3<\/td>\n<\/tr>\n<tr>\n<td>18<\/td>\n<td>D5S74<sup>d<\/sup><\/td>\n<td>&nbsp;<\/td>\n<td>5p15.31<\/td>\n<td>9.288<\/td>\n<td>&nbsp;<\/td>\n<td>DPA-671G7<\/td>\n<\/tr>\n<tr>\n<td>19<\/td>\n<td>D5S630<\/td>\n<td>AFM268zd9<\/td>\n<td>5p15.31<\/td>\n<td>9.614<\/td>\n<td>21<\/td>\n<td>DPA-255H3<\/td>\n<\/tr>\n<tr>\n<td>20<\/td>\n<td>D5S759<\/td>\n<td>AFM204ze1<\/td>\n<td>5p15.31\/15.2<\/td>\n<td>10.100<\/td>\n<td>&nbsp;<\/td>\n<td>DPA-1398C5<\/td>\n<\/tr>\n<tr>\n<td>21<\/td>\n<td>D5S1850<\/td>\n<td>WI6722<\/td>\n<td>5p15.2<\/td>\n<td>10.328<\/td>\n<td>&nbsp;<\/td>\n<td>DPA-1104F2<\/td>\n<\/tr>\n<tr>\n<td>22<\/td>\n<td>D5S23<sup>e<\/sup><\/td>\n<td>&nbsp;<\/td>\n<td>5p15.2<\/td>\n<td>10.364<\/td>\n<td>&nbsp;<\/td>\n<td>DPA-1349G2<\/td>\n<\/tr>\n<tr>\n<td>23<\/td>\n<td>AFM042xa11<\/td>\n<td>&nbsp;<\/td>\n<td>5p15.2<\/td>\n<td>10.403<\/td>\n<td>23<\/td>\n<td>RP11-145B1<\/td>\n<\/tr>\n<tr>\n<td>24<\/td>\n<td>D5S2480<\/td>\n<td>WI7320<\/td>\n<td>5p15.2<\/td>\n<td>10.732<\/td>\n<td>&nbsp;<\/td>\n<td>DPA-941C2<\/td>\n<\/tr>\n<tr>\n<td>25<\/td>\n<td>D5S432<\/td>\n<td>AFM255xb9<\/td>\n<td>5p15.2<\/td>\n<td>10.746<\/td>\n<td>&nbsp;<\/td>\n<td>RP11-72C10<\/td>\n<\/tr>\n<tr>\n<td>26<\/td>\n<td>D5S117<\/td>\n<td>&nbsp;<\/td>\n<td>5p15.2<\/td>\n<td>11.360<\/td>\n<td>&nbsp;<\/td>\n<td>DPB-70G7<\/td>\n<\/tr>\n<tr>\n<td>27<\/td>\n<td>D5S2887<\/td>\n<td>AFMa240xf9<\/td>\n<td>5p15.2<\/td>\n<td>11.435<\/td>\n<td>25<\/td>\n<td>RP11-29N3<\/td>\n<\/tr>\n<tr>\n<td>28<\/td>\n<td>D5S478\n<p>&nbsp;<\/p>\n<p>f<\/p>\n<\/td>\n<td>AFM179xd10<\/td>\n<td>5p15.2<\/td>\n<td>11.035<\/td>\n<td>24<\/td>\n<td>CTC-305H11<\/td>\n<\/tr>\n<tr>\n<td>29<\/td>\n<td>D5S2081<\/td>\n<td>AFM347ta5<\/td>\n<td>5p15.2<\/td>\n<td>13.530<\/td>\n<td>26<\/td>\n<td>CTC-305H17<\/td>\n<\/tr>\n<tr>\n<td>30<\/td>\n<td>D5S1991<\/td>\n<td>AFMa282wa5<\/td>\n<td>5p15.2\/15.1<\/td>\n<td>14.929<\/td>\n<td>29<\/td>\n<td>RP11-5N8<\/td>\n<\/tr>\n<tr>\n<td>31<\/td>\n<td>D5S1989<\/td>\n<td>AFMa247wc1<\/td>\n<td>5p15.1<\/td>\n<td>15.679<\/td>\n<td>30<\/td>\n<td>RP11-135M13<\/td>\n<\/tr>\n<tr>\n<td>32<\/td>\n<td>D5S1954<\/td>\n<td>AFMA114xf9<\/td>\n<td>5p15.1<\/td>\n<td>15.872<\/td>\n<td>30<\/td>\n<td>RP11-261B20<\/td>\n<\/tr>\n<tr>\n<td>33<\/td>\n<td>D5S1963<\/td>\n<td>AFMA140vd1<\/td>\n<td>5p15.1<\/td>\n<td>16.684<\/td>\n<td>31<\/td>\n<td>RP11-269O14<\/td>\n<\/tr>\n<tr>\n<td>34<\/td>\n<td>D5S416<\/td>\n<td>AFM205wh10<\/td>\n<td>5p15.1<\/td>\n<td>16.723<\/td>\n<td>31<\/td>\n<td>RP11-260E18<\/td>\n<\/tr>\n<tr>\n<td>35<\/td>\n<td>D5S2114<\/td>\n<td>AFMa090yh5<\/td>\n<td>5p15.1<\/td>\n<td>16.949<\/td>\n<td>32<\/td>\n<td>CTB-28D11<\/td>\n<\/tr>\n<tr>\n<td>36<\/td>\n<td>D5S486<\/td>\n<td>AFM206zc1<\/td>\n<td>5p15.1<\/td>\n<td>17.224<\/td>\n<td>34<\/td>\n<td>CTB-33B3<\/td>\n<\/tr>\n<tr>\n<td>37<\/td>\n<td>D5S2096<\/td>\n<td>AFM105xg1<\/td>\n<td>5p15.1<\/td>\n<td>17.500<\/td>\n<td>35<\/td>\n<td>RP11-88L18<\/td>\n<\/tr>\n<tr>\n<td>38<\/td>\n<td>WI-4804<\/td>\n<td>&nbsp;<\/td>\n<td>5p15.1\/14.3<\/td>\n<td>18.336<\/td>\n<td>&nbsp;<\/td>\n<td>CTB-34B4<\/td>\n<\/tr>\n<tr>\n<td>39<\/td>\n<td>D5S2419<sup