{"id":83651,"date":"2024-11-15T17:19:47","date_gmt":"2024-11-15T08:19:47","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83651"},"modified":"2026-03-04T12:56:53","modified_gmt":"2026-03-04T03:56:53","slug":"xp21-2-microduplication-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp21-2-microduplication-syndrome\/","title":{"rendered":"Xp21.2 \u91cd\u8907\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>\u7a00\u5c11\u75be\u60a3\u306e\u80cc\u666f\u306b\u3042\u308b\u907a\u4f1d\u5b50\u5909\u7570\u3068\u75c5\u614b\u306b\u3064\u3044\u3066\u6df1\u304f\u6398\u308a\u4e0b\u3052\u305f\u8a18\u4e8b\u3067\u3059\u3002IL1RAPL1\u3001NR0B1\u3001DMD\u306a\u3069\u3001\u6ce8\u76ee\u3059\u3079\u304d\u907a\u4f1d\u5b50\u304c\u3069\u306e\u3088\u3046\u306b\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u306e\u304b\u3092\u8a73\u8ff0\u3057\u3066\u3044\u307e\u3059\u3002\u7814\u7a76\u306e\u9032\u5c55\u3084\u8a3a\u65ad\u306e\u91cd\u8981\u6027\u306b\u3064\u3044\u3066\u3082\u89e6\u308c\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u6cbb\u7642\u306e\u53ef\u80fd\u6027\u306b\u8feb\u308a\u307e\u3059\u3002<\/p><\/div>\n\n\n\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 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp21-2-microduplication-syndrome\/#%EF%BC%91_IL1RAP1%E3%80%80X%E9%80%A3%E9%8E%96%E6%80%A7%E7%9F%A5%E7%9A%84%E7%99%BA%E9%81%94%E9%9A%9C%E5%AE%B321%EF%BC%88X-linked_intellectual_developmental_disorder-21_XLID21%EF%BC%89\" >[\uff11_IL1RAP1]\u3000X\u9023\u9396\u6027\u77e5\u7684\u767a\u9054\u969c\u5bb321\uff08X-linked intellectual developmental disorder-21 (XLID21)\uff09<\/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\/xp21-2-microduplication-syndrome\/#%EF%BC%92_NR0B1%E3%80%80NR0B1%E9%96%A2%E9%80%A3%E5%85%88%E5%A4%A9%E6%80%A7%E5%89%AF%E8%85%8E%E4%BD%8E%E5%BD%A2%E6%88%90%E7%97%87%EF%BC%88NR0B1-Related_Adrenal_Hypoplasia_Congenita%EF%BC%89\" >[\uff12_NR0B1]\u3000NR0B1\u95a2\u9023\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\uff08NR0B1-Related Adrenal Hypoplasia Congenita\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp21-2-microduplication-syndrome\/#%EF%BC%93_GK%E3%80%80%E3%82%B0%E3%83%AA%E3%82%BB%E3%83%AD%E3%83%BC%E3%83%AB%E3%82%AD%E3%83%8A%E3%83%BC%E3%82%BC%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%88Glycerol_kinase_deficiency_GKD%EF%BC%89\" >[\uff13_GK]\u3000\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08Glycerol kinase deficiency (GKD)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp21-2-microduplication-syndrome\/#%EF%BC%94_DMD%E3%80%80%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%8E%E3%83%91%E3%83%81%E3%83%BC%E3%80%81%E3%83%87%E3%83%A5%E3%82%B7%E3%82%A7%E3%83%B3%E3%83%8C%E5%9E%8B%E7%AD%8B%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC%E3%80%81%E6%8B%A1%E5%BC%B5%E5%9E%8B%E5%BF%83%E7%AD%8B%E7%97%87%EF%BC%88Dystrophinopathies_Duchenne_muscular_dystrophy_DMD_Dilated_Cardiomyopathy%EF%BC%89\" >[\uff14_DMD]\u3000\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30ce\u30d1\u30c1\u30fc\u3001\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08Dystrophinopathies, Duchenne muscular dystrophy (DMD), Dilated Cardiomyopathy\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp21-2-microduplication-syndrome\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E5%BA%A7%E3%81%AB%E3%81%82%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%AB%E9%96%A2%E4%B8%8E%E3%81%99%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E9%AB%98%E3%81%84%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span>\u3053\u306e\u907a\u4f1d\u5b50\u5ea7\u306b\u3042\u308b\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u907a\u4f1d\u5b50<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/79e16a4264adb6ddf1f0638eaa532abf-1024x20.png\" alt=\"Xp21.2\u3000\" class=\"wp-image-91024\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-table\"><table><tbody><tr><td