{"id":45739,"date":"2020-07-21T11:26:55","date_gmt":"2020-07-21T02:26:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/"},"modified":"2024-03-12T16:10:01","modified_gmt":"2024-03-12T07:10:01","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\/?lang=zh-hans","title":{"rendered":"NIPT\u8bba\u6587 (\u732b\u53eb\u7efc\u5408\u75c7\u7684\u9ad8\u5206\u8fa8\u7387\u6620\u5c04)"},"content":{"rendered":"\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 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 class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 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>\u4f7f\u7528\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6df7\u5408\u7ffb\u8bd1\u732b\u53eb\u7efc\u5408\u75c7\u4e2d\u57fa\u56e0\u578b-\u8868\u578b\u5173\u7cfb\u7684\u9ad8\u5206\u8fa8\u7387\u6620\u5c04\u8bba\u6587 (Hiro\u8bca\u6240NIPT\u521d\u6b65\u7ffb\u8bd1)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\/#%E7%AE%80%E4%BB%8B\" >\u7b80\u4ecb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\/#%E6%96%B9%E6%B3%95\" >\u65b9\u6cd5<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a 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>MR\u5bf9\u7f3a\u5931\u7684\u4f9d\u8d56\u6027<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\/#%E5%BD%B1%E5%93%8D%E5%93%AD%E5%A3%B0%EF%BC%8C%E5%A3%B0%E9%9F%B3%E5%BB%B6%E8%BF%9F%E5%92%8C%E9%9D%A2%E9%83%A8%E5%BD%A2%E6%80%81%E5%BC%82%E5%B8%B8%E7%9A%84%E6%9F%93%E8%89%B2%E4%BD%93%E5%8C%BA%E5%9F%9F\" >\u5f71\u54cd\u54ed\u58f0\uff0c\u58f0\u97f3\u5ef6\u8fdf\u548c\u9762\u90e8\u5f62\u6001\u5f02\u5e38\u7684\u67d3\u8272\u4f53\u533a\u57df<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\/#%E8%80%83%E5%AF%9F\" >\u8003\u5bdf<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\/#%E8%A1%A82_MR%E5%88%86%E7%B1%BB\" >\u88682 MR\u5206\u7c7b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\/#%E8%A1%A83_5p%E5%88%86%E6%9E%90%E9%98%B5%E5%88%97%E5%85%8B%E9%9A%86%E4%BD%93\" >\u88683 5p\u5206\u6790\u9635\u5217\u514b\u9686\u4f53<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\/#%E8%A1%A84_%E9%A2%9D%E5%A4%96%E5%BC%82%E5%B8%B8\" >\u88684 \u989d\u5916\u5f02\u5e38<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\/#%E5%9B%BE2\" >\u56fe2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\/#%E5%9B%BE3_Am_J_Hum_Genet_76_312%E2%80%93326_2005\" >\u56fe3 Am. J. Hum. Genet. 76:312\u2013326, 2005<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\/#%E5%9B%BE4_Zhang_et_al_Cri_du_Chat_Genotype-Phenotype\" >\u56fe4 Zhang et al.: Cri du Chat Genotype-Phenotype<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\/#%E6%84%9F%E8%B0%A2\" >\u611f\u8c22<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\/#%E7%94%B5%E5%AD%90%E6%95%B0%E6%8D%AE%E5%BA%93%E4%BF%A1%E6%81%AF\" >\u7535\u5b50\u6570\u636e\u5e93\u4fe1\u606f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\/#%E5%87%BA%E7%89%88%E5%95%86%E6%B3%A8%E9%87%8A\" >\u51fa\u7248\u5546\u6ce8\u91ca<\/a><\/li><\/ul><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%E4%BD%BF%E7%94%A8%E9%98%B5%E5%88%97%E6%AF%94%E8%BE%83%E5%9F%BA%E5%9B%A0%E7%BB%84%E6%B7%B7%E5%90%88%E7%BF%BB%E8%AF%91%E7%8C%AB%E5%8F%AB%E7%BB%BC%E5%90%88%E7%97%87%E4%B8%AD%E5%9F%BA%E5%9B%A0%E5%9E%8B-%E8%A1%A8%E5%9E%8B%E5%85%B3%E7%B3%BB%E7%9A%84%E9%AB%98%E5%88%86%E8%BE%A8%E7%8E%87%E6%98%A0%E5%B0%84%E8%AE%BA%E6%96%87_Hiro%E8%AF%8A%E6%89%80NIPT%E5%88%9D%E6%AD%A5%E7%BF%BB%E8%AF%91\"><\/span>\u4f7f\u7528\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6df7\u5408\u7ffb\u8bd1\u732b\u53eb\u7efc\u5408\u75c7\u4e2d\u57fa\u56e0\u578b-\u8868\u578b\u5173\u7cfb\u7684\u9ad8\u5206\u8fa8\u7387\u6620\u5c04\u8bba\u6587 (Hiro\u8bca\u6240NIPT\u521d\u6b65\u7ffb\u8bd1)<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> \u52a0\u5229\u798f\u5c3c\u4e9a\u5927\u5b66\u65e7\u91d1\u5c71\u5206\u6821\u7efc\u5408\u764c\u75c7\u4e2d\u5fc3\u00b7\u5b9e\u9a8c\u5ba4\u533b\u5b66\u7cfb\u3001<sup>2<\/sup> \u52a0\u5229\u798f\u5c3c\u4e9a\u5927\u5b66\u65e7\u91d1\u5c71\u5206\u6821\u764c\u75c7\u7814\u7a76\u6240\u3001<sup>3<\/sup> \u5965\u80e1\u65af\u5927\u5b66\u4eba\u7c7b\u9057\u4f20\u5b66\u7814\u7a76\u6240 (\u4e39\u9ea6\u5965\u80e1\u65af)\u3001<sup>4<\/sup> \u54e5\u672c\u54c8\u6839\u5927\u5b66\u533b\u5b66\u751f\u7269\u5316\u5b66\u548c\u9057\u4f20\u5b66\u7814\u7a76\u6240 (\u54e5\u672c\u54c8\u6839)\u3001<sup>5<\/sup> \u5317\u4eac\u5e02\u4e2d\u56fd\u79d1\u5b66\u9662\u5317\u4eac\u57fa\u56e0\u7ec4\u7814\u7a76\u6240<\/p>\n<\/div>\n\n\n\n<section id=\"discription\">\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\u7528\u4e8e\u7ed8\u523694\u4e2a\u732b\u53eb\u7efc\u5408\u75c7\u60a3\u8005\u7684DNA\u62f7\u8d1d\u6570\u7684\u53d8\u5316\uff0c\u5176\u4e2d\u4ed4\u7ec6\u8bc4\u4f30\u4e86\u7279\u5f81\u6027\u54ed\u58f0\u3001\u8bed\u97f3\u5ef6\u8fdf\u3001\u9762\u90e8\u7578\u5f62\u548c\u7cbe\u795e\u53d1\u80b2\u8fdf\u6ede (MR) \u6c34\u5e73\u7684\u5b58\u5728\u3002\u5927\u591a\u6570\u53d7\u8bd5\u8005\u5177\u67095p\u7684\u5355\u4e00\u7f3a\u5931 (\u672b\u7aef67\u4f8b,\u95f4\u8d2812\u4f8b) \u3002\u57fa\u56e0\u578b-\u8868\u578b\u76f8\u5173\u6027\u5c40\u9650\u4e8e\u4e0e\u8fdc\u7aef5p15.31\u7684\u7279\u5f81\u6027\u54ed\u58f0\u76f8\u5173\u7684\u533a\u57df\uff0c\u5305\u542bD5S2054\u548cD5S676\u6807\u8bb0\u7684\u7ec6\u83cc\u4eba\u5de5\u67d3\u8272\u4f53 (BAC<sub>s<\/sub>) \uff0c 5p15.32~15.33\u7684\u58f0\u97f3\u5ef6\u8fdf3.2Mb,\u5305\u542bD5S417\u548cD5S635\u7684BAC<sub>s<\/sub>,\u548c\u5305\u542bD5S208\u548cD5S 2887\u7684BAC<sub>s<\/sub>\u4e4b\u95f4\u76845p15.2~15.31\u76842.4Mb\u7684\u9762\u90e8\u8f6e\u5ed3\u76f8\u5173\u7684\u533a\u57df\u3002\u8fd9\u4e9b\u7ed3\u679c\u76f8\u4e92\u91cd\u53e0\uff0c\u5e76\u6539\u8fdb\u4e86\u5148\u524d\u51fa\u7248\u7269\u4e2d\u62a5\u9053\u7684\u5185\u5bb9\u3002\u8fd9\u4e9b\u7ed3\u679c\u76f8\u4e92\u91cd\u53e0\uff0c\u5e76\u6539\u8fdb\u4e86\u5148\u524d\u51fa\u7248\u7269\u4e2d\u62a5\u9053\u7684\u5185\u5bb9\u3002 MR\u51e0\u4e4e\u53d6\u51b3\u4e8e5p\u7f3a\u5931\u7684\u5927\u5c0f\u548c\u4f4d\u7f6e\uff0c\u4f46\u8003\u8651\u52305p\u7f3a\u5931\uff0c\u5ef6\u8fdf\u4e0d\u6210\u6bd4\u4f8b\u5730\u4e25\u91cd\u7684\u75c5\u4f8b\u5f88\u591a\u3002\u6240\u6709\u8fd915\u4f8b (\u5927\u7ea62\/3\u7684\u4e25\u91cd\u5ef6\u8fdf\u60a3\u8005) \u53d1\u73b0\u9664\u4e865p\u7f3a\u5931\u4e4b\u5916\u8fd8\u6709\u590d\u5236\u8ba1\u6570\u5f02\u5e38\u3002\u5bf9\u4ec5\u67095p\u7f3a\u5931\u7684\u60a3\u8005\u7684\u68c0\u67e5\u9650\u5236\u63ed\u793a\u4e86\u8fd9\u79cd\u7f3a\u5931\u7684\u5f71\u54cd\uff0c\u5e76\u8868\u660e\u5b58\u5728\u4e09\u4e2a\u5bf9\u5ef6\u8fdf\u5177\u6709\u4e0d\u540c\u5f71\u54cd\u7684\u533a\u57df\uff0c\u5373MRI\u2010III\u3002\u5305\u62ecMRI\u7684\u7f3a\u5931\uff0c\u4e0e\u5148\u524d\u5b9a\u4e49\u7684\u5173\u952e\u5feb\u901f\u4e34\u754c\u533a\u57df\u91cd\u53e0\u76841.2 Mb\u533a\u57df\uff0c\u4e0d\u5305\u62ecMRII\u548cMRIII,\u4f46\u4ea7\u751f\u4e2d\u7b49\u5ef6\u8fdf\u6c34\u5e73\u3002\u4ec5\u9650\u4e8e\u4f4d\u4e8eMRI\u8fd1\u7aef\u7684MRII\u7684\u7f3a\u5931\u5bfc\u81f4\u8f83\u8f7b\u5fae\u7684\u5ef6\u8fdf\uff0c\u800c\u4ec5\u9650\u4e8e\u8f83\u8fd1\u7aef\u7684MRIII\u7684\u7f3a\u5931\u4e0d\u4ea7\u751f\u53ef\u8bc6\u522b\u7684\u8868\u578b\u3002\u7136\u800c\uff0c\u968f\u7740\u5305\u62ecMRI\u5728\u5185\u7684\u7f3a\u5931\u9010\u6e10\u6269\u6563\u5230MRIIIMRII\u548cMRIII, MR\u589e\u52a0\uff0c\u5f533\u4e2a\u533a\u57df\u5168\u90e8\u7f3a\u5931\u65f6\uff0c MR\u53d8\u5f97\u660e\u663e\u3002\n<p>&nbsp;<\/p>\n<\/section>\n\n\n\n<section id=\"introduction\">\n<h2><span class=\"ez-toc-section\" id=\"%E7%AE%80%E4%BB%8B\"><\/span>\u7b80\u4ecb<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>\u67d3\u8272\u4f535p\u7684\u7f3a\u5931\u5bfc\u81f4\u5404\u79cd\u53d1\u80b2\u7f3a\u9677\uff0c\u5927\u591a\u6570\u75c5\u4f8b\u88ab\u5f52\u7c7b\u4e3a\u732b\u53eb\u7efc\u5408\u75c7 (MIM123450) (Niebuhr 1978a) \u3002\u8fd9\u4e9b\u7f3a\u5931\u662f\u672b\u7aef\u7684\u6216\u95f4\u8d28\u7684\uff0c\u6709\u65f6\u4e0e\u7ec6\u80de\u9057\u4f20\u5b66\u4e0a\u590d\u6742\u7684\u6838\u578b\u6709\u5173(Sreekantaiah et al.1999).\u732b\u53eb\u7efc\u5408\u75c7\u5177\u6709\u51e0\u79cd\u8868\u578b\u5143\u4ef6\uff0c\u4f8b\u5982\u7279\u5f81\u6027\u7684\u54ed\u58f0\uff0c\u9762\u90e8\u5f02\u5e38\uff0c\u58f0\u97f3\u5ef6\u8fdf\uff0c\u7cbe\u795e\u53d1\u80b2\u8fdf\u6ede (MR) \uff0c\u4ece\u800c\u7ed9\u51fa\u8be5\u7efc\u5408\u75c7\u7684\u540d\u79f0\u3002<br>\u4e00\u4e9b\u5148\u524d\u7684\u7814\u7a76\u663e\u793a5p\u4e0a\u7f3a\u5931\u7247\u6bb5\u7684\u8303\u56f4\u4e0e\u8868\u578b\u4e4b\u95f4\u7684\u5173\u7cfb (Overhauser\u7b491994;Church\u7b491997;Marinescu\u7b491999a;Mainardi\u7b492001) \u3002\u7136\u800c\uff0c\u8fd9\u4e9b\u7814\u7a76\u5bfc\u81f4\u5173\u4e8eMR\u4e0e\u5df2\u5220\u9664\u533a\u57df\u7684\u5173\u7cfb\u7684\u4e00\u4e9b\u4e0d\u4e00\u81f4\u7684\u7ed3\u679c\u548c\u5b58\u5728\u7269\u8d28\u4e89\u8bae\u3002\u4e0d\u540c\u7684\u7ed3\u679c\u5f88\u53ef\u80fd\u662f\u7531\u4e8e\u591a\u79cd\u56e0\u7d20\u7684\u7ec4\u5408\u9020\u6210\u7684\uff0c\u8fd9\u4e9b\u56e0\u7d20\u5305\u62ec\u591a\u4e2a\u89c2\u5bdf\u8005\u5bf9\u8868\u578b\u7684\u4e0d\u4e00\u81f4\u8bc4\u4f30\u3001\u7f3a\u4e4f\u5bf9\u67d0\u4e9b\u8868\u578b\u7279\u5f81\u7684\u663e\u6027\u7684\u5e74\u9f84\u4f9d\u8d56\u6027\u7684\u8003\u8651\u3001\u4ee5\u53ca\u7528\u4e8e\u8bc4\u4f30\u57fa\u56e0\u578b\u7684\u5206\u6790\u6280\u672f\u7684\u9650\u5236(Wilkinset al.1983;Church et al.1995;Marinescu et al.1999 a;Johnson et al.2000)\u3002\u5728\u8fd9\u9879\u7814\u7a76\u4e2d\uff0c\u6240\u6709\u8fd9\u4e9b\u6f5c\u5728\u95ee\u9898\u90fd\u88ab\u6db5\u76d6\u3002\n<\/p>\n<p>\u5728\u5148\u524d\u7684\u57fa\u56e0\u578b\u5206\u6790\u4e2d\uff0c\u5df2\u7ecf\u4f7f\u7528\u5e38\u89c4\u7ec6\u80de\u9057\u4f20\u5b66\u3001FISH\u3001\u591a\u6001\u6027\u6807\u8bb0\u548c\u6700\u8fd1\u57fa\u4e8e\u67d3\u8272\u4f53\u7684\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4 (CGH) \u3002(Marinescu et al.1999 b;Levy et