>g<\/sup><\/td>\n<td>WI-10830<\/td>\n<td>5p14.3<\/td>\n<td>20.837<\/td>\n<td>&nbsp;<\/td>\n<td>CTC-253L1<\/td>\n<\/tr>\n<tr>\n<td>40<\/td>\n<td>D5S411<\/td>\n<td>AFM193xe11<\/td>\n<td>5p14.3<\/td>\n<td>21.797<\/td>\n<td>39<\/td>\n<td>CTB-55P22<\/td>\n<\/tr>\n<tr>\n<td>41<\/td>\n<td>D5S1868<\/td>\n<td>WI-9400<\/td>\n<td>5p14.3\/14.2<\/td>\n<td>23.276<\/td>\n<td>&nbsp;<\/td>\n<td>CTB-115E13<\/td>\n<\/tr>\n<tr>\n<td>42<\/td>\n<td>D5S648<\/td>\n<td>AFM292yg5<\/td>\n<td>5p14.1<\/td>\n<td>25.841<\/td>\n<td>42<\/td>\n<td>CTB-100A5<\/td>\n<\/tr>\n<tr>\n<td>43<\/td>\n<td>D5S627<\/td>\n<td>AFM217ye1<\/td>\n<td>5p14.1<\/td>\n<td>26.794<\/td>\n<td>43<\/td>\n<td>CTC-296N5<\/td>\n<\/tr>\n<tr>\n<td>44<\/td>\n<td>D5S661\/D5s2061<\/td>\n<td>AFMC011xb1<\/td>\n<td>5p14\/13<\/td>\n<td>30.022<\/td>\n<td>44<\/td>\n<td>CTB-161H9<\/td>\n<\/tr>\n<tr>\n<td>45<\/td>\n<td>D5S477<sup>f<\/sup><\/td>\n<td>AFM177xb4<\/td>\n<td>5p13.3<\/td>\n<td>31.942<\/td>\n<td>49<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>46<\/td>\n<td>D5S1993<\/td>\n<td>AFMa286ya9<\/td>\n<td>5p13.3<\/td>\n<td>31.751<\/td>\n<td>48<\/td>\n<td>CTB-13O21<\/td>\n<\/tr>\n<tr>\n<td>47<\/td>\n<td>D5S1986<\/td>\n<td>AFMA238za9<\/td>\n<td>5p13.3<\/td>\n<td>31.776<\/td>\n<td>49<\/td>\n<td>RP11-5N11<\/td>\n<\/tr>\n<tr>\n<td>48<\/td>\n<td>D5S1996<\/td>\n<td>AFM297wa5<\/td>\n<td>5p13.3<\/td>\n<td>32.162<\/td>\n<td>51<\/td>\n<td>RP11-67P13<\/td>\n<\/tr>\n<tr>\n<td>49<\/td>\n<td>D5S651<\/td>\n<td>AFM302wd5<\/td>\n<td>5p13.3<\/td>\n<td>33.428<\/td>\n<td>51<\/td>\n<td>CTC-221E3<\/td>\n<\/tr>\n<tr>\n<td>50<\/td>\n<td>D5S2062<\/td>\n<td>AFM277yh9<\/td>\n<td>5p13.3<\/td>\n<td>33.806<\/td>\n<td>55<\/td>\n<td>RP11-94E6<\/td>\n<\/tr>\n<tr>\n<td>51<\/td>\n<td>D5S395<sup>f <\/sup><\/td>\n<td>AFM284vc1<\/td>\n<td>5p13.3<\/td>\n<td>30.726<\/td>\n<td>&nbsp;<\/td>\n<td>CTB-62F24<\/td>\n<\/tr>\n<tr>\n<td>52<\/td>\n<td>D5S1506<\/td>\n<td>GATA63c02<\/td>\n<td>5p13.3<\/td>\n<td>33.873<\/td>\n<td>&nbsp;<\/td>\n<td>CTB-38G24<\/td>\n<\/tr>\n<tr>\n<td>53<\/td>\n<td>D5S395<\/td>\n<td>AFM063yb6<\/td>\n<td>5p13.2<\/td>\n<td>35.843<\/td>\n<td>57<\/td>\n<td>RP11-85N3<\/td>\n<\/tr>\n<tr>\n<td>54<\/td>\n<td>D5S2025<\/td>\n<td>AFMb297za5<\/td>\n<td>5p13.2<\/td>\n<td>36.018<\/td>\n<td>57<\/td>\n<td>CTB-107L17<\/td>\n<\/tr>\n<tr>\n<td>55<\/td>\n<td>D5S1994<\/td>\n<td>AFMa286ze9<\/td>\n<td>5p13.2<\/td>\n<td>36.465<\/td>\n<td>56<\/td>\n<td>CTB-18O17<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p class=\"can_slide\">\u6a2a\u306b\u30b9\u30e9\u30a4\u30c9\u3067\u304d\u307e\u3059<\/p>\n<\/div>\n<aside>\n<ul>\n<li>\u6ce8\u8a18-\u672c\u8868\u306e\u96fb\u5b50\u7248(\u8868A2)\u306f\u3001\u4ed8\u9332A(\u30aa\u30f3\u30e9\u30a4\u30f3\u7248\u306e\u307f)\u306b\u53ce\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<li>a \u4f4d\u7f6e\u306f2003\u5e747\u6708\u306eUCSC\u30b7\u30fc\u30b1\u30f3\u30b9\u306b\u57fa\u3065\u304f\u3002<\/li>\n<li>b \u4f4d\u7f6e\u306f\u30d2\u30c8\u30b2\u30ce\u30e0\u306eSTS\u306b\u57fa\u3065\u304f\u5730\u56f3\u306b\u57fa\u3065\u304f(Hudson et al. 1995).