class=\"has-text-align-center\" data-align=\"center\"><strong>S\/N<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u907a\u4f1d\u5b50\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u95a2\u9023\u3059\u308b\u75be\u60a3\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>Associated disease name(s)<\/strong><\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11<\/td><td class=\"has-text-align-center\" data-align=\"center\">IL1RAP1<\/td><td class=\"has-text-align-center\" data-align=\"center\">X\u9023\u9396\u6027\u77e5\u7684\u767a\u9054\u969c\u5bb321\uff08XLID21\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">X-linked intellectual developmental disorder-21 (XLID21)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff12<\/td><td class=\"has-text-align-center\" data-align=\"center\">NR0B1<\/td><td class=\"has-text-align-center\" data-align=\"center\">NR0B1\u95a2\u9023\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7<\/td><td class=\"has-text-align-center\" data-align=\"center\">NR0B1-Related Adrenal Hypoplasia Congenita<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff13<\/td><td class=\"has-text-align-center\" data-align=\"center\">GK<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08GKD\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">Glycerol kinase deficiency (GKD)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff14<\/td><td class=\"has-text-align-center\" data-align=\"center\">DMD<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30ce\u30d1\u30c1\u30fc\u3001\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08DMD\uff09\u3001\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7<\/td><td class=\"has-text-align-center\" data-align=\"center\">Dystrophinopathies, Duchenne muscular dystrophy (DMD), Dilated Cardiomyopathy<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"925\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chromox-MeGbDOXAeKbUEBBTJUAAASHX.png\" alt=\"chromoX\" class=\"wp-image-90588\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%91_IL1RAP1%E3%80%80X%E9%80%A3%E9%8E%96%E6%80%A7%E7%9F%A5%E7%9A%84%E7%99%BA%E9%81%94%E9%9A%9C%E5%AE%B321%EF%BC%88X-linked_intellectual_developmental_disorder-21_XLID21%EF%BC%89\"><\/span>[\uff11_IL1RAP1]\u3000X\u9023\u9396\u6027\u77e5\u7684\u767a\u9054\u969c\u5bb321\uff08X-linked intellectual developmental disorder-21 (XLID21)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/79e16a4264adb6ddf1f0638eaa532abf-1024x20.png\" alt=\"Xp21.2\u3000\" class=\"wp-image-91024\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/IL1RAP1-hgtIdeo_genome_d8721_f35db0-1024x20.png\" alt=\"IL1RAP1 \" class=\"wp-image-91043\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>X\u9023\u9396\u6027\u77e5\u7684\u767a\u9054\u969c\u5bb3-21\uff08XLID21\uff09\u306f\u3001X\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u9818\u57df\uff08Xp21.2\uff09\u306b\u5b58\u5728\u3059\u308bIL1RAPL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u767a\u751f\u3059\u308b\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30a4\u30f3\u30bf\u30fc\u30ed\u30a4\u30ad\u30f31\u53d7\u5bb9\u4f53\u88dc\u52a9\u30bf\u30f3\u30d1\u30af\u8cea\u69d81\uff08Interleukin-1 receptor accessory protein-like 