al.2002)\u68c0\u6d4b\u5e76\u5b9a\u4e49\u5f02\u5e38\u7684\u6027\u8d28\u3002<br>\u4f20\u7edf\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u63d0\u4f9b\u4e86\u5168\u57fa\u56e0\u7ec4\u7684\u6982\u8ff0\uff0c\u4f46\u5206\u8fa8\u7387\u6709\u9650\u3002\u56e0\u6b64\uff0c\u50cf\u5dee\u7684\u8fb9\u754c\u8bbe\u7f6e\u4e0d\u6b63\u786e\uff0c\u5c0f\u7684\u7f3a\u5931\u88ab\u5ffd\u7565\uff0c\u590d\u6742\u7684\u5f02\u5e38\u88ab\u4e0d\u9002\u5f53\u5730\u8bc6\u522b\u3002\u5c3d\u7ba1FISH\u548c\u591a\u6001\u6027\u6807\u8bb0\u7269\u5141\u8bb8\u5bf9\u57fa\u56e0\u7ec4\u5e8f\u5217\u7684\u5f02\u5e38\u7684\u7cbe\u786e\u8bc4\u4f30\u548c\u5f02\u5e38\u7684\u6620\u5c04\uff0c\u4f46\u662f\u7531\u4e8e\u63a2\u9488\u5fc5\u987b\u5355\u72ec\u6216\u4ee5\u5c11\u6570\u7ec4\u8fdb\u884c\u8bc4\u4f30\uff0c\u56e0\u6b64\u9700\u8981\u5927\u91cf\u7684\u7cbe\u529b\u3002\u56e0\u6b64\uff0c\u5bf9\u591a\u4e2a\u57fa\u56e0\u5ea7\u548c\u6837\u54c1\u7684\u7814\u7a76\u662f\u975e\u5e38\u8d39\u529b\u7684\u3002\u67d3\u8272\u4f53CGH\u53ef\u4ee5\u5728\u5355\u4e2a\u6742\u4ea4\u4e2d\u7b5b\u9009DNA\u62f7\u8d1d\u6570\u53d8\u5316\u7684\u6574\u4e2a\u57fa\u56e0\u7ec4\uff0c\u4f46\u5176\u5206\u8fa8\u7387\u9650\u5236\u4e3a\u7ea65~10 Mb,\u5e76\u4e14\u7ed3\u679c\u4e0d\u80fd\u76f4\u63a5\u6620\u5c04\u5230\u57fa\u56e0\u7ec4\u5e8f\u5217\u4e0a\u3002<\/p>\n<p>\u6700\u8fd1\uff0c\u7b14\u8005\u5f00\u53d1\u4e86\u4e00\u79cd\u5b9e\u65bd\u5fae\u9635\u5217CGH\u7684\u65b9\u6cd5 (Solinas-Toldoet al.1997;Pinkel et al.1998;Pollack et al.1999;Snijders et al.2001;Fiegler et al.2003) \u3002\u672c\u9635\u5217\u4f7f\u7528\u7531\u5927\u63d2\u5165\u57fa\u56e0\u7ec4\u590d\u5236 (\u4f8b\u5982BACS\u6216PACS) \u4ea7\u751f\u7684\u9635\u5217\u5143\u4ef6,\u5e76\u4e14\u5177\u6709\u8db3\u591f\u7684\u6d4b\u91cf\u7cbe\u5ea6\u4ee5\u5141\u8bb8\u5bf9\u5f71\u54cd\u5355\u4e2a\u514b\u9686\u4f53\u7684\u5355\u4e2a\u590d\u5236\u5f02\u5e38\u7684\u53ef\u9760\u68c0\u6d4b\u3002\u4f7f\u7528\u8bf8\u5982STS\u6216\u672b\u7aef\u5e8f\u5217\u7684\u5e8f\u5217\u6807\u7b7e\u6765\u786e\u5b9a\u57fa\u56e0\u7ec4\u5e8f\u5217\u4e0a\u6bcf\u4e2a\u514b\u9686\u4f53\u7684\u4f4d\u7f6e\u3002\u901a\u8fc7\u8fd9\u79cd\u9635\u5217\u83b7\u5f97\u7684\u5206\u8fa8\u7387\u7531\u514b\u9686\u4f53\u4e4b\u95f4\u7684\u57fa\u56e0\u7ec4\u95f4\u9694\u548c\u514b\u9686\u4f53\u957f\u5ea6\u786e\u5b9a\u3002\u901a\u8fc7\u4f7f\u7528\u91cd\u590d\u590d\u5236 (Albertson et al.2000) ,\u53ef\u4ee5\u83b7\u5f97BAC\u957f\u5ea6\u7684\u4e00\u4e9b\u5206\u8fa8\u7387\u3002<\/p>\n<p>\u5728\u8be5\u7814\u7a76\u4e2d\uff0c\u4f7f\u7528\u5e38\u89c4\u7ec6\u80de\u9057\u4f20\u5b66\u548cFISH\u5c06\u9635\u5217CGH\u5e94\u7528\u4e8e\u5206\u6790\u786e\u5b9a\u5177\u67095p\u7f3a\u5931\u768494\u540d\u60a3\u8005\u7684\u57fa\u56e0\u7ec4DNA\u3002\u5728\u6211\u4eec\u8fdb\u884c\u5206\u6790\u4e4b\u524d\uff0c\u4ece\u63a5\u53d7\u4e86\u7b26\u5408\u6807\u51c6\u7684\u8be6\u7ec6\u8868\u578b\u8bc4\u4f30\u76845p\u7f3a\u5931\u75c5\u4f8b\u7684\u79ef\u7d2f\u4e2d\u9009\u62e9\u8fd9\u4e9b\u6837\u672c (Niebuhr 1978 b);\u7b14\u8005\u7b49\u4eba\u672a\u53d1\u8868\u7684\u7ed3\u679c) \u3002\u5927\u591a\u6570\u60a3\u8005\u90fd\u5728\u51e0\u5c81\u65f6\u8fdb\u884c\u8bc4\u4f30,\u4ee5\u4fbf\u53ef\u4ee5\u5728\u8bc4\u4f30\u6700\u597d\u7684\u53d1\u5c55\u9636\u6bb5\u5efa\u7acb\u8868\u578b\u3002\u8fd9\u4e9b\u75c5\u4f8b\u7684\u5b50\u96c6\u5df2\u5305\u542b\u57285p\u7f3a\u5931\u7684\u5f71\u54cd\u548c\u57fa\u56e0\u578b-\u8868\u578b\u76f8\u5173\u6027\u7684\u5148\u524d\u7814\u7a76\u4e2d(Overhauser et al.1990, 1994;Church et al.1995\u30011997).\u672c\u7814\u7a76\u7684\u7ed3\u679c\u663e\u793a\u4e86\u9635\u5217CGH\u7528\u4e8e\u8bc4\u4f30\u8fd9\u4e9b\u60a3\u8005\u7684\u91cd\u8981\u6027,\u4f7f\u5f97\u80fd\u591f\u63ed\u793a\u548c\u6539\u5584\u732b\u53eb\u7efc\u5408\u75c7\u4e2dMR,\u8bed\u97f3\u5ef6\u8fdf,\u9762\u90e8\u5f02\u5f62\u548c\u7279\u5f81\u6027\u54ed\u58f0\u7684\u57fa\u56e0\u578b-\u8868\u578b\u76f8\u5173\u6027\u3002<\/p>\n<aside>2004\u5e749\u670823\u65e5\u6536\u5230;2004\u5e7411\u670822\u65e5\u516c\u5f00\u53d7\u7406;2005\u5e741\u67084\u65e5\u7535\u5b50\u51fa\u7248\u3002\n\u901a\u8baf\u4e0e\u8f6c\u8f7d\u5730\u5740:\u65e7\u91d1\u5c71\u52a0\u5229\u798f\u5c3c\u4e9a\u5927\u5b66Daniel Pinkel, Box 0808,\u65e7\u91d1\u5c71\uff0c CA 94143\u3002<br>\u7535\u5b50\u90ae\u4ef6: pinkel@cc.ucsf.edu\n<p>&nbsp;<\/p>\n<p>2005\u5e74\u7f8e\u56fd\u4eba\u7c7b\u9057\u4f20\u5b66\u4f1a\u3002\u62e5\u6709\u6240\u6709\u7684\u6743\u5229\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>\u732b\u53eb\u7efc\u5408\u75c7\u60a3\u8005<\/p>\n<p>\u53d7\u8bd5\u8005\u9009\u81ea150\u591a\u540d5p\u7f3a\u5931\u60a3\u8005\u7684\u7ec4\uff0c\u8fd9\u4e9b\u60a3\u8005\u5728\u8fc7\u53bb\u51e0\u5341\u5e74\u4e2d\u7531\u5176\u4e2d1\u4eba (E.N.) \u8fdb\u884c\u4e86\u5e7f\u6cdb\u7814\u7a76\u3002\u5982\u679c\u53ef\u4ee5\u83b7\u5f97\u8be6\u7ec6\u7684\u4e34\u5e8a\u6570\u636e\u548c\u57fa\u56e0\u7ec4DNA,\u5c06\u53d7\u8bd5\u8005\u7eb3\u5165\u5176\u4e2d\u3002\u4e3a\u4e86\u4fbf\u4e8e\u8fdb\u4e00\u6b65\u7684\u7814\u7a76\uff0c\u4f5c\u8005\u63d0\u4f9b\u4e86\u5173\u4e8e\u4f53\u7ec6\u80de\u4e0e\u5f02\u5e38\u67d3\u8272\u4f53\u548c\u5f02\u5e385\u53f7\u67d3\u8272\u4f53\u7684\u6742\u5408\u4f53\u7684\u4eb2\u6e90\u7684\u5148\u524d\u7814\u7a76,\u5e76\u4e14\u4ec5\u5206\u6790\u4e86\u53ef\u83b7\u5f97\u5bb6\u65cf\u57fa\u56e0\u7ec4DNA\u7684\u53d7\u8bd5\u8005\u3002\u5bf9\u4e8e\u5927\u591a\u6570\u53d7\u8bd5\u8005\uff0c\u5e38\u89c4\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u7684\u7ed3\u679c\u662f\u53ef\u7528\u7684\u3002<a href=\"#table_1\">\u88681<\/a>\u5217\u51fa\u4e8694\u4e2a\u5408\u683c\u7684\u53d7\u8bd5\u8005\uff0c\u5305\u62ec\u8868\u578b\u8bc4\u4f30\u3001\u5e38\u89c4\u7ec6\u80de\u9057\u4f20\u5b66\u8bc4\u4f30\u548c\u9635\u5217\u7ed3\u679c\u3002\u60a3\u8005\u7f16\u53f71~69\u662f\u6307\u4e39\u9ea6\u7684\u6301\u7eed (\u8bca\u65ad\u65f6) \u5bb6\u5ead\u6210\u5458\u3002 \u8d85\u8fc7100\u540d\u60a3\u8005\u5206\u522b\u6765\u81ea\u5176\u4ed6\u56fd\u5bb6,\u5305\u62ec\u6765\u81ea\u632a\u5a01\u7684100-117\u540d\u60a3\u8005\u3001\u6765\u81ea\u82f1\u56fd\u7684201-256\u540d\u60a3\u8005\u3001\u6765\u81ea\u6377\u514b\u65af\u6d1b\u4f10\u514b\u7684300\u540d\u60a3\u8005\u548c\u6765\u81ea\u6fb3\u5927\u5229\u4e9a\u7684402\u540d\u60a3\u8005,\u5e76\u4e14\u5df2\u7ecf\u88ab\u4ecb\u7ecd\u7528\u4e8e\u66f4\u8be6\u7ec6\u7684\u4e34\u5e8a\u548c\u7ec6\u80de\u9057\u4f20\u5b66\u8bc4\u4f30\u3002\u56e0\u6b64\uff0c\u8fd9\u4e9b\u75c5\u4f8b\u662f\u5177\u67095p\u7f3a\u5931\u7684\u4e2a\u4f53\u7684\u51c6\u968f\u673a\u53d6\u6837\u3002\u8fd9\u4e9b\u6837\u672c\u7684\u9635\u5217CGH\u6d4b\u91cf\u662f\u5728\u83b7\u5f97\u52a0\u5dde\u5927\u5b66\u65e7\u91d1\u5c71\u5206\u6821\u7684\u8bd5\u9a8c\u5ba1\u67e5\u59d4\u5458\u4f1a\u7684\u9002\u5f53\u6279\u51c6\u540e\u8fdb\u884c\u7684\u3002<\/p>\n<p>\u901a\u8fc7\u5355\u4e2a\u89c2\u5bdf\u8005(E.N.)\u8bc4\u4f30\u8868\u578b\u7279\u5f81\uff0c\u5e76\u7edf\u4e00\u5e94\u7528\u5206\u7c7b\u6807\u51c6\u3002\u7531\u4e8e\u8868\u578b\u65b9\u9762\u53ef\u80fd\u5728\u53d1\u80b2\u671f\u95f4\u53d1\u751f\u53d8\u5316\uff0c\u56e0\u6b64\u5927\u591a\u6570\u60a3\u8005\u57285\u5c81\u4ee5\u4e0b\u62165\u5c81\u4ee5\u4e0a\u65f6\u91cd\u65b0\u8bc4\u4f30\u3002\u8868\u578b\u7279\u5f81\u7684\u5b58\u5728\u4e0e\u5426\u5728\u88681\u4e2d\u5206\u522b\u7528\u300cY\u300d \u6216 \u300cN\u300d \u6807\u8bb0\u3002\u56e0\u4e3a\u6570\u636e\u7684\u7f3a\u5931\u663e\u793a\u4e3a\u300cND\u300d ,\u4e14\u8868\u578b\u7279\u5f81\u53ef\u80fd\u53d6\u51b3\u4e8e\u5e74\u9f84,\u6240\u4ee5\u5982\u679c\u4efb\u4f55\u5e74\u9f84\u7ec4\u7684\u53d7\u8bd5\u8005\u90fd\u5b58\u5728 \u300cY\u300d ,\u5219\u5c06\u8868\u578b\u7279\u5f81\u5f52\u7c7b\u4e3a\u9633\u6027\u3002\u4f8b\u5982\uff0c\u54ed\u58f0\u548c\u9762\u90e8\u5f62\u6001\u5f02\u5e38\u5728\u60a3\u8005\u5e74\u8f7b\u65f6\u662f\u6700\u660e\u663e\u7684\uff0c\u56e0\u6b64\u5728\u8001\u5e74\u7ec4\u4e2d\u8fd9\u4e9b\u8868\u578b\u7684\u4e27\u5931\u5e76\u4e0d\u88ab\u8ba4\u4e3a\u662f\u91cd\u8981\u7684\u3002 \u67d0\u4e9b\u60a3\u8005\u5728\u67d0\u4e00\u5e74\u9f84\u8303\u56f4\u5185\u6ca1\u6709\u8868\u73b0\u51fa\u7279\u5b9a\u7684\u8868\u578b (\u8868\u793a\u300cN\u300d ) ,\u800c\u5176\u4ed6\u60a3\u8005\u65e0\u6cd5\u83b7\u5f97\u6570\u636e,\u5bfc\u81f4\u8868\u578b\u72b6\u6001\u7684\u4e0d\u786e\u5b9a\u6027\u3002\u8fd9\u4e9b\u75c5\u4f8b\u88ab\u6392\u9664\u5728\u786e\u5b9a\u5176\u7279\u5f81\u548c\u57fa\u56e0\u578b\u4e4b\u95f4\u7684\u5173\u7cfb\u4e4b\u5916\u3002\u56e0\u6b64\uff0c\u60a3\u800518\u300145\u300156\u3001112\u548c117\u4e0d\u7528\u4e8e\u5b9a\u4e49\u8868\u76ae\u533a\u57df,\u5e76\u4e14\u60a3\u800556\u548c112\u4e5f\u4e0d\u7528\u4e8e\u786e\u5b9a\u4e0e\u9762\u90e8\u7578\u5f62\u76f8\u5173\u7684\u57fa\u56e0\u7ec4\u533a\u57df\u3002\u5177\u6709\u6700\u4e25\u91cd\u7cbe\u795e\u969c\u788d\u7684\u60a3\u8005\u6ca1\u6709\u7528\u4e8e\u786e\u5b9a\u8a00\u8bed\u5ef6\u8fdf\u533a\u57df\uff0c\u56e0\u4e3a\u53ef\u80fd\u7531\u4e8e\u5176\u4ed6\u539f\u56e0\u800c\u5bfc\u81f4\u8a00\u8bed\u80fd\u529b\u53d7\u635f\u3002\u56e0\u6b64\uff0c\u6ca1\u6709\u4f7f\u7528\u60a3\u800545\u6765\u5b9a\u4f4d\u8868\u578b\u58f0\u97f3\u5206\u91cf\u3002<\/p>\n<p>\u5b9a\u4e49MR\u4e25\u91cd\u7a0b\u5ea6\u7684\u7cbe\u795e\u6d3b\u52a8\u53d1\u5c55\u8bc4\u4f30\u662f\u57fa\u4e8e\u4e2a\u4eba\u89c2\u5bdf (E.N.) ,\u6587\u4ef6\u4fe1\u606f,\u5fc3\u7406\u6d4b\u8bd5,\u5b66\u6821\u6210\u7ee9\u4fe1\u606f\u7b49\u3002\u7531\u4e8eMR\u5728\u5e7c\u513f\u4e2d\u96be\u4ee5\u8bc4\u4f30,\u56e0\u6b64\u4ec5\u4f7f\u75285\u5c81\u4ee5\u4e0a\u6570\u636e\u4e0e\u7f3a\u5931\u76f8\u5173\u7684\u60a3\u8005\u3002\u56e0\u6b64\uff0c\u5c0622\u4f8b\u3001225\u4f8b\u548c231\u4f8b\u6392\u9664\u5728\u672c\u5206\u6790\u4e4b\u5916\u3002MR\u7684\u7a0b\u5ea6\u75310 (\u4e0d\u53d7\u5f71\u54cd) \u52307 (\u4e25\u91cd\u5f71\u54cd) \u8303\u56f4\u7684\u6570\u503c\u6807\u5ea6\u8868\u793a\u3002\u5404\u5206\u7c7b\u7684\u4e00\u822c\u5224\u5b9a\u6807\u51c6\u5982<a href=\"#table_2\">\u88682<\/a>\u6240\u793a\u3002\u8fd9\u4e9b\u8bc4\u4f30\u7684\u4e0d\u786e\u5b9a\u6027\u4f30\u8ba1\u5728\u00b10.5\u548c\u00b11.0\u4e4b\u95f4\u7684\u8303\u56f4\u5185\uff0c\u5728\u91cf\u8868\u7684\u5e95\u90e8\u548c\u9876\u90e8\u3002<\/p>\n<p>\u7528\u4e8e\u9635\u5217-5 