<\/li>\n<li>c D5S676\u3068D5S1957\u306e\u9593\u306e\u88dc\u9593\u3002<\/li>\n<li>d D5S208\u3068D5S630\u306e\u9593\u306e\u88dc\u9593\u3002<\/li>\n<li>e D5S1850\u3068afm042xa11\u306e\u9593\u306e\u88dc\u9593\u3002<\/li>\n<li>f \u4f4d\u7f6e\u306f\u3001\u524a\u9664\u30c7\u30fc\u30bf\u306b\u3088\u308b\u9806\u5e8f\u306b\u57fa\u3065\u3044\u3066\u3044\u307e\u3059\u3002 \u3053\u306e\u9806\u5e8f\u306f\u30b2\u30ce\u30e0\u914d\u5217\u3068\u4e00\u81f4\u3057\u306a\u3044\u3002<\/li>\n<li>g \u6211\u3005\u306e\u30c7\u30fc\u30bf\u306f\u3001\u3053\u306e\u914d\u5217\u304c\u30b2\u30ce\u30e0\u5185\u3067\u91cd\u8907\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u308b\u30022003\u5e747\u6708\u306e\u51cd\u7d50\u3067\u306f\u91cd\u8907\u306f\u898b\u3089\u308c\u306a\u304b\u3063\u305f\u30022003\u5e744\u6708\u306e\u51cd\u7d50\u3067\u306f2\u756a\u76ee\u306e\u30b3\u30d4\u30fc\u304c34.070Mb\u306b\u3042\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u305f\u3002<\/li>\n<\/ul>\n<\/aside>\n<\/section>\n<section id=\"table_4\" class=\"note_table\">\n<h4>\u88684 \u8ffd\u52a0\u306e\u7570\u5e38<\/h4>\n<div class=\"table-sp-scroll\">\n<table>\n<thead>\n<tr>\n<th rowspan=\"2\">\u60a3\u8005<\/th>\n<th rowspan=\"2\">MR<br>\u30ec\u30d9\u30eb<\/th>\n<th rowspan=\"2\">\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u4f4d\u7f6e<\/th>\n<th rowspan=\"2\">\u30b3\u30d4\u30fc\u6570<\/th>\n<th colspan=\"2\">\u4e0a\u9650<\/th>\n<th colspan=\"2\">\u4e0b\u9650<\/th>\n<th rowspan=\"2\">\u5927\u304d\u3055<br>(Mb)<\/th>\n<th rowspan=\"2\">\u6539\u8a02\u6838\u578b<sup>a<\/sup><\/th>\n<\/tr>\n<tr>\n<th>\u4fdd\u6301\u30af\u30ed\u30fc\u30f3<sup>b<\/sup><\/th>\n<th>\u4f4d\u7f6e<br>(Mb)<sup>c<\/sup><\/th>\n<th>\u4fdd\u6301\u30af\u30ed\u30fc\u30f3<sup>b<\/sup><\/th>\n<th>\u4f4d\u7f6e<br>(Mb)<sup>c<\/sup><\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>16<\/td>\n<td>6.5<\/td>\n<td>8pter-21.3<\/td>\n<td>3<\/td>\n<td>pter<\/td>\n<td>0<\/td>\n<td>RP11-89M8<\/td>\n<td>22.745<\/td>\n<td>22.745<\/td>\n<td>46,XX,der(5)t(5;8)(p14.1;p21)<\/td>\n<\/tr>\n<tr>\n<td>24<\/td>\n<td>7<\/td>\n<td>13q32.2-ter<\/td>\n<td>3<\/td>\n<td>RP11-40H10<\/td>\n<td>93.26<\/td>\n<td>qter<\/td>\n<td>113.042<\/td>\n<td>19.782<\/td>\n<td>46,XX,der(5)t(5;13)(p14.1;q32.2)<\/td>\n<\/tr>\n<tr>\n<td>25<\/td>\n<td>7<\/td>\n<td>5q35.3-ter<\/td>\n<td>3<\/td>\n<td>RP11-125L2<\/td>\n<td>173.496<\/td>\n<td>qter<\/td>\n<td>181.034<\/td>\n<td>7.538<\/td>\n<td>46,XX,der(5)t(5;5)(p14.2;q35.3)mat<\/td>\n<\/tr>\n<tr>\n<td>35<\/td>\n<td>6.5<\/td>\n<td>14q11.2<\/td>\n<td>1<\/td>\n<td>RP11-152G22<\/td>\n<td>19.227<\/td>\n<td>RP11-68M15<\/td>\n<td>21.467<\/td>\n<td>2.24<\/td>\n<td>45,XY,der(5)t(5;14)(p14.2;q11.2), -14,mat<\/td>\n<\/tr>\n<tr>\n<td>45<\/td>\n<td>7<\/td>\n<td>6q25.2-6qter<\/td>\n<td>1<\/td>\n<td>GS-59B4<\/td>\n<td>152.455<\/td>\n<td>RP1-57H24<\/td>\n<td>170.695<\/td>\n<td>18.24<\/td>\n<td>46,XY,der(14)t(5;14)(q11;p13) del(5)(p15.1p15.2)del(6)(q25.2)<\/td>\n<\/tr>\n<tr>\n<td>48<\/td>\n<td>6.5<\/td>\n<td>5p15.11-5p14<\/td>\n<td>3<\/td>\n<td>RP11-261B20\/32<sup>d<\/sup><\/td>\n<td>15.872<\/td>\n<td>CTC-296N5\/43<\/td>\n<td>26.794<\/td>\n<td>10.922<\/td>\n<td>46,XY,del(5)(p14.3)dup(5)(p14.2p15.1)<\/td>\n<\/tr>\n<tr>\n<td>104<\/td>\n<td>6.5<\/td>\n<td>5p13.3<\/td>\n<td>4<\/td>\n<td>CTB-13O21\/46<\/td>\n<td>31.715<\/td>\n<td>RP11-67P13\/48<\/td>\n<td>32.162<\/td>\n<td>.447<\/td>\n<td>46,XY,del(5)(p13.3)dup(5)(\uff5ep13.3)<sup>e<\/sup>\u00d72<\/td>\n<\/tr>\n<tr>\n<td>201<\/td>\n<td>7<\/td>\n<td>5q35.1-ter<sup>f<\/sup><\/td>\n<td>3<\/td>\n<td>RP11-15F10<\/td>\n<td>169.122<\/td>\n<td>qter<\/td>\n<td>181.034<\/td>\n<td>11.912<\/td>\n<td>46,XY,der(5)t(5;5)(p14.3q35.1)<\/td>\n<\/tr>\n<tr>\n<td>206<\/td>\n<td>7<\/td>\n<td>20pter-12.2<\/td>\n<td>3<\/td>\n<td>pter<\/td>\n<td>0<\/td>\n<td>DuPontA-967A8<\/td>\n<td>10.282<\/td>\n<td>10.282<\/td>\n<td>46,XX,der(5)t(5;20)(p14.3;p12.2)pat<\/td>\n<\/tr>\n<tr>\n<td>210<\/td>\n<td>7<\/td>\n<td>1qter<\/td>\n<td>3<\/td>\n<td>RP11-194F13<\/td>\n<td>238.741<\/td>\n<td>qter<\/td>\n<td>246.127<\/td>\n<td>7.386<\/td>\n<td>46,XX,der(5)t(1;5)(q43;p14.1)pat<\/td>\n<\/tr>\n<tr>\n<td>215<\/td>\n<td>7<\/td>\n<td>4q31.1-ter<\/td>\n<td>3<\/td>\n<td>RP11-40D5<\/td>\n<td>135.249<\/td>\n<td>qter<\/td>\n<td>191.731<\/td>\n<td>56.482<\/td>\n<td>46,XX,der(5)t(4;5)( q31.1;p14.3)<\/td>\n<\/tr>\n<tr>\n<td>218<\/td>\n<td>6.5<\/td>\n<td>8pter-8p23.2<\/td>\n<td>3<\/td>\n<td>pter<\/td>\n<td>0<\/td>\n<td>RP11-112O08<\/td>\n<td>11<\/td>\n<td>11<\/td>\n<td>46,XX,der(5)t(5;8)(p14.3;p23.2)pat<\/td>\n<\/tr>\n<tr>\n<td>228<\/td>\n<td>6<\/td>\n<td>8q23.1-ter<\/td>\n<td>3<\/td>\n<td>CTD-2013D21<\/td>\n<td>110.377<\/td>\n<td>qter<\/td>\n<td>146.308<\/td>\n<td>35.931<\/td>\n<td>46,XY,der(5)t(5;8)(p15.2;q23.1)pat<\/td>\n<\/tr>\n<tr>\n<td>251<\/td>\n<td>6.5<\/td>\n<td>5p13.3<\/td>\n<td>3<\/td>\n<td>CTB-115E13\/41<\/td>\n<td>23.276<\/td>\n<td>RP11-94E6\/50<\/td>\n<td>33.806<\/td>\n<td>10.53<\/td>\n<td>46,XY,del(5)(p13.3)dup(5)(p13.3\uff5e14.1)<sup>e<\/sup><\/td>\n<\/tr>\n<tr>\n<td>255<\/td>\n<td>6.5<\/td>\n<td>1qter<\/td>\n<td>3<\/td>\n<td>RP11-210E16<sup>g<\/sup><\/td>\n<td>229.578<\/td>\n<td>&nbsp;<\/td>\n<td>&nbsp;<\/td>\n<td>&nbsp;<\/td>\n<td>46,XY,der(5)t(1;5)(q42\uff5e43;15.2)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p class=\"can_slide\">\u6a2a\u306b\u30b9\u30e9\u30a4\u30c9\u3067\u304d\u307e\u3059<\/p>\n<\/div>\n<aside>\n<ul>\n<li>\u6ce8:\u30c6\u30ed\u30e1\u30a2\u306b\u53ca\u3076\u3068\u601d\u308f\u308c\u308b\u7570\u5e38\u306f\u3001pter\u307e\u305f\u306fqter\u3068\u3057\u3066\u8868\u3055\u308c\u308b\u3002<\/li>\n<li>a \u6838\u578b\u306f\u914d\u5217\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u3066\u6539\u8a02\u3055\u308c\u308b\u3002 \u521d\u671f\u8a55\u4fa1\u3092<a href=\"#table_1\">\u88681<\/a>\u306b\u793a\u3059\u3002<\/li>\n<li>b \u53ce\u5dee\u306e\u4e0a(pter\u306b\u6700\u3082\u8fd1\u3044)\u307e\u305f\u306f\u4e0b(qter\u306b\u6700\u3082\u8fd1\u3044)\u306e\u5883\u754c\u306b\u3042\u308b\u30af\u30ed\u30fc\u30f3\u3067\u3001\u53ce\u5dee\u306b\u306f\u542b\u307e\u308c\u306a\u3044\u3002<\/li>\n<li>c Position\u306f2003\u5e747\u6708\u306eUCSC\u30b7\u30fc\u30b1\u30f3\u30b9\u306b\u57fa\u3065\u3044\u3066\u304a\u308a\u3001\u5c0f\u6570\u70b9\u4ee5\u4e0b\u306e\u4f4d\u7f6e\u3092\u63a8\u5b9a\u3057\u307e\u3059\u3002<\/li>\n<li>d \u88683\u306e\u30af\u30ed\u30fc\u30f3\u756a\u53f7\u3002<\/li>\n<li>e \u914d\u5217\u30c7\u30fc\u30bf\u3067\u5b9a\u7fa9\u3057\u307e\u3059\u3002<\/li>\n<li>f DNA\u306e\u8cea\u304c\u60aa\u3044\u305f\u3081\u3001\u30ce\u30a4\u30ba\u306e\u591a\u3044\u30c7\u30fc\u30bf\u304c\u3042\u308b\u3002 \u305d\u306e\u4ed6\u306e\u7570\u5e38\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308b\u3002<\/li>\n<li>g \u30b2\u30a4\u30f3\u306b\u306f\u3053\u306e\u30af\u30ed\u30fc\u30f3\u304c\u542b\u307e\u308c\u308b\u3002 \u5f97\u3089\u308c\u305f\u9818\u57df\u306e\u30b5\u30a4\u30ba\u3092\u63a8\u5b9a\u3059\u308b\u305f\u3081\u306e\u30a2\u30ec\u30a4\u4e0a\u306e\u30af\u30ed\u30fc\u30f3\u306f\u4e0d\u5341\u5206\u3067\u3042\u3063\u305f\u3002<\/li>\n<\/ul>\n<\/aside>\n<\/section>\n<section id=\"figure_2\" class=\"note_figure\">\n<h4>\u56f32<\/h4>\n<picture><source srcset=\"\/nipt\/wp-content\/uploads\/2020\/08\/neko_pict_f2.png.webp\" type=\"image\/webp\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2020\/08\/neko_pict_f2.png\" alt=\"\"> <\/picture>\n<p class=\"table_comment\">5p\u6b20\u5931\u306b\u5bfe\u3059\u308bMR\u30ec\u30d9\u30eb\u306e\u4f9d\u5b58\u6027\u3002 A\u3001\u9045\u5ef6\u8a55\u4fa1\u304c\u5165\u624b\u3067\u304d\u305f\u516891\u4f8b\u306e\u30c7\u30fc\u30bf\u3002 \u9ed2\u3044\u90e8\u5206\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u5834\u5408\u306b\u4fdd\u6301\u3055\u308c\u3066\u3044\u308b\u67d3\u8272\u4f53\u9818\u57df\u3092\u793a\u3057\u30015pter\u304b\u3089\u306e\u7269\u7406\u7684\u4f4d\u7f6e\u306b\u5bfe\u3057\u3066\u30d7\u30ed\u30c3\u30c8\u3057\u305f\u3002 \u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u306f\u30b0\u30e9\u30d5\u306e\u4e0b\u7aef\u306e\u3059\u3050\u4e0b\u306b\u3042\u308b\u3002 \u6b20\u5931\u306b\u5bfe\u3059\u308b\u9045\u5ef6\u30ec\u30d9\u30eb\u306e\u4f9d\u5b58\u6027\u306f\u660e\u767d\u3067\u3042\u308b\u304c\u3001\u4e00\u822c\u7684\u306a\u50be\u5411\u306b\u306f\u5c0f\u3055\u3059\u304e\u308b\u3088\u3046\u306b\u898b\u3048\u308b\u6b20\u5931\u3092\u4f34\u3046\u5834\u5408\u304c\u591a\u3044\u3002 MR\u30ec\u30d9\u30eb5\u306b\u3064\u3044\u3066\u306f\u3001\u5404\u30ec\u30d9\u30eb\u5185\u306e\u8fd1\u4f4d\u6b20\u5931\u5883\u754c\u306e\u9806\u306b\u30c7\u30fc\u30bf\u304c\u30d7\u30ed\u30c3\u30c8\u3055\u308c\u308b\u3002<br>\u3053\u308c\u3089\u306e\u91cd\u5ea6\u304b\u3064\u91cd\u5ea6\u306e\u7f79\u60a3\u60a3\u8005\u304b\u3089\u306e\u9045\u5ef6\u8868\u73fe\u578b\u306eMR\u30ec\u30d9\u30eb\u306e\u5272\u308a\u4ed8\u3051\u306b\u306f\u30010.5\uff5e1\u306e\u4e0d\u78ba\u5b9f\u6027\u304c\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002 5p\u306e\u6b20\u5931\u306e\u307f\u3092\u691c\u51fa\u3057\u305f\u60a3\u8005\u306b\u3064\u3044\u3066\u3082\u3001B\u3001\u540c\u3058\u30d7\u30ed\u30c3\u30c8\u3092\u7528\u3044\u305f\u3002 \u91cd\u5ea6\u306e\u969c\u5bb3\u3092\u3082\u3064\u60a3\u8005\u306e\u5927\u534a\u306f\u3001\u3055\u3089\u306b\u7570\u5e38\u304c\u3042\u308b\u305f\u3081\u3001\u3082\u306f\u3084\u5b58\u5728\u3057\u306a\u3044\u3053\u3068\u306b\u6ce8\u610f\u3002 