p\u7684\u9ad8\u5206\u8fa8\u7387\u5206\u6790\u7684\u9635\u5217\u5305\u62ec\u7531\u4f7f\u7528\u9057\u4f20\u6620\u5c04\u7684STS\u6807\u8bb0\u9009\u62e9\u7684BAC\u3001P 1\u548cPAC\u514b\u9686\u4ea7\u751f\u7684\u5143\u4ef6(Hudson et al.1995;Peterson et al.1999)\uff0c\u4ee5\u53ca\u5728\u7528\u4e8e\u6b63\u5e38\u5316\u548c\u5176\u5b83\u5f02\u5e38\u68c0\u6d4b\u7684\u5176\u5b83\u67d3\u8272\u4f53\u4e0a\u7684\u53ef\u53d8\u6570\u91cf\u7684\u590d\u5236\u3002\u6240\u6709\u590d\u5236\u7684\u4f4d\u7f6e\u90fd\u57fa\u4e8e2003\u5e747\u6708\u52a0\u5229\u798f\u5c3c\u4e9a\u5927\u5b66\u5723\u514b\u9c81\u5179 (UCSC) \u51bb\u7ed3\u7684\u4eba\u7c7b\u57fa\u56e0\u7ec4\u30025p\u7684\u8986\u76d6\u5bc6\u5ea6\u5728\u5148\u524d\u5b9a\u4e49\u4e3a\u732b\u53eb\u7efc\u5408\u75c7\u7684\u91cd\u8981\u533a\u57df\u4e2d\u6700\u9ad8\u3002<a href=\"#table_3\">\u88683<\/a>\u663e\u793a\u4e8655\u4e2a\u514b\u9686\u4f53,\u5305\u62ec\u5728\u8fd9\u4e9b\u60a3\u8005\u4e2d\u89c2\u5bdf\u5230\u7684\u6240\u67095p\u5f02\u5e38\u3002\u5f53\u57fa\u56e0\u7ec4\u5e8f\u5217\u5b8c\u6210\u540e\uff0c\u6211\u4eec\u53ef\u4ee5\u51c6\u786e\u5730\u7ed8\u5236\u5927\u591a\u6570\u514b\u9686\u4f53\u3002<br>\u7136\u800c\uff0c\u4e00\u4e9b\u5e8f\u5217\u4f4d\u7f6e\u5fc5\u987b\u6839\u636e\u9057\u4f20\u5730\u56fe\u4fe1\u606f\u8fdb\u884c\u63d2\u8865\u3002<br>\u5728\u9635\u5217\u4e0a\u5206\u6790\u6240\u6709\u60a3\u8005\uff0c\u5305\u62ec5p\u4e0a\u768455\u4e2a\u514b\u9686\u4f53\u548c\u5176\u4ed6\u4f4d\u7f6e\u4e0a\u7684100~300\u4e2a\u514b\u9686\u4f53\u3002\u5bf9\u4e8e\u5404\u79cd\u7248\u672c\u7684\u9635\u5217\uff0c\u5305\u62ec\u5206\u5e03\u5728\u6574\u4e2a\u57fa\u56e0\u7ec4\u4e2d\u7684\u7ea61,750~2,000\u4e2a\u514b\u9686\u4f53,\u5bf9\u5176\u4e2d37\u540d\u60a3\u8005\u8fdb\u884c\u5206\u6790 (Snijders et al.2001) \u4ee5\u68c0\u67e5\u6d89\u53ca\u5176\u4ed6\u67d3\u8272\u4f53\u7684\u5f02\u5e38\u3002\u5176\u4e2d\u4e00\u4e9b\u8f83\u5927\u7684\u9635\u5217\u4e0d\u5305\u542b\u4e00\u5957\u5b8c\u6574\u76845p\u514b\u9686\u4f53\u3002\n<\/p>\n<p>\u4ece\u514b\u9686\u4f53\u4e2d\u5206\u79bb\u51fa\u9635\u5217\u5143\u4ef6\u7684DNA,\u5e76\u901a\u8fc7\u8fde\u63a5\u4f53\u9002\u914d\u5668PCR\u8fdb\u884c\u6269\u589e\u3002\u4f7f\u7528\u5b9a\u5236\u6253\u5370\u673a\u5c06PCR\u4ea7\u7269\u70b9\u67d3\u5230\u6d82\u6709\u94ec\u7684\u8f7d\u73bb\u7247\u4e0a\uff0c\u8be5\u5b9a\u5236\u6253\u5370\u673a\u4f7f\u7528\u6bdb\u7ec6\u7ba1\u5370\u5237\u9500 (\u8be5\u4f5c\u8005\u672a\u53d1\u8868\u7684\u6750\u6599) \u60ac\u6d6e\u5728\u6d53\u5ea6\u4e3a\u7ea60.8\u03bcg\/\u03bcl\u7684\u6c34\u4e2d20%\u4e8c\u7532\u57fa\u4e9a\u781c\u4e0a\u3002\u4e3a\u6bcf\u4e2a\u514b\u9686\u4f53\u6253\u5370\u4e86\u4e09\u4e2a\u76f8\u90bb\u7684\u6591\u70b9\u3002\u5bf9\u4e8e\u8f83\u5c0f\u7684\u9635\u5217\uff0c\u5728\u9635\u5217\u4e0a\u5e7f\u6cdb\u5206\u79bb\u7684\u4f4d\u7f6e\u6253\u5370\u4e24\u7ec4\u4e09\u8054\u3002<\/p>\n<p>\u9635\u5217CGH\u6742\u4ea4\u548c\u5206\u6790-\u4f7f\u7528\u6807\u51c6\u6280\u672f\u4ece\u60a3\u8005\u548c\u5bf9\u7167\u53d7\u8bd5\u8005\u7684\u5916\u5468\u8840\u4e2d\u5206\u79bb\u5168\u57fa\u56e0\u7ec4DNA,\u5e76\u4f7f\u7528\u4efb\u4f55\u7f3a\u53e3\u7ffb\u8bd1 (1\u03bcg) \u6807\u8bb0DNA (Pinkel et al.1998)\u6216\u968f\u673a\u5f15\u7269\u5ef6\u4f38 (0.5\u03bcg) (Snijders et al.2001)\u3002\u6807\u8bb0\u4f7f\u7528\u4e0edCTP\u76f4\u63a5\u7ed3\u5408\u7684\u8367\u5149\u67d3\u6599\u3002\u4e00\u4e9b\u6d4b\u91cf\u4f7f\u7528\u8367\u5149\u7d20\u548c\u5fb7\u514b\u8428\u65af\u7ea2 (\u6216Alexa 594) \uff0c\u800c\u5176\u5b83\u6d4b\u91cf\u4f7f\u7528Cy3\u548cCy5\u5206\u522b\u6807\u8bb0\u6d4b\u8bd5\u57fa\u56e0\u7ec4\u548c\u53c2\u8003\u57fa\u56e0\u7ec4\u3002<\/p>\n<p>\u7528\u542b\u670950\u03bcg\u7684Cot -1 DNA\u6765\u6291\u5236\u91cd\u590d\u5e8f\u5217\u6df7\u5408\u7684\u6807\u8bb0\u6d4b\u8bd5\u548c\u53c2\u8003\u57fa\u56e0\u7ec4DNA\u88ab\u4e59\u9187\u6c89\u6dc0\u5e76\u518d\u60ac\u6d6e\u4e8e\u6742\u5316\u6df7\u5408\u7269\u4e2d,\u4ee5\u5f62\u621050%\u7532\u9170\u80fa\/10%\u786b\u9178\u8461\u805a\u7cd6\/2#SSC\/1%-4% (v\/v) SDS\u7684\u6700\u7ec8\u7ec4\u6210,\u603b\u4f53\u79ef\u4e3a50\u03bcl\u3002<br>\u5c06\u6742\u5316\u6df7\u5408\u7269\u52a0\u70ed\u81f370\u00b0C\u4ee5\u4f7fDNA\u53d8\u6027,\u5e76\u5c06\u6e29\u5ea6\u964d\u4f4e\u81f337\u00b0C\u7ea61\u5c0f\u65f6\u4ee5\u5141\u8bb8\u91cd\u590d\u5e8f\u5217\u7684\u518d\u805a\u96c6\u3002\u4e3a\u4e86\u6df7\u5408,\u5728\u9635\u5217\u5468\u56f4\u5f62\u6210\u4e86\u7531\u6a61\u80f6\u6c34\u6ce5\u5236\u6210\u7684\u4f4e\u5c4f\u969c\u3002\u7136\u540e\uff0c\u5c06\u6742\u4ea4\u6df7\u5408\u7269\u65bd\u52a0\u5230\u9635\u5217\u4e0a\uff0c\u5e76\u5c06\u9635\u5217\u7f6e\u4e8e\u5bc6\u5c01\u5ba4\u4e2d\uff0c\u5176\u4e2d\u6d41\u4f53\u7684\u4e0a\u8868\u9762\u4fdd\u6301\u81ea\u7531\u3002\u6df7\u5408\u572837\u00b0C\u7f13\u6162\u6447\u52a8\u7684\u5de5\u4f5c\u53f0\u4e0a\u8fdb\u884c16\u81f348\u5c0f\u65f6 (Pinkel et al.1998) \u3002<br>\u6df7\u5408\u540e,\u5c06\u9635\u5217\u7f6e\u4e8ePN\u7f13\u51b2\u6db2 (0.1M\u78f7\u9178\u94a0) \u4e2d,\u4ee5\u9664\u53bb\u5927\u90e8\u5206\u6df7\u5408\u6eb6\u6db2;0.1%\u8bfa\u5c3c\u8fea\u7279P 40;\u5728pH 8) \u7684\u6d41\u52a8\u4e2d\u5feb\u901f\u6d17\u6da4,\u7136\u540e\u572845\u00b0C\u4e0b\u572850%\u7532\u9170\u80fa\/2#SSC\u4e2d\u6d78\u6e0d15\u5206\u949f,\u7136\u540e\u5728\u5ba4\u6e29PN\u7f13\u51b2\u6db2\u4e2d\u6700\u7ec8\u6d17\u6da415\u5206\u949f\u3002\u6e05\u6d17\u9635\u5217\u540e\uff0c\u5c06\u542b\u67091\u03bcM DNA\u67d3\u8272DAPI (4\u2032\uff0c6-\u4e8c\u6c28\u57fa-2-\u82ef\u57fa\u5432\u54da)\u768490%\u7518\u6cb9\u548c10%\u78f7\u9178\u7f13\u51b2\u6db2pH 9\u65bd\u7528\u4e8e\u6bcf\u4e2a\u9635\u5217\uff0c\u5e76\u52a0\u5165\u76d6\u73bb\u7247\u3002DAPI\u5bf9\u9635\u5217\u6591\u70b9\u8fdb\u884c\u67d3\u8272\u5e76\u4f7f\u5176\u53ef\u89c6\u5316\uff0c\u800c\u4e0d\u8003\u8651\u6df7\u5408\u4fe1\u53f7\u3002<\/p>\n<p>\u9635\u5217\u7528\u5b9a\u5236\u7535\u8377\u8026\u5408\u5668\u4ef6 (CCD) \u6210\u50cf\u7cfb\u7edf(Pinkel et al.1998;\u672c\u6587\u4f5c\u8005\u672a\u53d1\u8868\u7684\u6570\u636e) \u6210\u50cf\u3002\u6574\u4e2a\u9635\u5217\u5305\u542b\u5728\u4e00\u4e2aCCD\u56fe\u50cf\u4e2d\u3002\u5927\u591a\u6570\u5206\u6790\u4f7f\u7528\u56fe\u50cf\u5206\u6790\u8f6f\u4ef6UCSF SPOT (Jain et al.2002)\u3002\u8be5\u7a0b\u5e8f\u4f7f\u7528DAPI\u56fe\u50cf\u6765\u786e\u5b9a\u9635\u5217\u4e2d\u7684\u70b9\u7684\u4f4d\u7f6e\uff0c\u5e76\u5728\u51cf\u53bb\u5c40\u90e8\u80cc\u666f\u4e4b\u540e\u8ba1\u7b97\u6bcf\u4e2a\u70b9\u4e2d\u7684\u6bcf\u4e2a\u50cf\u7d20\u7684\u6d4b\u8bd5\u548c\u53c2\u8003\u5f3a\u5ea6\u3002\u4f7f\u7528\u603b\u6d4b\u8bd5\u5f3a\u5ea6 (\u51cf\u53bb\u80cc\u666f) \u4e0e\u603b\u53c2\u8003\u5f3a\u5ea6 (\u51cf\u53bb\u80cc\u666f) \u4e4b\u6bd4\u4f5c\u4e3a\u6bcf\u4e2a\u70b9\u7684\u76f8\u5bf9\u590d\u5236\u6570\u7684\u6307\u6807,\u5e76\u4e14\u5e73\u5747\u590d\u5236\u6bd4\u7387\u3002\u4e0d\u5bf9\u56fe\u50cf\u6216\u6bd4\u7387\u6570\u636e\u8fdb\u884c\u4efb\u4f55\u7c7b\u578b\u7684\u8ba1\u7b97\u8c03\u6574(\u9634\u5f71\u6821\u6b63\u3001\u4f4e\u89c4\u683c\u5316\u3001\u7a7a\u95f4\u4f9d\u8d56\u6027\u89c4\u683c\u5316\u548c\u514b\u9686\u7279\u5f02\u6027\u89c4\u683c\u5316) \u3002\u4e3a\u4e86\u8bc6\u522b\u95ee\u9898\u4fe1\u53f7\uff0c\u5e94\u7528\u4e86\u8d28\u91cf\u6807\u51c6\uff0c\u5305\u62ec\u70b9\u4e2d\u7684\u6d4b\u8bd5\u4fe1\u53f7\u548c\u53c2\u8003\u4fe1\u53f7\u4e4b\u95f4\u7684\u76f8\u5173\u6027\u3002\u901a\u5e38\uff0c\u4ece\u5206\u6790\u4e2d\u53bb\u9664\u5177\u6709\u76f8\u5173r&lt;0.8\u4e2a\u5730\u70b9\u88ab\u62d2\u7edd\u4e86\u3002\u5173\u4e8e\u526f\u672c\u7684SD&gt;0.2\u7684\u514b\u9686\u3002\u5728\u5927\u591a\u6570\u60c5\u51b5\u4e0b\uff0c\u590d\u5236\u70b9\u7684SD&lt;0.02\u3002\u6211\u4eec\u8fd8\u653e\u5f03\u4e86\u5bf9\u514b\u9686\u7684\u6d4b\u91cf\uff0c\u5176\u4e2d\u53ea\u6709\u4e00\u4e2a\u514b\u9686\u7ecf\u8fc7\u8d28\u91cf\u68c0\u9a8c\u3002\u5e94\u7528\u6574\u4f53\u5f52\u4e00\u5316\u7cfb\u6570\uff0c\u5c06\u6bcf\u4e2a\u5355\u5143\u7684\u4e24\u4e2a\u526f\u672c\u7684\u9635\u5217\u5143\u7d20\u7684log2\u6bd4\u7387\u7684\u4e2d\u503c (\u5373\u4e2d\u503c\u7ebf\u6027\u6bd4\u7387) \u5206\u522b\u8bbe\u7f6e\u4e3a0\u62161\u3002<\/p>\n<\/section>\n\n\n\n<section id=\"figure_1\" class=\"note_figure\">\n<h3><span class=\"ez-toc-section\" id=\"%E5%9B%BE1\"><\/span>\u56fe1<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>\u5bf9\u732b\u53eb\u7efc\u5408\u75c7\u60a3\u8005\u8fdb\u884cCGH\u5206\u6790\u3002A\u3001\u672b\u7aef\u7f3a\u5931\uff0c\u60a3\u800527\u3002\u5728\u4ece\u5de6\u4fa7\u7aef\u7c92\u5f00\u59cb\u7684\u67d3\u8272\u4f535p\u4e0a\u7684\u514b\u9686\u4f53\u987a\u5e8f\u4e0a\u7ed8\u5236\u6d4b\u91cf\u6bd4\u7387\u7684log2\u3002\u514b\u9686\u8868\u7684\u6620\u5c04\u4f4d\u7f6e\u5982<a href=\"#table_3\">\u88683<\/a>\u6240\u793a\u3002\u5c06\u6570\u636e\u89c4\u683c\u5316,\u4f7f\u5f97\u5305\u542b\u6bcf\u4e2a\u5e8f\u5217\u7684\u4e24\u4e2a\u62f7\u8d1d\u7684\u57fa\u56e0\u7ec4\u90e8\u5206\u7684log2p\u6bd4\u4e3a0\u3002\u5927\u591a\u6570\u60c5\u51b5\u4e0b\uff0c\u9519\u8bef\u680f\u4e0e\u56fe\u4e2d\u7684\u70b9\u5927\u5c0f\u76f8\u540c\uff0c\u5e76\u663e\u793a\u6bcf\u4e2a\u514b\u9686\u7684\u590d\u5236\u70b9\u4e0a\u7684SD\u6d4b\u91cf\u3002\u7f3a\u5931\u8fb9\u754c\u53d1\u751f\u5728\u514b\u9686\u4f5348\u548c49\u4e4b\u95f4\u3002\u7bad\u5934\u6307\u793a\u514b\u9686\u4f5339\u5728\u53d7\u8bd5\u8005\u4e2d\u5904\u4e8e\u6b63\u5e38\u548c\u7f3a\u5931\u4e4b\u95f4\u7684\u6bd4\u7387 (\u9762\u677fB) ,\u4e14\u7f3a\u5931\u5305\u62ec\u514b\u9686\u4f5339,\u4f46\u4e0d\u5305\u62ec\u514b\u9686\u4f5351\u548c52\u5468\u56f4\u7684\u533a\u57df\u3002 log 2\u7684\u514b\u9686\u4f5339\u548c0.4\u4e0e\u514b\u9686\u4e2d\u5e8f\u5217\u76844~3\u4e2a\u590d\u5236\u526f\u672c\u7684\u7f3a\u5931\u4e00\u81f4,\u8868\u660e\u5728\u4eba\u7c7b\u57fa\u56e0\u7ec4\u4e2d\u88ab\u590d\u5236\u3002FISH\u5206\u6790\u8bc1\u5b9e\u4e86\u8fd9\u79cd\u91cd\u53e0\u4ee5\u53ca\u4eba\u7c7b\u57fa\u56e0\u7ec4\u5e8f\u5217\u7684\u4e00\u90e8\u5206\u7684\u51bb\u7ed3\u3002B\u3001\u95f4\u8d28\u6027\u7f3a\u5931\uff0c\u60a3\u8005114\u3002\u514b\u9686\u4f5339 (\u7bad\u5934) \u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b\u4e5f\u663e\u793a\u51fa\u4e2d\u95f4\u6bd4\u7387\u3002C\u3001\u60a3\u800545\u5168\u57fa\u56e0\u7ec4\u5206\u6790\u3002\u4e0a\u56fe\u663e\u793a\u4e86\u6574\u4e2a\u57fa\u56e0\u7ec4\u7684\u6570\u636e\uff0c\u514b\u9686\u6309\u57fa\u56e0\u7ec4\u7684\u987a\u5e8f\u7ed8\u5236\u3002\u68c0\u6d4b\u52302\u4e2a\u5c0f\u7f3a\u5931\u533a\u57df (\u6bcf\u4e2a\u533a\u57df\u5305\u542b\u51e0\u4e2a\u8fde\u7eed\u514b\u9686\u4f53) \u3002\u4e0b\u9762\u7684\u9762\u677f\u663e\u793a\u4e86\u6839\u636e\u5e8f\u5217\u4f4d\u7f6e\u7ed8\u5236\u7684\u5305\u542b\u7f3a\u5931\u7684\u7b2c5\u548c\u7b2c6\u67d3\u8272\u4f53\u7684\u8be6\u7ec6\u6570\u636e\u3002\u8be5\u9635\u5217\u4e0d\u5305\u62ec<a href=\"#table_3\">\u88683<\/a>\u4e2d\u5217\u51fa\u7684\u5b8c\u65745p\u514b\u9686\u7ec4,\u56e0\u6b645p\u7f3a\u5931\u5305\u62ec\u6bd4\u9ad8\u5206\u8fa8\u7387\u5206\u6790\u4e2d\u66f4\u5c11\u7684\u514b\u9686\u7ec4\u3002\u5177\u6709\u4e0d\u540c\u4e8e0\u7684\u6bd4\u7387\u7684\u5355\u4e2a\u514b\u9686\u53ef\u663e\u793a\u5728\u6d4b\u8bd5\u57fa\u56e0\u7ec4\u548c\u53c2\u8003\u57fa\u56e0\u7ec4\u4e4b\u95f4\u7684\u62f7\u8d1d\u6570\u591a\u6001\u6027(Albertson\u548cPinkel 2003;Iafrate et al.2004;Sebat et al.2004)\u6216\u5c0f\u7684\u989d\u5916\u50cf\u5dee\u3001\u5e72\u6270\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_94%E4%BE%8B%E7%8C%AB%E5%8F%AB%E7%BB%BC%E5%90%88%E7%97%87%E6%82%A3%E8%80%85%E4%B8%BB%E8%A6%81%E6%95%B0%E6%8D%AE%E6%91%98%E8%A6%81\"><\/span>\u88681 94\u4f8b\u732b\u53eb\u7efc\u5408\u75c7\u60a3\u8005\u4e3b\u8981\u6570\u636e\u6458\u8981<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\u578b<\/th>\n<th rowspan=\"2\">\u7ea7\u522b<\/th>\n<th rowspan=\"2\">\u4f20\u7edf\u7ec6\u80de\u9057\u4f20\u5b66<sup>a<\/sup><\/th>\n<th colspan=\"2\">\u8fb9\u754c<br>(Mb\/clone no.<sup>b<\/sup>)<\/th>\n<\/tr>\n<tr>\n<th>\u7279\u5f81\u6027\u7684\u54ed\u58f0<sup>c<\/sup><\/th>\n<th>\u9762\u90e8\u7578\u5f62<sup>c<\/sup><\/th>\n<th>\u58f0\u97f3\u5ef6\u8fdf<\/th>\n<th>\u8fd1\u7aef<sup>d<\/sup><\/th>\n<th>\u8fdc\u7aef<\/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\">\u53ef\u4ee5\u6a2a\u5411\u6ed1\u52a8<\/p>\n<\/div>\n<aside>\n<ul>\n<li>\u6ce8\u610f.-Y p\u8868\u578b\u5b58\u5728\u3002\u65e0N p\u8868\u578b\u3002ND p\u5c1a\u672a\u786e\u5b9a\u3002<\/li>\n<li>a \u661f\u53f7 (*) \u8868\u793a\u65b0\u53d1\u75c5\u4f8b (\u517183\u4f8b,\u7236\u4eb278%,\u6bcd\u4eb222%) \u3002\u5176\u4f5911\u4f8b\u4e3a\u5bb6\u65cf\u9057\u4f20\u3002<\/li>\n<li>b \u514b\u9686\u7f16\u53f7\u5728<a href=\"#table_3\">\u88683<\/a>\u4e2d\u3002<\/li>\n<li>c \u60a3\u8005\u5e74\u9f84\u5c0f\u4e8e\u6216\u7b49\u4e8e5\u5c81,\u6216\u5927\u4e8e\u6216\u7b49\u4e8e5\u5c81\u3002<\/li>\n<li>d 5p\u7f3a\u5931\u8fb9\u754c\u4e0a\u7684\u672a\u5220\u9664\u514b\u9686\u4f53\u3002\u5982\u679c\u5b58\u5728\u95f4\u8d28\u7f3a\u5931\uff0c\u5219\u8868\u793a\u8fd1\u7aef\u548c\u8fdc\u7aef\u7f3a\u5931\u8fb9\u754c\u3002\u8fb9\u754c\u514b\u9686\u5728\u7f3a\u5931\u8fb9\u754c\u4e0a\u6709\u91cd\u53e0\uff0c\u56e0\u6b64\u590d\u5236\u6570\u91cf\u589e\u52a0\uff08<a href=\"#table_4\">\u88684<\/a>\uff09\u3002<\/li>\n<li>e \u60a3\u8005\u6b7b\u4ea1\uff0c\u65e0\u6cd5\u83b7\u5f97MR (NA) \u3002<\/li>\n<li>f \u6709\u5e72\u6270\u7684\u6837\u672c\u3002\u591a\u4e2a\u6df7\u5408\u8868\u660e\u8fb9\u754c\u53ef\u4ee5\u662f\u514b\u9686\u4f5336\u621637\u3002<\/li>\n<li>g \u60a3\u8005225\u548c231\u7684\u8bc4\u4f30\u5206\u522b\u4e3a3.5\u5c81\u548c3\u5c81\u3002<\/li>\n<\/ul>\n<\/aside>\n<\/section>\n\n\n\n<section id=\"result\">\n<h2><span class=\"ez-toc-section\" id=\"%E7%BB%93%E6%9E%9C\"><\/span>\u7ed3\u679c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<h3><span class=\"ez-toc-section\" id=\"%E9%98%B5%E5%88%97CGH%E6%B5%8B%E9%87%8F\"><\/span>\u9635\u5217CGH\u6d4b\u91cf<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>5\u53f7\u67d3\u8272\u4f53\u548c\u5168\u57fa\u56e0\u7ec4\u626b\u63cf\u7684\u4ee3\u8868\u6027\u590d\u5236\u6570\u66f2\u7ebf\u5982\u56fe1\u6240\u793a\u3002\u5355\u4e00\u526f\u672c\u7684\u7f3a\u5931\u548c\u5747\u5300\u6837\u672c\u4e2d\u7684\u589e\u76ca\u7406\u60f3\u5730\u5206\u522b\u5177\u6709-1.0\u548c+0.58\u7684log2\u6bd4\u7387\u3002<br>\u5728\u5b9e\u8df5\u4e2d\uff0c\u7f3a\u5931\u7684\u6bd4\u7387\u5728-1~-0.7\u4e4b\u95f4,\u8fd9\u53ef\u80fd\u662f\u7531\u4e8e\u6765\u81ea\u9ad8\u5ea6\u91cd\u590d\u5e8f\u5217\u4fe1\u53f7\u7684\u4e0d\u5b8c\u5168\u6291\u5236\u3001\u4ea4\u53c9\u6df7\u5408\u4ee5\u53ca\u80cc\u666f\u6c34\u5e73\u7684\u4e0d\u5b8c\u5168\u5b9a\u4e49\u800c\u504f\u79bb\u7406\u60f3\u3002\u901a\u8fc7\u4f7f\u7528\u8bbe\u7f6e\u4e3a\u7b49\u4e8e-0.4\u7684log 2\u6bd4\u7387\u7684\u7b80\u5355\u9608\u503c\uff0c\u4e0e\u590d\u5236\u6570\u7684\u6bd4\u7387\u548c\u5e72\u6270\u7b49\u7ea7(\u5982<a href=\"#figure_1\">\u56fe1<\/a>\u6240\u793a)\u4e4b\u95f4\u7684\u8fd9\u79cd\u8fd1\u4f3c\u5b9a\u91cf\u5173\u7cfb,\u53ef\u4ee5\u975e\u5e38\u53ef\u9760\u5730\u68c0\u6d4b\u7f3a\u5931\u3002\u5728\u5927\u591a\u6570\u60c5\u51b5\u4e0b\uff0c\u5728\u5355\u4e00\u6df7\u5408\u4e2d\u5b9e\u73b0\u4e86\u8db3\u4ee5\u5efa\u7acb\u4e24\u4e2a\u9635\u5217\u514b\u9686\u4f53\u4e4b\u95f4\u7684\u4e00\u4e2a\u6216\u4e24\u4e2a\u95f4\u9694\u7684\u7f3a\u5931\u8fb9\u754c\u7684\u7cbe\u5ea6\u3002\u5982\u679c\u7b2c\u4e00\u6b21\u6d4b\u91cf\u5e72\u6270\u592a\u5927\uff0c\u65e0\u6cd5\u8bc6\u522b\u4e0e\u7f3a\u5931\u8fb9\u754c\u76f8\u90bb\u7684\u514b\u9686\u4f53,\u5219\u91cd\u590d\u6d4b\u91cf\u3002<br>\u7531\u4e8e\u6ca1\u6709\u63d0\u4f9b\u6bd4\u518d\u6df7\u5408\u66f4\u591a\u7684\u4fe1\u606f,\u56e0\u6b64\u6ca1\u6709\u8fdb\u884c\u8272\u7d20\u53cd\u8f6c\u6cd5\u6d4b\u5b9a\u3002\u6709\u65f6\uff0c\u5df2\u7ecf\u53d1\u73b0\u6837\u672cDNA\u7684\u91cd\u65b0\u7eaf\u5316\u6539\u5584\u4e86\u6570\u636e\u7684\u8d28\u91cf,\u5e76\u4e14\u8868\u660e\u4e00\u4e9b\u6837\u672c\u4e2d\u7684\u672a\u77e5\u6c61\u67d3\u7269\u5f71\u54cd\u4e00\u81f4\u6807\u8bb0\u6216\u6742\u4ea4\u57fa\u56e0\u7ec4DNA\u7684\u80fd\u529b\u3002<\/p>\n<p><a href=\"#table_1\">\u88681<\/a>\u603b\u7ed3\u4e8694\u4f8b\u60a3\u8005\u7684\u7f3a\u5931\u6570\u636e\u3001\u5e38\u89c4\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u548c\u8868\u578b\u7279\u5f81\u3002\u60a3\u8005\u4f7f\u7528\u5148\u524d\u7f16\u53f7 (Niebuhr 1978 a;\u4e0e\u4f5c\u8005\u672a\u53d1\u8868\u7684\u8d44\u6599) \u76f8\u5bf9\u5e94\uff0c\u6309\u7f16\u53f7\u987a\u5e8f\u5217\u51fa\u3002<\/p>\n<p>\u572882\u540d\u53d7\u8bd5\u8005\u4e2d\uff0c\u7f3a\u5931\u662f\u672b\u7aef\u7684\uff0c\u800c\u572812\u540d\u53d7\u8bd5\u8005\u4e2d\uff0c\u7f3a\u5931\u662f\u95f4\u8d28\u6027\u7684\uff0c\u57285p\u5904\u5171\u6709106\u4e2a\u7f3a\u5931\u8fb9\u754c\u3002\u5982\u4e0b\u6240\u8be6\u8ff0\uff0c\u5728\u53d7\u8bd5\u8005\u4e2d\u768415\u4f8b\u4e2d\uff0c\u9664\u4e865p\u7f3a\u5931\u4e4b\u5916\uff0c\u8fd8\u89c2\u5bdf\u5230\u62f7\u8d1d\u6570\u5f02\u5e38\u3002\u8fd9\u4e9b\u5f02\u5e38\u4e2d\u76843\u4e2a\u662f\u4e0e\u7f3a\u5931\u8fb9\u754c\u76f8\u90bb\u76845p\u5e8f\u5217\u7684\u91cd\u590d\uff0c\u4f46\u5176\u4ed6\u5f02\u5e38\u5982\u88684\u6240\u793a\u5305\u542b5p\u4ee5\u5916\u7684\u57fa\u56e0\u7ec4\u533a\u57df\u3002<\/p>\n<p>\u6839\u636e\u4f5c\u8005\u7684\u6d4b\u91cf,\u53d1\u73b0\u4e86\u4e24\u4e2a\u6709\u8da3\u7684DNA\u5e8f\u5217\u7279\u5f81\u7684\u8ff9\u8c61\u3002\u9996\u5148\uff0c\u68c0\u6d4b\u5230\u4e00\u4e2a\u91cd\u8981\u7684\u65ad\u70b9\u96c6\u7fa4\u3002\u5728\u8fd9\u4e9b\u60a3\u8005\u4e2d\u89c2\u5bdf\u5230\u7684\u6240\u6709106\u4e2a\u7f3a\u5931\u8fb9\u754c\u90fd\u53d1\u751f\u5728\u67d3\u8272\u4f53\u7684\u8fdc\u7aef\u7ea633Mb\u5185,\u4ece\u800c\u5bfc\u81f4\u6bcf\u5146\u78b1\u57fa\u7ea63\u4e2a\u8fb9\u754c\u7684\u5e73\u5747\u5bc6\u5ea6\u3002<br>\u572894\u4f8b\u4e2d\uff0c\u67099\u4f8b\u57285p 15.2\u7684\u514b\u9686\u4f5326\u300127\u548c28\u7684\u7ea60.5Mb\u533a\u4e2d\u5177\u6709\u8fdc\u7aef\u6216\u8fd1\u7aef\u8fb9\u754c,\u6bcf\u5146\u78b1\u57fa\u4ea7\u751f\u7ea618\u4e2a\u8fb9\u754c\u3002<br>\u6b64\u5916\uff0c\u5982\u679c\u8be5\u533a\u57df\u7684\u514b\u9686\u59822003\u5e747\u6708\u7684\u9635\u5217\u51bb\u7ed3\u6240\u793a\u8fdb\u884c\u6392\u5e8f\uff0c\u5219\u7f3a\u5931\u8fb9\u754c\u770b\u8d77\u6765\u5f88\u590d\u6742\uff0c\u5e76\u4e14\u4e0e\u8fb9\u754c\u76f8\u90bb\u7684\u514b\u9686\u7684\u6bd4\u7387\u5b58\u5728\u632f\u8361\u3002\u5728\u6240\u6709\u60c5\u51b5\u4e0b\uff0c\u5bf9\u514b\u9686\u8fdb\u884c\u6392\u5e8f\u7b80\u5316\u4e86\u7f3a\u5931\u8fb9\u754c\u7684\u8868\u89c2\u7ed3\u6784\u3002\u5728 <a href=\"#table_1\">\u88683<\/a>\u4e2d\uff0c\u4ee5\u4fee\u8ba2\u7684\u987a\u5e8f\u5217\u4e3e\u514b\u9686\uff0c\u6839\u636e\u57fa\u56e0\u7ec4\u5e8f\u5217\u7684\u96c6\u5408\u8868\u793a\u78b1\u57fa\u5e8f\u5217\u7684\u4f4d\u7f6e\u3002\u8fd9\u4e9b\u7ed3\u679c\u8868\u660e\uff0c\u8be5\u533a\u57df\u4e2d\u53ef\u80fd\u5b58\u5728\u4e00\u4e9b\u5e8f\u5217\u57fa\u5e8f\uff0c\u5176\u4fc3\u8fdb\u5f02\u5e38\u5f62\u6210\u5e76\u4f7f\u57fa\u56e0\u7ec4\u5e8f\u5217\u7684\u9002\u5f53\u96c6\u5408\u590d\u6742\u5316\u3002\u6216\u8005\uff0c\u5982\u679c\u5e8f\u5217\u7ec4\u5408\u662f\u6b63\u786e\u7684\uff0c\u5219\u8be5\u533a\u57df\u7684\u7f3a\u5931\u8fb9\u754c\u7684\u7c07\u5177\u6709\u53cd\u6620\u5c40\u90e8\u5e8f\u5217\u7279\u5f81\u7684\u91cd\u590d\u590d\u6570\u590d\u5236\u7ed3\u6784\u3002\u8f83\u9ad8\u5bc6\u5ea6\u7684\u514b\u9686\u8986\u76d6\u7387\u5c06\u53ef\u80fd\u51cf\u5c0f\u8be5\u7c07\u533a\u57df\u7684\u5927\u5c0f\uff0c\u5e76\u4e14\u53ef\u80fd\u63ed\u793a5p\u5904\u7684\u5176\u5b83\u65ad\u70b9\u7c07\u3002<br>\u6211\u4eec\u53d1\u73b0\u7684\u7b2c\u4e8c\u4e2a\u5e8f\u5217\u7279\u5f81\u662f\u6b63\u5e38\u4eba\u57fa\u56e0\u7ec4\u4e2d5p\u4e0a\u7684\u5e8f\u5217\u91cd\u53e0\u533a\u300258\u4e2a\u793a\u4f8b(\u4f8b\u5982\uff0c<a href=\"#figure_1\">\u56fe1A\u548c1B<\/a>)\u4e2d\u7684\u6570\u636e\u8868\u660e\uff0c\u5f53\u514b\u968639\u660e\u663e\u7f3a\u5931\u65f6\uff0c\u5728\u6b63\u5e38\u533a\u57df\u4e2d\u4ecb\u4e8e\u9884\u671f\u548c\u7f3a\u5931\u4e4b\u95f4\u7684log 2\u6bd4\u7387\u81f3<br>\u663e\u793a\u6709-0.4\u3002\u7136\u800c\uff0c\u5f53\u7f3a\u5931\u5411\u8fd1\u7aef\u5ef6\u4f38\u4ee5\u5305\u62ec\u514b\u9686\u4f5351\u548c52\u7684\u533a\u57df\u65f6,\u514b\u9686\u4f5339\u4e0a\u7684\u6bd4\u7387\u964d\u4f4e\u5230\u671f\u671b\u503c\u3002\u8fd9\u8868\u660e\u514b\u9686\u4f5339\u5e8f\u5217\u7684\u76f8\u5f53\u4e00\u90e8\u5206\u662f\u5728\u514b\u9686\u4f5351\u548c52\u4e4b\u95f4\u4ee55p\u590d\u5236\u7684,\u5e76\u4e14\u4ec5\u5305\u62ec\u514b\u9686\u4f5339\u7684\u7f3a\u5931\u4ee3\u8868\u4ece4\u4e2a\u526f\u672c\u52303\u4e2a\u526f\u672c (log2 [3\/4] \u5230-0.4) \u7684\u53d8\u5316\u3002<br>\u4f7f\u7528\u8be5BAC\u4f5c\u4e3a\u63a2\u9488\u7684FISH\u5206\u6790\u8bc1\u5b9e\u4e86\u8fd9\u4e00\u5047\u8bbe\uff0c\u5e76\u4e14\u57285p\u4e2d\u53d1\u73b0\u4e86\u4e24\u4e2a\u63a5\u8fd1\u7684\u4fe1\u53f7\u3002\u4eba\u7c7b\u57fa\u56e0\u7ec4\u5e8f\u5217\u7684\u4e00\u90e8\u5206\u7684\u51bb\u7ed3 (2002\u5e746\u6708,2002\u5e7411\u6708,2003\u5e744\u6708) \u663e\u793a\u4e86\u8fd9\u79cd\u91cd\u53e0\u7684\u5b58\u5728,\u5e76\u4e14\u663e\u793a\u4e86BAC\u4e2d\u7684\u6807\u8bb0\u4f4d\u4e8e20.791Mb\u548c34.070Mb (2003\u5e744\u6708) \u3002<br>2003\u5e747\u6708\u7684\u51bb\u7ed3\u5e76\u4e0d\u610f\u5473\u7740\u91cd\u590d\u3002\u8fd9\u79cd\u7c7b\u578b\u7684\u5927\u91cf\u91cd\u53e0\u5728\u57fa\u56e0\u7ec4\u4e2d\u9891\u7e41\u53d1\u751f(Lupski et al.1996;Eichler 2001)<br>\u5728\u8be5\u7ec4\u4e2d\u53d1\u73b0\u542b\u6709\u514b\u9686\u4f5339\u7684\u6837\u54c1,\u5176\u4e2dDNA\u62f7\u8d1d\u6570\u6ca1\u6709\u591a\u6001\u6027 (Albertson and Pinkel 2003;Iafrate et al.2004;Sebat et al.2004) \u3002\u8be5\u533a\u57df\u4e2d\u53ef\u80fd\u7684\u5e8f\u5217\u590d\u6742\u6027\u7684\u8fdb\u4e00\u6b65\u6697\u793a\u662f\uff0c\u5982<a href=\"#table_3\">\u88683<\/a>\u6240\u8ff0\uff0c\u5e8f\u5217\u96c6\u5408\u4e0e\u514b\u9686\u987a\u5e8f\u4e0d\u4e00\u81f4\uff0c\u8fd9\u662f\u7531\u5173\u4e8e\u514b\u9686\u4f5351\u7684\u7f3a\u5931\u8fb9\u754c\u7684\u6700\u7b80\u5355\u89e3\u91ca\u6240\u6307\u793a\u7684\u3002<\/p>\n<h4><span class=\"ez-toc-section\" id=\"MR%E5%AF%B9%E7%BC%BA%E5%A4%B1%E7%9A%84%E4%BE%9D%E8%B5%96%E6%80%A7\"><\/span>MR\u5bf9\u7f3a\u5931\u7684\u4f9d\u8d56\u6027<span class=\"ez-toc-section-end\"><\/span><\/h4>\n<p><a href=\"#figure_2\">\u56fe2A<\/a>\u793a\u51fa\u4e865p\u7f3a\u5931\u4e0e\u60a3\u8005MR\u72b6\u6001\u4e4b\u95f4\u7684\u5173\u7cfb\uff0c\u5176\u4e2d\u901a\u8fc7\u589e\u52a0\u5ef6\u8fdf\u6c34\u5e73\u5bf9\u60a3\u8005\u8fdb\u884c\u6392\u5e8f\u3002\u8fd9\u79cd\u5173\u7cfb\u770b\u8d77\u6765\u65e2\u590d\u6742\u53c8\u6709\u4e9b\u5c34\u5c2c\u3002\u968f\u7740\u7f3a\u5931\u7a0b\u5ea6\u7684\u589e\u52a0\uff0c\u5ef6\u8fdf\u7684\u4e25\u91cd\u7a0b\u5ea6\u660e\u663e\u589e\u52a0\uff0c\u4f46\u4e5f\u6709\u4e00\u4e9b\u91cd\u8981\u7684\u4f8b\u5916\u3002\u4f8b\u5982\uff0c\u4e00\u4e9b\u57285p\u5904\u5177\u6709\u95f4\u8d28\u6027\u7f3a\u5931\u7684\u60a3\u8005\u4e0d\u53d7\u5f71\u54cd\u6216\u7a0d\u5fae\u5ef6\u8fdf\uff0c\u800c\u4e00\u4e9b\u5728\u76f8\u540c\u533a\u57df\u5177\u6709\u5c0f\u7f3a\u5931\u7684\u60a3\u8005\u660e\u663e\u5ef6\u8fdf\u3002<\/p>\n<p>\u5148\u524d\u5df2\u7ecf\u5bf9\u8fd9\u4e9b\u53d7\u8bd5\u8005\u8fdb\u884c\u4e86\u5e38\u89c4\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u548cFISH\u5206\u6790\uff0c\u5e76\u4e14\u5df2\u663e\u793a\u4e00\u4e9b\u60a3\u8005\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u662f\u590d\u6742\u7684\u4ee5\u53ca\u9664\u4e865\u53f7\u67d3\u8272\u4f53\u4e4b\u5916\u8fd8\u6d89\u53ca\u67d3\u8272\u4f53\u91cd\u6392\u3002\u56e0\u6b64\uff0c\u4f7f\u7528\u63d0\u4f9b\u5168\u57fa\u56e0\u7ec4\u6570\u636e\u7684\u9635\u5217\u5bf937\u4f8b\u60a3\u8005\u8fdb\u884c\u5206\u6790\u3002\u4e0e\u4e00\u822c\u8d8b\u52bf\u76f8\u6bd4\uff0c\u8fd9\u4e9b\u75c5\u4f8b\u662f\u7531\u4e8e5p\u7f3a\u5931\u592a\u5c0f\u800c\u4e0d\u80fd\u89e3\u91ca\u5ef6\u8fdf\u6c34\u5e73\u7684\u6240\u6709\u75c5\u4f8b\u52a0\u4e0a\u4e0e\u8d8b\u52bf\u5339\u914d\u7684\u51e0\u4e4e\u76f8\u540c\u6570\u91cf\u7684\u75c5\u4f8b\u3002\u89c2\u5bdf\u5230\u4e25\u91cd\u5ef6\u8fdf\u548c\u8f7b\u5fae5 p\u7f3a\u5931\u7684\u53d7\u8bd5\u8005\u5747\u89c2\u5bdf\u5230\u989d\u5916\u7684\u589e\u52a0\u548c\u51cf\u5c11 (\u4f8b\u598245\u540d\u60a3\u8005 [\u5982<a href=\"#figure_1\">\u56fe1C<\/a>\u6240\u793a])\u3002<br>\u5bf9\u7279\u5b9a\u8868\u578b\u7684\u5f71\u54cd\u4e0d\u662f\u7531\u4efb\u4f55\u8fd9\u4e9b\u989d\u5916\u7684\u5f02\u5e38\u5f15\u8d77\u7684\u3002\u53d1\u73b0\u5f02\u5e38\u7684\u53d7\u8bd5\u8005\u7684\u8be6\u7ec6\u60c5\u51b5\u5982\u3092<a href=\"#table_4\">\u88684<\/a>\u6240\u793a\u3002\u7531\u4e8e\u8fd9\u4e9b\u6d4b\u91cf\u4f7f\u7528\u5177\u6709\u8fdb\u5316\u514b\u9686\u7ec4\u6210\u7684\u9635\u5217\uff0c\u56e0\u6b64\u5b9a\u4e49\u9644\u52a0\u50cf\u5dee\u8fb9\u754c\u7684\u7cbe\u5ea6\u662f\u53ef\u53d8\u7684\u3002\u7136\u800c\uff0c\u663e\u800c\u6613\u89c1\u7684\u662f\uff0c\u8fd9\u4e9b\u5f02\u5e38\u901a\u5e38\u5305\u62ec\u81f3\u5c11\u4e00\u4e9b\u8fde\u7eed\u7684\u5e8f\u5217\u5143\u7d20\uff0c\u5e76\u4e14\u660e\u663e\u5927\u4e8e\u975e\u53d7\u7d2f\u8005\u7684\u62f7\u8d1d\u6570\u591a\u6001\u6027(Albertson\u548cPinkel 2003;Iafrate et al.2004;Sebatet al.2004)\u3002<br>\u8fd9\u4e9b\u590d\u6742\u4f8b\u5b50\u4e2d\u7684\u4e00\u4e9b\u5305\u62ec\u5f71\u54cd\u7b2c\u4e94\u67d3\u8272\u4f53\u7684\u5176\u5b83\u5f02\u5e38,\u6240\u8ff0\u7b2c\u4e94\u67d3\u8272\u4f53\u5305\u62ec\u4f4d\u4e8e\u7f3a\u5931\u8fb9\u754c\u8fd1\u7aef\u7684\u4e00\u4e9b\u91cd\u53e0\u7269\u8d28\u3002 <a href=\"#figure_2\">\u56fe2B<\/a>\u793a\u51fa\u4e86\u5177\u67095p\u7f3a\u5931\u4e14\u672a\u68c0\u6d4b\u5230\u5176\u4ed6\u5f02\u5e38\u7684\u6240\u6709\u60a3\u8005\u7684\u7f3a\u5931\u4e0eMR\u6c34\u5e73\u4e4b\u95f4\u7684\u5173\u7cfb\u3002MR\u7684\u4e25\u91cd\u7a0b\u5ea6\u4e0e\u7f3a\u5931\u7684\u5927\u5c0f\u548c\u4f4d\u7f6e\u4e4b\u95f4\u7684\u5173\u7cfb\u73b0\u5728\u66f4\u52a0\u4e00\u81f4\u3002<\/p>\n<h4><span class=\"ez-toc-section\" id=\"%E5%BD%B1%E5%93%8D%E5%93%AD%E5%A3%B0%EF%BC%8C%E5%A3%B0%E9%9F%B3%E5%BB%B6%E8%BF%9F%E5%92%8C%E9%9D%A2%E9%83%A8%E5%BD%A2%E6%80%81%E5%BC%82%E5%B8%B8%E7%9A%84%E6%9F%93%E8%89%B2%E4%BD%93%E5%8C%BA%E5%9F%9F\"><\/span>\u5f71\u54cd\u54ed\u58f0\uff0c\u58f0\u97f3\u5ef6\u8fdf\u548c\u9762\u90e8\u5f62\u6001\u5f02\u5e38\u7684\u67d3\u8272\u4f53\u533a\u57df<span class=\"ez-toc-section-end\"><\/span><\/h4>\n<p>\u5f71\u54cd\u54ed\u58f0\u3001\u53d1\u58f0\u548c\u9762\u90e8\u7279\u5f81\u7684\u67d3\u8272\u4f53\u533a\u57df\u5148\u524d\u6620\u5c04\u52305p\u7684\u8fdc\u7aef\u90e8\u5206(Overhauser et al.1994;Gersh et al.1995\u30011997)\u3002\n<br><a href=\"#figure_3\">\u56fe3<\/a>\u793a\u51fa\u4e86\u5177\u6709\u7f3a\u5931\u8fb9\u754c\u7684\u53d7\u8bd5\u8005\u7684\u6570\u636e\uff0c\u6240\u8ff0\u7f3a\u5931\u8fb9\u754c\u63d0\u4f9b\u5173\u4e8e\u8fd9\u4e9b\u57fa\u56e0\u578b\u548c\u8868\u578b\u4e4b\u95f4\u5173\u7cfb\u7684\u4fe1\u606f\u3002\u5728\u6bcf\u79cd\u60c5\u51b5\u4e0b\uff0c\u6307\u5b9a\u8fb9\u754c\u4e0a\u7684\u514b\u9686\u4f53\u3002\u5f71\u54cd\u7279\u5f81\u6027\u54ed\u58f0\u7684\u533a\u57df\u6700\u7a84\u5730\u5b9a\u4e49\u4e3a\u60a3\u800549\u548c252\u4e2d\u7684\u5dee\u5f02\uff0c\u4e24\u8005\u90fd\u5177\u6709\u95f4\u8d28\u6027\u7f3a\u5931\u3002\u5bf9\u4e8e\u60a3\u6709cry\u7684\u60a3\u800549\u800c\u8a00\uff0c\u7f3a\u5931\u53ef\u4ece\u514b\u9686\u4f5312\u7684\u8fd1\u7aef\u5f00\u59cb,\u800c\u5bf9\u4e8e\u672a\u60a3\u6709cry\u7684\u60a3\u8005252,\u7f3a\u5931\u53ef\u4fdd\u7559\u81f3\u514b\u9686\u4f5314\u7684\u5e8f\u5217\u3002\u56e0\u6b64\uff0c\u53c2\u4e0e\u8be5\u8868\u578b\u7684\u67d3\u8272\u4f53\u533a\u57df\u4f4d\u4e8e\u8fd9\u4e9b\u514b\u9686\u4e4b\u95f4\u76841.5 Mb\u533a\u57df\u3002<\/p>\n<p>\u5f71\u54cd\u7279\u5f81\u9762\u90e8\u7279\u5f81\u7684\u533a\u57df\u7531\u60a3\u8005117\u3001202\u548c114\u5b9a\u4e49\u5f97\u6700\u7a84\u3002\u60a3\u8005117\u5177\u6709\u5728\u514b\u9686\u4f5317\u548c18\u4e4b\u95f4\u5f00\u59cb\u7684\u672b\u7aef\u7f3a\u5931,\u4e14\u4e0d\u5177\u6709\u9762\u90e8\u8868\u578b\u3002\u56e0\u6b64\uff0c\u5173\u952e\u533a\u57df\u5fc5\u987b\u4f4d\u4e8e\u514b\u9686\u4f5317\u7684\u8fd1\u7aef\u3002\u8fd9\u662f\u56e0\u4e3a\u6750\u6599\u53ef\u4ee5\u4fdd\u6301\u5230\u8fd9\u4e2a\u4f4d\u7f6e\u3002\u60a3\u8005202\u5177\u6709\u8f83\u5927\u7684\u672b\u7aef\u7f3a\u5931\uff0c\u5728\u514b\u9686\u4f5326\u548c27\u4e4b\u95f4\u5177\u6709\u8fb9\u754c,\u5e76\u4e14\u5177\u6709\u8868\u578b\u3002\u8fd9\u5c06\u514b\u9686\u4f5317\u548c27\u4e4b\u95f4\u76842.4-Mb\u533a\u57df\u5b9a\u4e49\u4e3a\u8d1f\u8d23\u9762\u90e8\u7279\u5f81\u7684\u533a\u57df\u3002\u60a3\u8005114\u652f\u6301\u8be5\u533a\u57df\u7684\u8fd1\u7aef\u9650\u5236\u3002\u60a3\u8005114\u5177\u6709\u95f4\u8d28\u6027\u7f3a\u5931\u5e76\u4e14\u5177\u6709\u5728\u514b\u9686\u4f5326\u548c27\u4e4b\u95f4\u7684\u8fdc\u7aef\u8fb9\u754c,\u5e76\u4e14\u4e0d\u5177\u6709\u8868\u578b,\u5e76\u4e14\u8be5\u8868\u578b\u7684\u5173\u952e\u4f4d\u7f6e\u4f4d\u4e8e\u514b\u9686\u4f5327\u7684\u8fdc\u7aef\u3002\u672c\u53d1\u660e\u4eba\u6ce8\u610f\u5230\uff0c\u5177\u6709\u5305\u62ec\u6240\u63d0\u51fa\u7684\u4e34\u754c\u533a\u57df\u7684\u7f3a\u5931\u7684\u60a3\u8005252\u662f\u4e0d\u4e00\u81f4\u7684\uff0c\u56e0\u4e3a\u60a3\u8005\u4e0d\u5177\u6709\u8868\u578b\u3002<\/p>\n<p>\u6d89\u53ca\u8a00\u8bed\u5ef6\u8fdf\u7684\u67d3\u8272\u4f53\u533a\u57df\u6700\u597d\u7531102\u3001225\u548c49\u60a3\u6709\u95f4\u8d28\u6027\u7f3a\u5931\u7684\u60a3\u8005\u7684\u6570\u636e\u5b9a\u4e49\u3002\u5728\u5177\u6709\u8868\u578b\u7684\u60a3\u8005102\u548c225\u4e2d\uff0c\u7f3a\u5931\u63a5\u8fd1\u514b\u9686\u4f534\u3002\u5728\u6ca1\u6709\u8868\u578b\u7684\u60a3\u800549\u4e2d\uff0c\u67d3\u8272\u4f53\u7684\u8fdc\u7aef\u90e8\u5206\u53ef\u4ee5\u4fdd\u7559\u81f3\u514b\u9686\u4f5313\u3002\u56e0\u6b64\uff0c\u58f0\u97f3\u5ef6\u8fdf\u662f\u7531\u4e8e\u514b\u9686\u4f534\u548c13\u4e4b\u95f4\u76843.2-Mb\u533a\u57df\u4e2d\u7684\u7f3a\u5931\u3002<\/p>\n<\/section>\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>\u5efa\u7acb\u53d1\u75c5\u7efc\u5408\u5f81\u60a3\u8005\u57fa\u56e0\u578b\u548c\u8868\u578b\u4e4b\u95f4\u7684\u5173\u7cfb\u662f\u53d1\u73b0\u5bfc\u81f4\u75c7\u72b6\u7684\u9057\u4f20\u673a\u5236\u7684\u7b2c\u4e00\u6b65\uff0c\u5e76\u4e3a\u4e34\u5e8a\u7ba1\u7406\u60a3\u8005\u75be\u75c5\u63d0\u4f9b\u57fa\u7840\u3002\u8bb8\u591a\u5173\u4e8e\u5bfc\u81f4\u732b\u53eb\u7efc\u5408\u75c7\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u5148\u524d\u7814\u7a76\u5df2\u7ecf\u5efa\u7acb\u4e86\u8fd9\u79cd\u5173\u7cfb\u7684\u6982\u8ff0\uff0c\u5982<a