5p\u6b20\u5931\u306b\u5bfe\u3059\u308b\u9045\u5ef6\u306e\u4f9d\u5b58\u6027\u306f\u306f\u308b\u304b\u306b\u4e00\u8cab\u3057\u3066\u3044\u308b\u3002 5p\u2010MRI\u3001MRII\u3001\u304a\u3088\u3073MRIII\u306e3\u3064\u306e\u9818\u57df\u304c\u3001\u9045\u5ef6\u306b\u5bfe\u3059\u308b\u5dee\u6b21\u7684\u52b9\u679c\u3092\u6709\u3059\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u308b\u3002 \u3053\u308c\u3089\u306e\u9818\u57df\u306b\u3064\u3044\u3066\u306f\u672c\u6587\u3067\u8aac\u660e\u3059\u308b\u3002<\/p>\n<\/section>\n<section id=\"figure_3\" class=\"note_figure\">\n<h4>\u56f33 Am. J. Hum. Genet. 76:312\u2013326, 2005<\/h4>\n<picture><source srcset=\"\/nipt\/wp-content\/uploads\/2020\/08\/neko_pict_f3.png.webp\" type=\"image\/webp\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2020\/08\/neko_pict_f3.png\" alt=\"\"> <\/picture>\u8868\u73fe\u578b\u306e\u6ce3\u304d\u3001\u9854\u306e\u5f62\u614b\u7570\u5e38\u3001\u304a\u3088\u3073\u8a00\u8a9e\u9045\u5ef6\u306e\u7279\u5fb4\u306b\u95a2\u4e0e\u3059\u308b5p\u306e\u9818\u57df\u3092\u7279\u5b9a\u3059\u308b\u60a3\u8005\u30c7\u30fc\u30bf\u306e\u8981\u7d04\u3002 \u9ed2\u3044\u90e8\u5206\u306f\u67d3\u8272\u4f53\u306e\u4fdd\u6301\u9818\u57df\u3092\u793a\u3059\u3002 \u5883\u754c\u306b\u6b8b\u3063\u305f\u30af\u30ed\u30fc\u30f3\u3092\u793a\u3059(<a href=\"#table_3\">\u88683<\/a>\u53c2\u7167)\u3002 \u300cY\u300d\u306f\u60a3\u8005\u306b\u8868\u73fe\u578b\u306e\u7279\u5fb4\u304c\u5b58\u5728\u3059\u308b\u3053\u3068\u3092\u793a\u3057\u3001\u300cN\u300d\u306f\u305d\u308c\u304c\u5b58\u5728\u3057\u306a\u3044\u3053\u3068\u3092\u793a\u3059\u3002<br>\u9ed2\u3044\u56db\u89d2\u306f\u3001\u305d\u306e\u60a3\u8005\u306b\u95a2\u9023\u3059\u308b\u60c5\u5831\u304c\u5165\u624b\u3067\u304d\u306a\u304b\u3063\u305f\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u308b\u3002 \u4e38\u5370\u306f\u3001\u305d\u306e\u7279\u5fb4\u306e\u539f\u56e0\u3068\u306a\u308b\u67d3\u8272\u4f53\u90e8\u5206\u306e\u4f4d\u7f6e\u306b\u95a2\u3057\u3066\u6700\u3082\u6709\u76ca\u306a\u60c5\u5831\u3092\u63d0\u4f9b\u3059\u308b\u60a3\u8005\u3092\u793a\u3059\u3002 \u60a3\u8005252\u306e\u7db2\u639b\u3051\u3055\u308c\u305f\u300cN\u300d\u306f\u3001\u3053\u306e\u60a3\u8005\u306e\u6b20\u5931\u304c\u3001\u305d\u3046\u3067\u306a\u3044\u3053\u3068\u306b\u3088\u3063\u3066\u8868\u73fe\u578b\u3092\u751f\u3058\u3055\u305b\u305f\u306f\u305a\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3059\u3002\n<p>&nbsp;<\/p>\n<\/section>\n<section id=\"figure_4\" class=\"note_figure\">\n<h4>\u56f34 Zhang et al.: Cri du Chat Genotype-Phenotype<\/h4>\n<picture><source srcset=\"\/nipt\/wp-content\/uploads\/2020\/08\/neko_pict_f4.png.webp\" type=\"image\/webp\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2020\/08\/neko_pict_f4.png\" alt=\"\"> <\/picture>\u8457\u8005\u3089\u306e\u30c7\u30fc\u30bf\u304a\u3088\u3073\u904e\u53bb\u306e\u6587\u732e\u306e\u30c7\u30fc\u30bf\u304b\u3089\u306e\u907a\u4f1d\u5b50\u578b-\u8868\u73fe\u578b\u95a2\u4fc2\u306e\u8981\u7d04\u3002 \u67d3\u8272\u4f53\u30d0\u30f3\u30c9\u306f\u30012003\u5e747\u6708\u306e\u30d2\u30c8\u30b2\u30ce\u30e0\u914d\u5217\u306e\u51cd\u7d50\u304b\u3089\u5f97\u3089\u308c\u305f\u7269\u7406\u5730\u56f3\u3068\u6bd4\u8f03\u3057\u3066\u793a\u3055\u308c\u3066\u3044\u308b\u3002\n<p>&nbsp;<\/p>\n<\/section>\n<section class=\"acknowledgments\">\n<h4>\u8b1d\u8f9e<\/h4>\n<p>\u672c\u7814\u7a76\u306f\u3001\u7c73\u56fd\u56fd\u7acb\u5c0f\u5150\u4fdd\u5065\u30fb\u4eba\u9593\u958b\u767a\u7814\u7a76\u6240\u306e\u52a9\u6210\u91d1HD 17665\u3001\u682a\u5f0f\u4f1a\u793e\u30f4\u30a1\u30a4\u30b7\u30b9\u3001\u30c7\u30f3\u30de\u30fc\u30afSTF\u6bd4\u8f03\u30b2\u30ce\u30e0\u30d7\u30ed\u30b0\u30e9\u30e0\u3001\u30c7\u30f3\u30de\u30fc\u30af\u57fa\u790e\u7814\u7a76\u57fa\u91d1\u306e\u7d71\u5408\u7684\u751f\u7269\u5b66\u30d7\u30e9\u30c3\u30c8\u30d5\u30a9\u30fc\u30e0\u3001\u4e2d\u56fd\u56fd\u7acb\u81ea\u7136\u79d1\u5b66\u8ca1\u56e3\u306e\u652f\u63f4\u3092\u53d7\u3051\u305f\u3002<\/p>\n<\/section>\n<section class=\"electronic-database_information\">\n<h4>\u96fb\u5b50\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u60c5\u5831<\/h4>\n<ul>\n<li>\u3053\u3053\u306b\u63b2\u8f09\u3055\u308c\u3066\u3044\u308b\u30c7\u30fc\u30bf\u306eURL\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3002\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u907a\u4f1d(OMIM)\u3001http:\/\/www.ncbi.nlm.nih.gov\/Omim\/ (\u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u7528)\u3001UCSC \u30b2\u30ce\u30e0\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\u3001http:\/\/genome.cse.ucsc.edu\/ \u53c2\u8003\u6587\u732eAlbertson DG\u3001Pinkel D(2003)\u30d2\u30c8\u907a\u4f1d\u75c5\u304a\u3088\u3073\u304c\u3093\u306b\u304a\u3051\u308b\u30b2\u30ce\u30e0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3002<\/li>\n<\/ul>\n<\/section>\n<section class=\"references\">\n<h4>\u53c2\u8003\u6587\u732e<\/h4>\n<ul>\n<li>Hum Mol Genet 12(Spec 2):R145-152 Albertson DG\u3001Ylstra B\u3001Segraves R\u3001Collins C\u3001Darkee SH\u3001Kowbel D\u3001Kuo WL\u3001Gray JW\u3001Pinkel D(2000)\u30a2\u30ec\u30a4CGH\u306b\u3088\u308b\u30a2\u30f3\u30d7\u30ea\u30b3\u30f3\u69cb\u9020\u306e\u5b9a\u91cf\u7684\u30de\u30c3\u30d4\u30f3\u30b0\u306b\u3088\u308a\u3001CYP24\u304c\u5019\u88dc\u304c\u3093\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u305f\u3002<\/li>\n<li>Nat Genet 25:144-146 Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E (1995) \u7570\u306a\u308b\u8868\u73fe\u578b\u306e\u7279\u5fb4\u3092\u3082\u305f\u3089\u3059\u9060\u4f4d5p\u306e\u7570\u306a\u308b\u30bb\u30b0\u30e1\u30f3\u30c8\u306e\u6b20\u5931\u306e\u5206\u5b50\u7684\u5b9a\u7fa9\u3002<\/li>\n<li>Am J Hum Genet 56:1162-1172 Church DM, Yang J, Bocian M, Shiang R, Wasmuth JJ (1997) \u30d2\u30c8\u67d3\u8272\u4f535p\u306e\u306d\u3053\u306a\u304d\u9818\u57df\u306e\u9ad8\u89e3\u50cf\u5ea6\u7269\u7406\u304a\u3088\u3073\u8ee2\u5199\u30de\u30c3\u30d7\u3002<\/li>\n<li>Genome Res 7:787-801 Eichler EE (2001) \u6700\u8fd1\u306e\u91cd\u8907\u3001\u30c9\u30e1\u30a4\u30f3\u306e\u4ed8\u52a0\u3001\u304a\u3088\u3073\u30d2\u30c8\u30b2\u30ce\u30e0\u306e\u52d5\u7684\u7a81\u7136\u5909\u7570\u3002<\/li>\n<li>Trends