href=\"#figure_2\">\u56fe4<\/a>\u6240\u793a\u3002\u5df2\u7ecf\u5b9a\u4e49\u4e86\u67d3\u8272\u4f535p\u4e0a\u7684\u51e0\u4e2a\u533a\u57df\uff0c\u8fd9\u4e9b\u533a\u57df\u5206\u522b\u5f71\u54cd\u7ecf\u5178\u8868\u578b\u7684\u4e0d\u540c\u6210\u5206\uff0c\u5176\u4e2d1\u4e2a5p 15.2\u5bf9MR\u6709\u5f88\u5f3a\u7684\u5f71\u54cd\uff0c\u88ab\u79f0\u4e3a \u300c\u5173\u952e\u58f0\u97f3\u4e34\u754c\u533a\u57df\u300d (CdCCR) ,\u5176\u4ed6\u4e0e\u7279\u5f81\u54ed\u58f0,\u8bed\u8a00\u5ef6\u8fdf,\u9762\u90e8\u7279\u5f81\u6709\u5173\u3002\u7136\u800c\uff0c\u5404\u79cd\u7814\u7a76\u4e4b\u95f4\u5b58\u5728\u663e\u7740\u5dee\u5f02\uff0c\u5305\u62ecMR\u548c\u7f3a\u5931\u4e4b\u95f4\u5173\u7cfb\u7684\u8ba8\u8bba\u3002\u672c\u7814\u7a76\u4f7f\u7528\u9635\u5217CGH\u5bf9\u7cbe\u5fc3\u8bc4\u4f30\u8868\u578b\u7684\u60a3\u8005\u7ec4\u7684DNA\u62f7\u8d1d\u6570\u53d8\u5316\u8fdb\u884c\u4e86\u6709\u6548\u7684\u9ad8\u5206\u8fa8\u7387\u5206\u6790\uff0c\u63d0\u4f9b\u4e86\u6709\u5173\u8868\u578b\u7279\u5b9a\u65b9\u9762\u7684\u66f4\u51c6\u786e\u4fe1\u606f\uff0c\u5e76\u63ed\u793a\u4e86\u4e00\u4e9b\u6709\u4e89\u8bae\u7684\u95ee\u9898\u3002<\/p>\n<p>\u5f88\u96be\u786e\u5b9a\u7f3a\u5931\u5927\u5c0f\u4e0eMR\u4e4b\u95f4\u7684\u5173\u7cfb\uff0c\u5e76\u4e14\u4e00\u4e9b\u7814\u7a76\u8868\u660e\uff0c\u968f\u7740\u7f3a\u5931\u5927\u5c0f\u7684\u589e\u52a0\uff0c\u5f71\u54cd\u7684\u4e25\u91cd\u6027\u9010\u6e10\u589e\u52a0 (Mainardi\u7b49\u4eba\u57282001\u5e74\u6ca1\u6709\u53d1\u73b0\u8fd9\u79cd\u5173\u7cfb(Marinescu et al.1999 a)\u3002<br>\u5728\u8fd9\u9879\u7814\u7a76\u4e2d,\u5728\u6d4b\u91cf (Niebuhr1978a,1978b;Overhauser\u7b49) \u4e4b\u524d\u7684\u8bb8\u591a\u5e74,\u7531\u5355\u4e00\u89c2\u5bdf\u8005 (E.N.) \u4ee5\u4e00\u81f4\u7684\u65b9\u5f0f\u5728\u6570\u503c\u5c3a\u5ea6\u4e0a\u8bc4\u4f30MR\u72b6\u6001\u5206\u6790\u4e86\u4e00\u7cfb\u5217\u60a3\u8005\u30021990\u5e74\uff0c Kjaer\u548cNiebuhr 1999\u5e74\u3002<br>\u7531\u4e8e\u5ef6\u8fdf\u7684\u8bc4\u4f30\u53ef\u80fd\u53d6\u51b3\u4e8e\u60a3\u8005\u7684\u5e74\u9f84\uff0c\u56e0\u6b64\u6211\u4eec\u4ec5\u9488\u5bf95\u5c81\u6216\u4ee5\u4e0a\u7684\u60a3\u8005\u8fdb\u884c\u8bc4\u4f30\u3002\u7531\u4e8e\u6240\u6709\u5206\u6790\u90fd\u4f7f\u7528\u4ece\u5916\u5468\u8840\u5206\u79bb\u7684DNA\u800c\u4e0d\u662fEB\u75c5\u6bd2\u8f6c\u5316\u7ec6\u80de\u7cfb\uff0c\u56e0\u6b64\u8f6c\u5316\u8bf1\u5bfc\u7684\u5f02\u5e38\u4e0d\u4f1a\u5e72\u6270\u6211\u65b9\u7684\u7ed3\u679c\u3002<\/p>\n<p><a href=\"#figure_2\">\u56fe2A<\/a>\u8868\u793a5p\u7684\u7f3a\u5931\u4e0eMR\u6c34\u5e73\u7684\u5173\u7cfb\u3002\u5f88\u660e\u663e\uff0c MR\u6c34\u5e73\u9ad8\u8fbe\u7ea63\u7684\u60a3\u8005\u7684\u7f3a\u5931\u5c0f\u4e8eMR\u6c34\u5e735\u6216\u66f4\u9ad8\u7684\u60a3\u8005\uff0c\u4f46\u5ef6\u8fdf\u5bf9\u7f3a\u5931\u5927\u5c0f\u7684\u4f9d\u8d56\u6027\u4f3c\u4e4e\u8f83\u5f31\u3002\u4f8b\u5982\uff0c\u5728MR\u6c34\u5e735\u6216\u66f4\u9ad8\u65f6\uff0c\u7531\u4e8e\u4e0d\u540c\u5ef6\u8fdf\u6c34\u5e73\u4e4b\u95f4\u7684\u7f3a\u5931\u8303\u56f4\u51e0\u4e4e\u5b8c\u5168\u91cd\u53e0\uff0c\u56e0\u6b64\u5177\u6709-5\u7ea7MR\u7684\u8bb8\u591a\u60a3\u8005\u5177\u6709\u4e0e\u5177\u6709-7\u7ea7MR\u7684\u60a3\u8005\u7c7b\u4f3c\u76845 p\u7f3a\u5931\u3002\u6b64\u5916\uff0c\u8fd8\u6709\u4e00\u4e9b\u660e\u663e\u7684\u5206\u6b67\u3002\u60a3\u8005112\u548c114\u5177\u6709\u7ea610 Mb\u7684\u95f4\u8d28\u6027\u7f3a\u5931\uff0c MR\u6c34\u5e73\u4e3a1~2;\u7136\u800c\uff0c\u4e25\u91cd\u53d7\u7d2f\u7684\u60a3\u800545\u5728\u76f8\u540c\u533a\u57df\u5177\u6709\u5c0f\u5f97\u591a\u7684\u95f4\u8d28\u6027\u7f3a\u5931\u3002<\/p>\n<p>\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u5148\u524d\u8868\u660e\uff0c\u5728\u4e00\u4e9b\u732b\u53eb\u7efc\u5408\u75c7\u60a3\u8005\u4e2d\uff0c\u53d1\u73b0\u590d\u6742\u7684\u67d3\u8272\u4f53\u91cd\u6392\uff0c\u6d89\u53ca\u57fa\u56e0\u7ec4\u7684\u5176\u4ed6\u533a\u57df\u7684\u590d\u5236\u5f02\u5e38\u3002\u56e0\u6b64\uff0c\u4f5c\u8005\u5bf937\u540d\u60a3\u8005\u8fdb\u884c\u4e86\u5168\u57fa\u56e0\u7ec4\u9635\u5217CGH,\u5305\u62ec\u6240\u6709\u56e05p\u7f3a\u5931\u592a\u5c0f\u800c\u65e0\u6cd5\u89e3\u91ca\u5ef6\u8fdf\u6c34\u5e73\u7684\u60a3\u8005\u3002\u5982 <a href=\"#table_4\">\u88684<\/a>\u6240\u793a\uff0c\u5728\u8fd9\u4e9b\u60a3\u8005\u4e2d\u768415\u4f8b\u4e2d\uff0c\u9664\u4e865 p\u7f3a\u5931\u4e4b\u5916\u8fd8\u89c2\u5bdf\u5230\u5f02\u5e38\u3002\u7814\u7a76\u7ed3\u679c\u8868\u660e,\u5927\u90e8\u5206 (14\/22) \u660e\u663e\u5ef6\u8fdf\u7684\u53d7\u8bd5\u8005\u96645 p\u7f3a\u5931\u5916\u8fd8\u6709\u5f02\u5e38\u3002\u5982\u679c\u5c06\u6ce8\u610f\u529b\u8f6c\u79fb\u5230\u5176\u4e2d\u552f\u4e00\u68c0\u6d4b\u5230\u7684\u5f02\u5e38\u7f3a\u5931\u4e3a5p\u7684\u53d7\u8bd5\u8005,\u5219\u5ef6\u8fdf\u5bf9\u7f3a\u5931\u5927\u5c0f\u548c\u4f4d\u7f6e\u7684\u4f9d\u8d56\u6027\u5c06\u66f4\u52a0\u660e\u663e\u3002<a href=\"#figure_2\">\u56fe2B<\/a>\u793a\u51fa\u4e86\u5bf9\u4e8e\u5ef6\u8fdf\u6c34\u5e733.5\u6216\u66f4\u9ad8\uff0c\u968f\u7740\u7f3a\u5931\u5927\u5c0f\u7684\u589e\u52a0\uff0c\u5ef6\u8fdf\u5355\u8c03\u5730\u589e\u52a0\u3002 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Mb\u7684\u8fd1\u7aef\uff0c\u8fd9\u53ef\u80fd\u8868\u660e\u8fd9\u79cd\u7f3a\u5931\u5728\u53d1\u5c55\u8fc7\u7a0b\u4e2d\u662f\u81f4\u547d\u7684\u3002<\/p>\n<p>\u4e0e\u6807\u51c6\u7ec6\u80de\u9057\u4f20\u5b66\u76f8\u6bd4\uff0c\u9635\u5217CGH\u63d0\u4f9b\u4e86\u66f4\u5b8c\u6574\u7684\u57fa\u56e0\u7ec4\u8bc4\u4f30\u3002\u603b\u4f53\u800c\u8a00\uff0c\u5927\u7ea616%\u7684\u53d7\u8bd5\u8005\u89c2\u5bdf\u5230\u590d\u6742\u7684\u5f02\u5e38\uff0c\u7565\u5927\u4e8e\u5148\u524d\u6d4b\u8bd5\u768412%~13% (Niebuhr1978a;Mainardi et al.) \u30022001) .<br>\u5728\u9635\u5217CGH (\u4f8b\uff0c\u60a3\u8005206)\u4e2d\u89c2\u5bdf\u5230\u65b0\u7684\u5242\u91cf\u5f02\u5e38\u7684\u8bb8\u591a (\u4e0d\u662f\u6240\u6709) \u53d7\u8bd5\u8005\u4e2d\u89c2\u5bdf\u5230\u7ec6\u80de\u9057\u4f20\u5b66\u68c0\u6d4b\u7684\u7ed3\u6784\u5f02\u5e38\uff0c\u5305\u62ec5\u53f7\u67d3\u8272\u4f53\u548c\u5176\u4ed6\u67d3\u8272\u4f53(<a href=\"#table_1\">\u88681<\/a>)\u3002<br>\u76f8\u53cd\uff0c\u5728\u5177\u6709\u67d3\u8272\u4f53\u95f4\u7ec6\u80de\u9057\u4f20\u5b66\u5f02\u5e38\u7684\u4e00\u90e8\u5206\u53d7\u8bd5\u8005(\u4f8b\u5982\uff0c\u60a3\u80054\u548c49)\u4e2d\uff0c\u9664\u4e86\u67d3\u8272\u4f535p\u4ee5\u5916\uff0c\u672a\u89c2\u5bdf\u5230\u590d\u5236\u6570\u7684\u53d8\u5316\u3002\n<br>\u56e0\u6b64\uff0c\u9635\u5217CGH\u7684\u8f83\u9ad8\u5206\u8fa8\u7387\u548c\u6548\u7387\u5bf9\u4e8e\u8bc4\u4f30\u732b\u53eb\u7efc\u5408\u75c7\u4e2d\u7684\u5242\u91cf\u5f02\u5e38\u5177\u6709\u91cd\u8981\u7684\u4f18\u70b9\uff0c\u5e76\u4e14\u5bf9\u4e8e\u7279\u522b\u4e25\u91cd\u7684\u5ef6\u8fdf\u60a3\u8005\u5177\u6709\u660e\u663e\u7684\u8bca\u65ad\u4f18\u70b9\uff0c\u5176\u4e2d\u7ea62\/3\u5177\u6709\u4e2d\u5ea65p\u7f3a\u5931\u548c\u989d\u5916\u7684\u5f02\u5e38\u3002<\/p>\n<p>\u5982<a href=\"#figure_2\">\u56fe2B<\/a>\u6240\u793a\uff0c MR\u4f9d\u8d56\u4e8e5p\u7f3a\u5931\uff0c\u8fd9\u8868\u660e\u5b58\u5728\u5bf9\u8be5\u8868\u578b\u5177\u6709\u4e0d\u540c\u5f71\u54cd\u7684\u4e09\u4e2a\u67d3\u8272\u4f53\u533a\u57df\u3002\u521d\u59cbMRI\u5305\u62ec\u6240\u6709\u5ef6\u8fdf\u6c34\u5e73\u4e3a2.5\u6216\u66f4\u9ad8\u7684\u60a3\u8005\u7684\u7f3a\u5931\u3002\u60a3\u8005117\u548c56\u7684\u53d1\u73b0\u8868\u660eMRI\u53ef\u80fd\u5c40\u9650\u4e8e5p 15.31\u7684\u514b\u968615\u548c18\u4e4b\u95f4\u76841.2-Mb\u533a\u57df\uff0c\u5982\u5176\u4ed6\u6587\u732e\u4e2d\u6240\u5b9a\u4e49\uff0c\u5176\u4f4d\u4e8e5p 15.2\u7684CdCCR\u672b\u7aef(Overhauser et al.1994;Mainardi et al.2001)\u3002<br>\u76ee\u524d\u5c1a\u4e0d\u6e05\u695aMRI\u4e2d\u6709\u591a\u5c11\u91cd\u8981\u57fa\u56e0\uff0c\u4f46\u7531\u4e8e\u5176\u5927\u5c0f\u6709\u9650\uff0c\u56e0\u6b64\u8868\u660e\u53ef\u80fd\u5f88\u5c11\u3002<\/p>\n<p>\u5982<a href=\"#figure_2\">\u56fe2B<\/a>\u6240\u793a\uff0c\u5176\u4ed6\u4e24\u4e2a\u533a\u57dfMRII\u548cMRIII\u7d27\u90bbMRI\u3002\u4ec5\u9650\u4e8eMRII\u7684\u7f3a\u5931\u5177\u6709\u8f7b\u5ea6\u5f71\u54cd\uff0c\u800c\u4ec5\u5f71\u54cdMRIII\u7684\u7f3a\u5931(\u4f8b\uff0c\u60a3\u800551)\u4e0d\u4f1a\u4ea7\u751f\u53ef\u8bc6\u522b\u7684\u8868\u578b\u3002\u7136\u800c\uff0c\u5177\u6709\u5305\u62ecMRI\u7684\u7f3a\u5931\u7684\u60a3\u8005\u968f\u7740\u7f3a\u5931\u5ef6\u4f38\u5230MRII\u548cMRIII\u800c\u9010\u6e10\u4e25\u91cd\u5ef6\u8fdf\u3002\u56e0\u6b64\uff0c MRII\u548cMRIII\u4e2d\u7684\u4e00\u7cfb\u5217\u57fa\u56e0\u4f3c\u4e4e\u5bf9\u8868\u578b\u6709\u8d21\u732e\uff0c\u53ef\u80fd\u662f\u901a\u8fc7\u4fee\u9970MRI\u4e2d\u7684\u57fa\u56e0\u6548\u5e94\u3002<\/p>\n<p>\u5f53\u7136\uff0c\u8fd9\u4e9b\u8fb9\u754c\u7684\u5b9a\u4e49\u53d6\u51b3\u4e8e\u662f\u5426\u91c7\u7528\u57fa\u7840\u6a21\u578b\uff0c\u8be5\u6a21\u578b\u66b4\u9732\u4e8e\u4e00\u4e9b\u4e0d\u786e\u5b9a\u6027\uff0c\u5e76\u4e14\u7f3a\u5931\u5982\u4f55\u5f71\u54cdMR\u3002\u57fa\u672c\u4e0a,\u672c\u6a21\u578b\u5728MRI\u4e2d\u8d77\u4e3b\u5bfc\u4f5c\u7528, MRII\u548cMRIII\u4e2d\u7684\u8fdb\u4e00\u6b65\u5f02\u5e38\u5c06\u663e\u7740\u589e\u52a0\u8868\u578b\u7684\u4e25\u91cd\u7a0b\u5ea6\u3002MRI\u7684\u8fdc\u4fa7\u8fb9\u754c\u662f\u7531\u4ee5\u4e0b\u4e8b\u5b9e\u8bbe\u5b9a\u7684:\u6bd4\u514b\u968615\u66f4\u8fdc\u7684\u57fa\u56e0\u7684\u7f3a\u5931\u6216\u4fdd\u7559\u5bf9\u6211\u4eec\u60a3\u8005\u7684MR\u6c34\u5e73\u6ca1\u6709\u660e\u663e\u5f71\u54cd\u3002\u7136\u800c\uff0c\u5728MRI\u7684\u8fdc\u7aef\u533a\u57df\u6ca1\u6709\u5c40\u90e8\u7f3a\u5931\u7684\u60a3\u8005,\u5e76\u4e14\u4e0d\u80fd\u7edd\u5bf9\u5730\u786e\u8ba4\u3002\u7f3a\u5931\u53ef\u80fd\u8868\u660e\u7531\u4e8e\u7f3a\u4e4fMR\u8868\u578b\u800c\u7f3a\u4e4f\u786e\u8ba4\uff0c\u4f46\u662f\u8fd9\u6837\u7684\u4e2a\u4f53\u5c06\u671f\u671b\u5177\u6709\u732b\u53eb\u7efc\u5408\u75c7\u7684\u5176\u4ed6\u7279\u5f81\u3002<\/p>\n<p>\u5efa\u7acbMRI\u7684\u8fd1\u7aef\u8fb9\u754c\u66f4\u6709\u95ee\u9898\u3002<br>\u4ee5\u4e0a\uff0c\u901a\u8fc7\u4f7f\u7528\u60a3\u8005117\u7684\u8fb9\u754c,\u793a\u51fa\u4e86\u4e0e\u6570\u636e\u4e00\u81f4\u7684\u6700\u5c0f\u53ef\u80fd\u533a\u57df\u7684\u9009\u62e9\u3002\u7136\u800c\uff0c\u5728\u8f83\u4e0d\u4e25\u91cd\u4e14\u5177\u6709\u8f83\u4e25\u91cd\u5ef6\u8fdf\u6c34\u5e73\u7684\u5176\u4ed6\u53d7\u8bd5\u8005\u4e2d\uff0c\u89c2\u5bdf\u5230\u7a0d\u5927\u7684\u7f3a\u5931\uff0c\u5e76\u4e14\u5728\u514b\u9686\u4f5326~28\u9644\u8fd1\u89c2\u5bdf\u5230\u5207\u5272\u70b9\u7c07\u533a\u57df\u7684\u8fb9\u754c\u3002\u56e0\u6b64\uff0c\u60a3\u8005117\u5728\u67d0\u79cd\u7a0b\u5ea6\u4e0a\u662f\u4e0d\u6b63\u5e38\u7684\uff0c\u56e0\u6b64MRI\u53ef\u4ee5\u76f8\u5bf9\u4e8e\u514b\u9686\u4f5328\u8fdb\u4e00\u6b65\u5411\u8fdc\u7aef\u5ef6\u4f382Mb\u3002\u4e3a\u4e86\u66f4\u6e05\u695a\u5730\u5b9a\u4e49\u8be5\u533a\u57df\uff0c\u6709\u5fc5\u8981\u5206\u6790\u5177\u6709\u5145\u5206\u8868\u5f81\u7684\u8868\u578b\u7684\u8bb8\u591a\u9644\u52a0\u75c5\u4f8b\u3002<\/p>\n<p>\u4ec5\u9650\u4e8eMRII\u548cMRIII\u7684\u7f3a\u5931\u5bfc\u81f4\u8f7b\u5ea6\u60a3\u75c5\u6216\u8868\u578b\u6b63\u5e38\u7684\u4e2a\u4f53\u3002\u7136\u800c\uff0c\u76f8\u5bf9\u6b63\u5e38\u7684\u8868\u578b\u4f3c\u4e4e\u662f\u300c\u8106\u5f31\u7684\u300d\u3002\u56e0\u4e3a\u5176\u4ed6\u5f02\u5e38\u5bfc\u81f4\u4e25\u91cd\u7684\u8868\u578b\u3002<br>\u8fd9\u4e9b\u989d\u5916\u7684\u5f02\u5e38\u5305\u62ec\u5982\u4e0a\u6240\u8ff0\u7684MRI\u7684\u7f3a\u5931\u548c\/\u6216\u5728\u7b2c\u4e94\u67d3\u8272\u4f53(\u5bf9\u4e8e\u60a3\u800525\u300148\u3001104\u3001201\u548c251)\u6216\u5176\u4ed6\u67d3\u8272\u4f53(<a href=\"#table_4\">\u88684<\/a>)\u4e0a\u7684\u5176\u4ed6\u90e8\u4f4d\u7684\u589e\u52a0\u6216\u51cf\u5c11\u3002<br>\u4f8b\u5982\uff0c\u660e\u663e\u5ef6\u8fdf\u7684\u60a3\u800545\u57285p\u7684MRII\u4e2d\u4ec5\u6709\u5c11\u91cf\u7f3a\u5931\uff0c\u8fd9\u5c06\u5bfc\u81f4\u975e\u5e38\u8f7b\u5fae\u7684\u5ef6\u8fdf\u3002\u56e0\u6b64\uff0c6q\u7684\u989d\u5916\u7f3a\u5931 (<a href=\"#figure_1\">\u56fe1C<\/a>)\u53ef\u80fd\u5bfc\u81f4\u975e\u5e38\u4e25\u91cd\u7684MR\u8868\u578b\u3002\u6ce8\u610f\u5230MRII\u548cMRIII\u7684\u589e\u52a0\u53ef\u80fd\u4f1a\u5f71\u54cd\u8868\u578b\u3002\u5728MR\u6c34\u5e736.5\u7684\u60a3\u800548\u7f3a\u5c11\u4e0e\u5ef6\u8fdf\u6c34\u5e734~5\u4e00\u81f4\u7684MRII\u548cMRIII\u7684\u4e00\u90e8\u5206\u3002\u8fd9\u6837\uff0c MRII\u548cMRIII\u7684\u4e00\u4e9b\u91cd\u53e0 (\u5728\u7f3a\u5931\u8fb9\u754c) \u5177\u6709\u5f88\u5f3a\u7684\u6548\u5e94\u3002<\/p>\n<p>\u5bb6\u65cf\u6570\u636e\u8fd8\u663e\u793aMRIII\u7f3a\u5931\u4e2a\u4f53\u7684\u6b63\u5e38\u8868\u578b\u8106\u5f31\u6027\u3002\u4f8b\u5982\uff0c\u60a3\u800551\u4e2d\u7684\u7f3a\u5931\u5b58\u5728\u4e8e\u6bcd\u4eb2\u548c\u7956\u7236\u6bcd\u4e2d\uff0c\u5e76\u4e14\u6240\u67093\u4e2a\u90fd\u4e0d\u53d7\u5f71\u54cd\u3002\u7136\u800c\uff0c\u6709\u62a5\u9053\u79f0\u60a3\u6709MRIII\u7f3a\u5931\u7684\u672a\u60a3\u75c5\u7236\u6bcd\u53ef\u80fd\u60a3\u6709\u9057\u4f20\u7f3a\u5931\u7684\u60a3\u75c5\u513f\u7ae5(Hand et al.2000, Johnson et al.2000)\u3002<br>\u8fd9\u79cd\u8868\u578b\u53d8\u5316\u53ef\u80fd\u8868\u660e\uff0c\u5bf9\u5177\u6709\u6b63\u5e38\u57fa\u56e0\u7ec4\u7684\u4eba\u6ca1\u6709\u6709\u5bb3\u5f71\u54cd\u7684\u73af\u5883\u6216\u9057\u4f20\u4fee\u9970\u56e0\u5b50\u5c06\u5bf9\u5177\u6709MRIII\u7f3a\u5931\u7684\u4eba\u4ea7\u751f\u4e25\u91cd\u540e\u679c\u3002\u6216\u8005\uff0c\u53d7\u5f71\u54cd\u7684\u513f\u7ae5\u53ef\u80fd\u5177\u6709\u5728\u8fd9\u4e9b\u7814\u7a76\u6240\u91c7\u7528\u7684\u6280\u672f\u4e2d\u672a\u80fd\u68c0\u6d4b\u5230\u7684\u8fdb\u4e00\u6b65\u7684\u5f02\u5e38\u3002\u9ad8\u5206\u8fa8\u7387\u5168\u57fa\u56e0\u7ec4\u9635\u5217CGH\u53ef\u80fd\u68c0\u6d4b\u5230\u8fd9\u79cd\u5f02\u5e38\u5e76\u53d1\u73b0\u8fd9\u79cd\u513f\u7ae5\u7684\u57fa\u56e0\u578b\u72b6\u6001\u3002<\/p>\n<p>\u672c\u7814\u7a76\u8fd8\u63d0\u4f9b\u4e86\u67d3\u8272\u4f535p\u4e0a\u533a\u57df\u7684\u6539\u5584\u5b9a\u4f4d,\u8fd9\u4f1a\u5f71\u54cd\u7279\u5f81\u6027\u54ed\u6ce3,\u9762\u90e8\u7279\u5f81\u548c\u58f0\u97f3\u5ef6\u8fdf\u3002\u5728cry\u533a\u57df\u4e2d,\u901a\u8fc7\u4ec5\u7f3a\u59311\u4e2a\u514b\u9686\u4f53\u6765\u533a\u5206\u5177\u6709\u8868\u578b\u548c\u4e0d\u5177\u6709\u8868\u578b\u7684\u60a3\u8005\u3002\u8fd9\u4f7f\u5f97\u53ef\u80fd\u7684\u5173\u952e\u57fa\u56e0\u4f4d\u4e8e\u4e24\u4e2a\u4fa7\u7ffc\u514b\u9686\u4f53 (\u5206\u522b\u5305\u62ec\u6807\u8bb0\u7269D5S2054\u548cD5S676) \u4e4b\u95f4\u7684\u9635\u5217\u4e0a\u3002\u56e0\u6b64\uff0c\u5bf9\u8fd9\u4e24\u79cd\u60c5\u51b5\u7684\u9ad8\u5206\u8fa8\u7387\u5206\u6790\u5c06\u5141\u8bb8\u5bf9\u4e34\u754c\u533a\u57df\u8bbe\u7f6e\u66f4\u4e25\u683c\u7684\u6781\u9650\u503c\u3002\u56e0\u4e3a\u591a\u4e2a\u9635\u5217\u514b\u9686\u4f53\u5305\u542b\u5728\u5176\u4e2d,\u6240\u4ee5\u5bf9\u5f53\u524d\u75c5\u4f8b\u7684\u9ad8\u8bef\u5dee\u6d88\u9664\u5206\u6790\u4e0d\u4f1a\u4f7f\u5f97\u8bed\u97f3\u5ef6\u8fdf\u6216\u9762\u90e8\u533a\u57df\u53d8\u5f97\u975e\u5e38\u7cbe\u786e\u3002\u5173\u4e8e\u57fa\u56e0\u578b-\u8868\u578b\u5173\u7cfb\u7684\u7814\u7a76\u7ed3\u679c\u4e0e\u8fc4\u4eca\u4e3a\u6b62\u53d1\u8868\u7684\u6587\u732e\u8fdb\u884c\u6bd4\u8f83\u7684\u7ed3\u679c\u5982<a href=\"#figure_4\">\u56fe4<\/a>\u6240\u793a\u3002<\/p>\n<p>\u7b80\u800c\u8a00\u4e4b,\u4e3a\u4e86\u66f4\u597d\u5730\u7406\u89e3\u57fa\u56e0\u578b\u548c\u8868\u578b\u4e4b\u95f4\u7684\u5173\u7cfb,\u4f7f\u7528\u9635\u5217CGH\u7ed8\u5236\u4e8694\u4f8b5p\u7f3a\u5931\u60a3\u8005\u7684\u5f02\u5e38\u3002\u4f5c\u8005\u6307\u51fa\uff0c\u67d3\u8272\u4f53\u7684\u4e09\u4e2a\u533a\u57df\u5bf9\u60a3\u8005\u7684MR\u6c34\u5e73\u6709\u4e0d\u540c\u7684\u5f71\u54cd\u3002\u6d89\u53ca\u8fd9\u4e09\u4e2a\u533a\u57df\u7684\u5168\u90e8\u6216\u90e8\u5206\u7684\u7f3a\u5931\u4e0e\u57fa\u56e0\u7ec4\u4e2d\u7684\u5176\u4ed6\u5f02\u5e38\u76f8\u4e92\u4f5c\u7528\u4ee5\u4ea7\u751f\u5b8c\u6574\u7684MR\u8868\u578b\u3002\u6700\u540e\uff0c\u4f5c\u8005\u7684\u9ad8\u5206\u8fa8\u7387\u6570\u636e\u4f7f\u5f97\u5728\u732b\u53eb\u7efc\u5408\u75c7\u7684\u5178\u578b\u54ed\u6ce3,\u9762\u90e8\u7279\u5f81\u548c\u8bed\u8a00\u5ef6\u8fdf\u4e2d\u6d89\u53ca\u5230\u7684\u57fa\u56e0\u7684\u4f4d\u7f6e\u5f97\u4ee5\u7ec6\u5316\u3002<\/p>\n<\/section>\n<section id=\"table_2\" class=\"note_table\">\n<h4><span class=\"ez-toc-section\" id=\"%E8%A1%A82_MR%E5%88%86%E7%B1%BB\"><\/span>\u88682<br>MR\u5206\u7c7b<span class=\"ez-toc-section-end\"><\/span><\/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\u6c34\u5e73<\/th>\n<th rowspan=\"2\">\u8bf4\u660e(IQ)<\/th>\n<th colspan=\"2\">\u8868\u578b<\/th>\n<\/tr>\n<tr>\n<th>\u513f\u7ae5<\/th>\n<th>\u5e7c\u513f<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>0<\/td>\n<td>\u6b63\u5e38<\/td>\n<td>\u6ca1\u6709MR<\/td>\n<td>\u6ca1\u6709MR<\/td>\n<\/tr>\n<tr>\n<td>1<\/td>\n<td>\u754c\u9650<br>(&lt;70)<\/td>\n<td>\u957f\u671f\u5728\u6b63\u89c4\u5b66\u6821\u5b66\u4e60,\u9700\u8981\u5c11\u91cf\/\u4e3b\u8981\u7684\u5e2e\u52a9<\/td>\n<td>\u6b63\u5e38\u53d1\u80b2\u7684\u91cc\u7a0b\u7891\uff0c\u4e0a\u5b66\u7684\u7b2c\u4e00\u5e74\u6709\u660e\u663e\u7684\u8f7b\u5ea6\u5ef6\u8fdf<\/td>\n<\/tr>\n<tr>\n<td>2<\/td>\n<td>\u975e\u5e38\u7a33\u5b9a<br>(&lt;65)<\/td>\n<td>\u4e0a\u51e0\u5e74\u6b63\u89c4\u5b66\u6821,\u9700\u8981\u5f88\u5927\u7684\u652f\u63f4,\u6709\u7b80\u5355\u7684\u8bfb\u5199\u548c\u6570\u5b66\u80fd\u529b\u3002<\/td>\n<td>\u6700\u521d\u51e0\u5e74\u662f\u6b63\u5e38\u53d1\u80b2\u7684\u91cc\u7a0b\u7891,2-3\u5c81\u5f00\u59cb\u6709\u660e\u663e\u7684\u8f7b\u5ea6\u5ef6\u8fdf<\/td>\n<\/tr>\n<tr>\n<td>3<\/td>\n<td>\u7a33\u5b9a<br>(&lt;50)<\/td>\n<td>\u80fd\u7406\u89e3\u5305\u62ec\u957f\u6587\u5728\u5185\u7684\u4e00\u5207,\u5177\u6709\u975e\u5e38\u7b80\u5355\u7684\u8bfb\u5199\u548c\u7b97\u6570\u7684\u80fd\u529b\u3002<\/td>\n<td>\u6210\u957f\u7684\u91cc\u7a0b\u7891\u63a8\u8fdf\u4e86\u51e0\u4e2a\u6708\u3002<\/td>\n<\/tr>\n<tr>\n<td>4<\/td>\n<td>\u4e2d\u7b49\u7a0b\u5ea6<br>(&lt;35)<\/td>\n<td>\u7406\u89e3\u5927\u591a\u6570\u4e8b\u7269\uff0c\u5e76\u4f7f\u7528\u5c0f\u6587\u7ae0\u548c\u5927\u91cf\u7b7e\u540d\u3002<\/td>\n<td>\u53d1\u80b2\u7684\u91cc\u7a0b\u7891\u63a8\u8fdf\u4e86\u51e0\u4e2a\u6708\u3002\u4ece1\u5c81\u5f00\u59cb\u6709\u660e\u663e\u7684\u5ef6\u8fdf<\/td>\n<\/tr>\n<tr>\n<td>5<\/td>\n<td>\u91cd\u5ea6<br>(&lt;20)<\/td>\n<td>\u7406\u89e3\u7b80\u5355\u7684\u5e38\u7528\u8bed\u548c\u5355\u8bcd,\u4f1a\u4f7f\u75282~3\u4e2a\u5355\u8bcd\u7684\u53e5\u5b50\u548c\u591a\u4e2a\u7b7e\u540d,\u4f1a\u8d70\u8def\u3002<\/td>\n<td>\u53d1\u80b2\u7684\u91cc\u7a0b\u7891\u63a8\u8fdf\u51e0\u4e2a\u6708\u5230\u4e00\u5e74\u3002MR\u57281\u5c81\u524d\u53d8\u5f97\u660e\u663e<\/td>\n<\/tr>\n<tr>\n<td>6<\/td>\n<td>\u975e\u5e38\u4e25\u91cd<br>(&lt;10)<\/td>\n<td>\u80fd\u7406\u89e3\u51e0\u4e2a\u5355\u8bcd\u3002\u6b63\u5e38\u60c5\u51b5\u4e0b,\u5982\u679c\u53d7\u5230\u652f\u6301,\u5c31\u4f1a\u8d70\u5f97\u5f88\u4e0d\u7a33\u5b9a\u3002\u4e0d\u4f1a\u8bf4\u8bdd,\u6216\u8005\u53ea\u4f1a\u8bf4\u51e0\u53e5\u8bdd\u3002<\/td>\n<td>\u6210\u957f\u7684\u91cc\u7a0b\u7891\u5df2\u7ecf\u665a\u4e86\u51e0\u5e74;MR\u57286\u4e2a\u6708\u524d\u88ab\u53d1\u73b0<\/td>\n<\/tr>\n<tr>\n<td>7<\/td>\n<td>\u6781\u5ea6<\/td>\n<td>\u75c7\u72b6\u8f7b\u5fae\u6216\u65e0\u53cd\u5e94\uff0c\u53ef\u5750\u4e0b\u6216\u7ad9\u7acb\u3002<\/td>\n<td>\u52305\u5c81\u8fd8\u4e0d\u80fd\u4e00\u4e2a\u4eba\u5750\u7acb\u3002<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p class=\"can_slide\">\u53ef\u4ee5\u6a2a\u5411\u6ed1\u52a8<\/p>\n<\/div>\n<\/section>\n<section id=\"table_3\" class=\"note_table\">\n<h4><span class=\"ez-toc-section\" id=\"%E8%A1%A83_5p%E5%88%86%E6%9E%90%E9%98%B5%E5%88%97%E5%85%8B%E9%9A%86%E4%BD%93\"><\/span>\u88683<br>5p\u5206\u6790\u9635\u5217\u514b\u9686\u4f53<span class=\"ez-toc-section-end\"><\/span><\/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\">\u514b\u9686\u6570<\/th>\n<th colspan=\"2\">\u6807\u8bb0\u7269<\/th>\n<th colspan=\"3\">\u4f4d\u7f6e<\/th>\n<th rowspan=\"2\">\u514b\u9686\u540d\u79f0<\/th>\n<\/tr>\n<tr>\n<th>\u8bb0\u53f7<\/th>\n<th>\u540d\u79f0<\/th>\n<th>\u7ec6\u80de\u9057\u4f20\u5b66<sup>a<\/sup><\/th>\n<th>\u6392\u5217(Mb)<sup>a<\/sup><\/th>\n<th>\u9057\u4f20\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\">\u53ef\u4ee5\u6a2a\u5411\u6ed1\u52a8<\/p>\n<\/div>\n<aside>\n<ul>\n<li>\u5907\u6ce8-\u6b64\u8868\u7684\u7535\u5b50\u7248 (\u8868A2) \u5305\u542b\u5728\u9644\u5f55A\u4e2d (\u4ec5\u5728\u7ebf\u7248\u672c) \u3002<\/li>\n<li>a \u4f4d\u7f6e\u662f\u6839\u636e2003\u5e747\u6708\u7684UCSC\u5e8f\u5217\u3002<\/li>\n<li>b \u4f4d\u7f6e\u6839\u636e\u4eba\u7c7b\u57fa\u56e0\u7ec4\u7684\u4f9d\u636eSTS\u7684\u5730\u56fe (Hudson et al.1995) \u3002<\/li>\n<li>c D5S676\u548cD5S1957\u4e4b\u95f4\u7684\u63d2\u503c\u3002<\/li>\n<li>d D5S208\u548cD5S630\u4e4b\u95f4\u7684\u63d2\u503c\u3002<\/li>\n<li>e D5S1850\u548cafm042xa11\u4e4b\u95f4\u7684\u63d2\u503c\u3002<\/li>\n<li>f \u4f4d\u7f6e\u57fa\u4e8e\u5220\u9664\u6570\u636e\u7684\u987a\u5e8f\u3002\u8fd9\u4e2a\u987a\u5e8f\u4e0e\u57fa\u56e0\u7ec4\u5e8f\u5217\u4e0d\u4e00\u81f4\u3002<\/li>\n<li>g \u6839\u636e\u6570\u636e\u663e\u793a\u8be5\u5e8f\u5217\u5728\u57fa\u56e0\u7ec4\u4e2d\u91cd\u590d\u3002\u57282003\u5e747\u6708\u7684\u51bb\u7ed3\u4e2d\u6ca1\u6709\u53d1\u73b0\u91cd\u590d\u3002\u57282003\u5e744\u6708\u7684\u51bb\u7ed3\u4e2d\uff0c\u53d1\u73b0\u7b2c\u4e8c\u4e2a\u526f\u672c\u572834.070Mb\u3002<\/li>\n<\/ul>\n<\/aside>\n<\/section>\n<section id=\"table_4\" class=\"note_table\">\n<h4><span class=\"ez-toc-section\" id=\"%E8%A1%A84_%E9%A2%9D%E5%A4%96%E5%BC%82%E5%B8%B8\"><\/span>\u88684 \u989d\u5916\u5f02\u5e38<span class=\"ez-toc-section-end\"><\/span><\/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>\u6c34\u5e73<\/th>\n<th rowspan=\"2\">\u7ec6\u80de\u9057\u4f20\u5b66\u4f4d\u7f6e<\/th>\n<th rowspan=\"2\">\u590d\u5236\u6570\u91cf<\/th>\n<th colspan=\"2\">\u4e0a\u9650<\/th>\n<th colspan=\"2\">\u4e0b\u9650<\/th>\n<th rowspan=\"2\">\u5927\u5c0f<br>(Mb)<\/th>\n<th rowspan=\"2\">\u4fee\u8ba2\u6838\u578b<sup>a<\/sup><\/th>\n<\/tr>\n<tr>\n<th>\u4fdd\u7559\u514b\u9686\u4f53<sup>b<\/sup><\/th>\n<th>\u4f4d\u7f6e<br>(Mb)<sup>c<\/sup><\/th>\n<th>\u4fdd\u7559\u514b\u9686\u4f53<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>\u5907\u6ce8:\u53ef\u80fd\u6d89\u53ca\u7aef\u7c92\u7684\u5f02\u5e38\u4ee5pter\u6216qter\u7684\u5f62\u5f0f\u8868\u793a\u3002<\/li>\n<li>a \u6838\u578b\u662f\u6839\u636e\u5e8f\u5217\u6570\u636e\u4fee\u6539\u7684\u3002\u521d\u671f\u8bc4\u4ef7\u5982<a href=\"#table_1\">\u88681<\/a>\u6240\u793a\u3002<\/li>\n<li>b \u4f4d\u4e8e\u50cf\u5dee\u4e0a\u65b9 (\u6700\u63a5\u8fd1pter) \u6216\u4e0b\u65b9 (\u6700\u63a5\u8fd1qter) \u8fb9\u754c\u7684\u514b\u9686\u4f53,\u4e0d\u5305\u62ec\u5728\u50cf\u5dee\u4e2d\u3002<\/li>\n<li>c Position\u662f\u4f9d\u636e2003\u5e747\u6708\u7684UCSC\u5e8f\u5217\u6765\u4f30\u7b97\u5c0f\u6570\u70b9\u540e\u7684\u4f4d\u7f6e\u3002<\/li>\n<li>d \u88683\u4e2d\u7684\u514b\u9686\u7f16\u53f7\u3002<\/li>\n<li>e \u5728\u6570\u7ec4\u6570\u636e\u4e2d\u5b9a\u4e49\u3002<\/li>\n<li>f \u7531\u4e8eDNA\u8d28\u91cf\u8f83\u5dee\uff0c\u56e0\u6b64\u5b58\u5728\u8bb8\u591a\u5e72\u6270\u6570\u636e\u3002\u53ef\u80fd\u5b58\u5728\u5176\u4ed6\u5f02\u5e38\u3002<\/li>\n<li>g \u589e\u76ca\u5305\u62ec\u8fd9\u4e2a\u514b\u9686\u4f53\u3002\u9635\u5217\u4e0a\u7684\u590d\u5236\u4e0d\u8db3\u4ee5\u4f30\u8ba1\u5f97\u5230\u7684\u533a\u57df\u5927\u5c0f\u3002<\/li>\n<\/ul>\n<\/aside>\n<\/section>\n<section id=\"figure_2\" class=\"note_figure\">\n<h4><span class=\"ez-toc-section\" id=\"%E5%9B%BE2\"><\/span>\u56fe2<span class=\"ez-toc-section-end\"><\/span><\/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\">MR\u6c34\u5e73\u5bf95p\u7f3a\u5931\u7684\u4f9d\u8d56\u6027\u3002A\u3001\u5ef6\u8fdf\u8bc4\u4f30\u53ef\u7528\u7684\u5168\u90e891\u4f8b\u6570\u636e\u3002\u9ed1\u8272\u90e8\u5206\u8868\u793a\u5728\u6bcf\u79cd\u60c5\u51b5\u4e0b\u4fdd\u7559\u7684\u67d3\u8272\u4f53\u533a\u57df\uff0c\u5e76\u76f8\u5bf9\u4e8e5pter\u7684\u7269\u7406\u4f4d\u7f6e\u7ed8\u5236\u3002\u4e2d\u5fc3\u4f4d\u4e8e\u56fe\u8868\u5e95\u90e8\u4e0b\u65b9\u3002\u5ef6\u8fdf\u6c34\u5e73\u5bf9\u7f3a\u5931\u7684\u4f9d\u8d56\u6027\u662f\u663e\u800c\u6613\u89c1\u7684\uff0c\u4f46\u5f80\u5f80\u4f34\u968f\u7740\u5728\u4e00\u822c\u8d8b\u52bf\u4e2d\u770b\u8d77\u6765\u592a\u5c0f\u7684\u7f3a\u5931\u3002\u5bf9\u4e8eMR\u6c34\u5e735,\u6309\u7167\u6bcf\u4e2a\u6c34\u5e73\u5185\u7684\u8fd1\u7aef\u7f3a\u5931\u8fb9\u754c\u7684\u987a\u5e8f\u7ed8\u5236\u6570\u636e\u3002<br>\u4ece\u8fd9\u4e9b\u91cd\u75c7\u548c\u91cd\u5ea6\u60a3\u75c5\u60a3\u8005\u5206\u914d\u5ef6\u8fdf\u8868\u578b\u7684MR\u6c34\u5e73\u4f30\u8ba1\u67090.5~1\u7684\u4e0d\u786e\u5b9a\u6027\u3002\u5bf9\u4e8e\u4ec5\u68c0\u6d4b\u52305p\u7f3a\u5931\u7684\u60a3\u8005\uff0c\u4e5f\u91c7\u7528\u4e86B,\u76f8\u540c\u7684\u7ed8\u56fe\u3002\u9700\u8981\u6ce8\u610f\u7684\u662f,\u5927\u591a\u6570\u4e25\u91cd\u969c\u788d\u7684\u60a3\u8005\u5e76\u4e0d\u5b58\u5728,\u56e0\u4e3a\u5b58\u5728\u66f4\u591a\u7684\u5f02\u5e38\u3002\u5ef6\u8fdf\u5bf95p\u7f3a\u5931\u7684\u4f9d\u8d56\u6027\u8981\u4e00\u81f4\u5f97\u591a\u3002\u5efa\u8bae5p-MRI\u3001MRII\u548cMRIII\u4e09\u4e2a\u533a\u57df\u5bf9\u5ef6\u8fdf\u5177\u6709\u5dee\u5f02\u6548\u5e94\u3002\u672c\u6587\u5c06\u5bf9\u8fd9\u4e9b\u9886\u57df\u8fdb\u884c\u8bf4\u660e\u3002<\/p>\n<\/section>\n<section id=\"figure_3\" class=\"note_figure\">\n<h4><span class=\"ez-toc-section\" id=\"%E5%9B%BE3_Am_J_Hum_Genet_76_312%E2%80%93326_2005\"><\/span>\u56fe3 Am. J. Hum. Genet. 76:312\u2013326, 2005<span class=\"ez-toc-section-end\"><\/span><\/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>\u75c5\u4eba\u6570\u636e\u6458\u8981,\u8bc6\u522b5p\u533a\u57df,\u6d89\u53ca\u8868\u578b\u54ed\u58f0,\u9762\u90e8\u5f62\u6001\u5f02\u5e38\u548c\u8bed\u8a00\u5ef6\u8fdf\u7279\u5f81\u3002\u9ed1\u8272\u90e8\u5206\u8868\u793a\u67d3\u8272\u4f53\u7684\u4fdd\u7559\u533a\u57df\u3002\u663e\u793a\u8fb9\u754c\u4e0a\u5269\u4f59\u7684\u514b\u9686\u4f53(<\u53c2\u89c1a href=\"#table_3\">\u88683<\/a>)\u3002 \u300cY\u300d \u8868\u793a\u60a3\u8005\u5b58\u5728\u8868\u578b\u7279\u5f81, \u300cN\u300d \u8868\u793a\u4e0d\u5b58\u5728\u3002<br>\u9ed1\u8272\u65b9\u5757\u8868\u793a\u65e0\u6cd5\u83b7\u5f97\u4e0e\u8be5\u60a3\u8005\u76f8\u5173\u7684\u4fe1\u606f\u3002\u5706\u5708\u8868\u793a\u60a3\u8005\u63d0\u4f9b\u5173\u4e8e\u5f15\u8d77\u8be5\u7279\u5f81\u7684\u67d3\u8272\u4f53\u90e8\u5206\u7684\u4f4d\u7f6e\u7684\u6700\u6709\u7528\u4fe1\u606f\u3002\u60a3\u8005252\u7684\u7f51\u72b6\u300cN\u300d \u8868\u793a\u8be5\u60a3\u8005\u7684\u7f3a\u5931\u5e94\u4e0d\u4f1a\u5bfc\u81f4\u8868\u578b\u3002\n<p>&nbsp;<\/p>\n<\/section>\n<section id=\"figure_4\" class=\"note_figure\">\n<h4><span class=\"ez-toc-section\" id=\"%E5%9B%BE4_Zhang_et_al_Cri_du_Chat_Genotype-Phenotype\"><\/span>\u56fe4 Zhang et al.: Cri du Chat Genotype-Phenotype<span class=\"ez-toc-section-end\"><\/span><\/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>\u4ece\u4f5c\u8005\u6570\u636e\u548c\u8fc7\u53bb\u6587\u732e\u6570\u636e\u4e2d\u603b\u7ed3\u57fa\u56e0\u578b-\u8868\u578b\u5173\u7cfb\u3002\u4e0e\u4ece2003\u5e747\u6708\u4eba\u7c7b\u57fa\u56e0\u7ec4\u5e8f\u5217\u51bb\u7ed3\u83b7\u5f97\u7684\u7269\u7406\u56fe\u8c31\u76f8\u6bd4\uff0c\u663e\u793a\u4e86\u67d3\u8272\u4f53\u6761\u5e26\u3002\n<p>&nbsp;<\/p>\n<\/section>\n<section class=\"acknowledgments\">\n<h4><span class=\"ez-toc-section\" id=\"%E6%84%9F%E8%B0%A2\"><\/span>\u611f\u8c22<span class=\"ez-toc-section-end\"><\/span><\/h4>\n<p>\u8be5\u7814\u7a76\u5f97\u5230\u4e86\u56fd\u5bb6\u513f\u7ae5\u536b\u751f\u4e0e\u4eba\u7c7b\u53d1\u5c55\u7814\u7a76\u6240\u8d44\u52a9HD 17665, VISIS\u6709\u9650\u516c\u53f8\uff0c\u4e39\u9ea6STF\u6bd4\u8f83\u57fa\u56e0\u7ec4\u8ba1\u5212\uff0c\u4e39\u9ea6\u57fa\u7840\u7814\u7a76\u57fa\u91d1\u4f1a\u7efc\u5408\u751f\u7269\u5b66\u5e73\u53f0\uff0c\u56fd\u5bb6\u81ea\u7136\u79d1\u5b66\u57fa\u91d1\u4f1a\u7684\u8d5e\u52a9\u3002<\/p>\n<\/section>\n<section class=\"electronic-database_information\">\n<h4><span class=\"ez-toc-section\" id=\"%E7%94%B5%E5%AD%90%E6%95%B0%E6%8D%AE%E5%BA%93%E4%BF%A1%E6%81%AF\"><\/span>\u7535\u5b50\u6570\u636e\u5e93\u4fe1\u606f<span class=\"ez-toc-section-end\"><\/span><\/h4>\n<ul>\n<li>\u6b64\u5904\u53d1\u5e03\u7684\u6570\u636e\u7684URL\u5982\u4e0b\u3002\u5728\u7ebf\u5b5f\u5fb7\u5c14\u9057\u4f20 (OMIM) \uff0c http:\/\/www.ncbi.nlm.nih.gov\/Omim\/\uff0c UCSC\u57fa\u56e0\u7ec4\u751f\u7269\u4fe1\u606f\u5b66\uff0c http:\/\/genome.cse.ucsc.edu\/\u53c2\u8003\u6587\u732eAlbertson DG, Pinkel D (2003) \u4eba\u7c7b\u9057\u4f20\u75c5\u548c\u764c\u75c7\u7684\u57fa\u56e0\u7ec4\u5fae\u9635\u5217\u3002<\/li>\n<\/ul>\n<\/section>\n<section class=\"references\">\n<h4><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span>\u53c2\u8003\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h4>\n<ul>\n<li>Hum Mol Genet 12 (Spec 2) :\u901a\u8fc7R 145 -152 Albertson DG, Ylstra B, Segraves R, Collins C, 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102:528-533<\/li>\n<\/ul>\n<\/section>\n<section>\n<h4><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%89%88%E5%95%86%E6%B3%A8%E9%87%8A\"><\/span>\u51fa\u7248\u5546\u6ce8\u91ca<span class=\"ez-toc-section-end\"><\/span><\/h4>\n<p>Springer Nature\u5bf9\u516c\u5f00\u7684\u5730\u56fe\u548c\u8bbe\u65bd\u5185\u7684\u5408\u4f5c\u4e2d\u7684\u7ba1\u8f96\u6743\u4e3b\u5f20\u662f\u4e2d\u7acb\u7684\u3002<\/p>\n<\/section>\n","protected":false},"excerpt":{"rendered":"\u4f7f\u7528\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6df7\u5408\u7ffb\u8bd1\u732b\u53eb\u7efc\u5408\u75c7\u4e2d\u57fa&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":898,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-45739","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/45739","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=45739"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/45739\/revisions"}],"predecessor-version":[{"id":74099,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/45739\/revisions\/74099"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/898"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=45739"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=45739"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=45739"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}