Genet 17: 661-669 Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, Scott CE, Smith J, Vetrie D, Gorman P, Tomlinson IP, Carter NP(2003) DNA<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3092\u7528\u3044\u3066\u3001BAC\u304a\u3088\u3073PAC\u30af\u30ed\u30fc\u30f3\u306eDOP-PCR\u5897\u5e45\u306b\u57fa\u3065\u304f\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u3092\u884c\u3063\u305f\u3002<\/li>\n<li>Genes Chromosomes Cancer 36:361-374 Gersh M\u3001Goodart SA\u3001Pasztor LM\u3001Harris DJ\u3001Weiss L\u3001Overhauser J (1995) 5p\u6b20\u5931\u3092\u6709\u3059\u308b\u60a3\u8005\u306b\u304a\u3044\u3066\u732b\u306e\u3088\u3046\u306a\u9cf4\u304d\u58f0\u3092\u5f15\u304d\u8d77\u3053\u3059\u7570\u306a\u308b\u9818\u57df\u306b\u95a2\u3059\u308b\u8a3c\u62e0\u3002<\/li>\n<li>Am J Hum Genet 56: 1404-1410 Gersh M, Grady D, Rojas K, Lovett M, Moyzis R, Overhauser J (1997) \u9593\u671fFISH\u3092\u7528\u3044\u305f5p\u6b20\u5931\u306e\u5206\u6790\u306e\u305f\u3081\u306e\u8a3a\u65ad\u30c4\u30fc\u30eb\u306e\u958b\u767a<\/li>\n<li>Cytogenet Cell Genet 77: 246-251 Hand JL, Michels VV, Marinello MJ, Ketterling RP, Jalal SM (2000) \u67d3\u8272\u4f535p\u304a\u3088\u307316q\u306e\u9593\u8cea\u6027\u6b20\u5931\u304c\u660e\u3089\u304b\u306a\u8868\u73fe\u578b\u52b9\u679c\u306a\u3057\u306b\u907a\u4f1d\u3057\u305f: furth \u78ba\u8a8d\u3002<\/li>\n<li>Prenat Diagn 20:144-148 Hudson TJ\u3001Stein <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">LD<\/a>\u3001Gerety SS\u3001Ma J\u3001Castle AB\u3001 Silva J\u3001 Silva J\u3001 Slonim DK\u3001Baptista R\u3001Kruglyak L\u3001Xu S-H\u3001Hu X\u3001Colbert AME\u3001Rosenberg C\u3001Reeve-Daly MP\u3001Rozen S\u3001Hui L\u3001Wu X\u3001Vestergaard C\u3001Wilson KM\u3001Bae JS\u3001Maitra S\u3001Ganiatsas S\u3001Evans CA\u3001DeAngelis MM\u3001Ingals KA(1995) \u30d2\u30c8\u30b2\u30ce\u30e0\u306eSTS\u30d9\u30fc\u30b9\u5730\u56f3\u3002<\/li>\n<li>Science 270:1945-1954 Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C (2004) \u30d2\u30c8\u30b2\u30ce\u30e0\u306b\u304a\u3051\u308b\u5927\u898f\u6a21\u5909\u7570\u306e\u691c\u51fa<\/li>\n<li>Nat Genet 36:949-951 Jain AN, Tokuyasu TA, Snijders AM, Segraves R, Albertson DG, Pinkel D (2002) <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u753b\u50cf\u30c7\u30fc\u30bf\u306e\u5b8c\u5168\u81ea\u52d5\u5b9a\u91cf\u5316<\/li>\n<li>Genome Res 12:325-332 Johnson EI, Marinescu RC, Punnett HH, Tenenholz B, Overhauser J (2000) 5p14\u6b20\u5931\u306f\u5c0f\u982d\u75c7\u304a\u3088\u3073\u767a\u4f5c\u306b\u95a2\u9023\u3057\u3066\u3044\u305f\u3002<\/li>\n<li>J Med Genet 37:125-127 Kjaer I, Niebuhr E (1999) \u306d\u3053\u306a\u304d\u75c7\u5019\u7fa4\u60a3\u800523\u4f8b\u306b\u304a\u3051\u308b\u982d\u84cb\u5e95\u306e\u7814\u7a76\u306f\u3001\u3053\u306e\u72b6\u614b\u306b\u95a2\u4e0e\u3059\u308b\u982d\u84cb\u767a\u9054\u5834\u3092\u793a\u5506\u3057\u3066\u3044\u308b\u3002<\/li>\n<li>Am J Med Genet 82:6-14 Levy B, Dunn TM, Kern JH, Hirschhorn K, Kardon NB (2002) dup5q\/del 5p(cri du 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