1\uff09\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u795e\u7d4c\u767a\u9054\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u795e\u7d4c\u7d30\u80de\u9593\u306e\u60c5\u5831\u4f1d\u9054\u3084\u6210\u9577\u306b\u95a2\u308f\u308b\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30d7\u30ed\u30bb\u30b9\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002N\u578b\u96fb\u4f4d\u4f9d\u5b58\u6027\u30ab\u30eb\u30b7\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306e\u6d3b\u52d5\u6291\u5236\u3001MAP\u30ad\u30ca\u30fc\u30bcJNK\u306e\u6d3b\u6027\u5316\u3001\u795e\u7d4c\u7a81\u8d77\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\u306e\u4f38\u3073\u51fa\u3057\u305f\u90e8\u5206\uff09\u306e\u6210\u9577\u4fc3\u9032\u3001\u3055\u3089\u306b\u6a39\u72b6\u7a81\u8d77\u30b9\u30d1\u30a4\u30f3\uff08\u795e\u7d4c\u7d30\u80de\u9593\u306e\u63a5\u7d9a\u3092\u5f62\u6210\u3059\u308b\u69cb\u9020\uff09\u306e\u5f62\u6210\u3092\u52a9\u3051\u308b\u50cd\u304d\u3067\u3059\u3002<\/p>\n\n\n\n<p>IL1RAPL1\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u3001\u305d\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3068\u3001\u795e\u7d4c\u306e\u6210\u9577\u3084\u63a5\u7d9a\u306e\u5f62\u6210\u304c\u59a8\u3052\u3089\u308c\u3001\u7d50\u679c\u3068\u3057\u3066\u77e5\u7684\u767a\u9054\u969c\u5bb3\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002XLID21\u306e\u7279\u5fb4\u306f\u3001\u767a\u9054\u671f\u306b\u8a8d\u3081\u3089\u308c\u308b\u5e73\u5747\u4ee5\u4e0b\u306e\u77e5\u7684\u6a5f\u80fd\u3084\u9069\u5fdc\u884c\u52d5\u306e\u969c\u5bb3\u3067\u3059\u3002\u7279\u306b\u3001\u975e\u75c7\u5019\u6027X\u9023\u9396\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08non-syndromic intellectual disability\uff09\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u4e3b\u305f\u308b\u75c7\u72b6\u3068\u306a\u308a\u3001\u305d\u308c\u4ee5\u5916\u306e\u8eab\u4f53\u7684\u307e\u305f\u306f\u7cbe\u795e\u7684\u306a\u7279\u5fb4\u304c\u898b\u3089\u308c\u306a\u3044\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u4e00\u65b9\u3001\u75c7\u5019\u6027\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306b\u52a0\u3048\u3001\u8eab\u4f53\u7684\u7570\u5e38\u3084\u795e\u7d4c\u5b66\u7684\u3001\u7cbe\u795e\u7684\u306a\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/30835520_s.jpg\" alt=\"\u5e7c\u5150\u6559\u80b2\" class=\"wp-image-91063\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>X\u9023\u9396\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u3001\u7537\u6027\u7d04600\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u751f\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u306b\u75c7\u5019\u6027\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u5f15\u304d\u8d77\u3053\u3059\u591a\u304f\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3066\u304d\u307e\u3057\u305f\u304c\u3001\u975e\u75c7\u5019\u6027\u306e\u30b1\u30fc\u30b9\u306b\u3064\u3044\u3066\u306f\u3001\u907a\u4f1d\u7684\u591a\u69d8\u6027\uff08\u3055\u307e\u3056\u307e\u306a\u907a\u4f1d\u7684\u8981\u56e0\u304c\u7d61\u3080\u3053\u3068\uff09\u306e\u305f\u3081\u7814\u7a76\u304c\u9032\u307f\u306b\u304f\u3044\u72b6\u6cc1\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u30d9\u30c3\u30ab\u30fc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\u3001\u526f\u814e\u4f4e\u5f62\u6210\u3092\u542b\u3080\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u3092\u6301\u30643\u4eba\u306e\u5144\u5f1f\u3092\u8abf\u67fb\u3057\u305f\u7814\u7a76\u3067\u306f\u3001IL1RAPL1\u907a\u4f1d\u5b50\u304c\u4ed6\u306e\u95a2\u9023\u907a\u4f1d\u5b50\u3068\u3068\u3082\u306b\u5b8c\u5168\u307e\u305f\u306f\u90e8\u5206\u7684\u306b\u6b20\u5931\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u307e\u3057\u305f\u3002\u3053\u306e\u3088\u3046\u306a\u6b20\u5931\u304c\u975e\u75c7\u5019\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u8907\u6570\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>IL1RAPL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u4e3b\u306b\u5bb6\u65cf\u5185\u3067X\u9023\u9396\u6027\u306b\u907a\u4f1d\u3057\u307e\u3059\u3002X\u9023\u9396\u6027\u907a\u4f1d\u3067\u306f\u3001\u5909\u7570\u304c\u7537\u6027\u306b\u73fe\u308c\u3084\u3059\u304f\u3001\u5973\u6027\u30ad\u30e3\u30ea\u30a2\u306f\u75c7\u72b6\u304c\u8efd\u5ea6\u3067\u3042\u308b\u304b\u3001\u3042\u308b\u3044\u306f\u75c7\u72b6\u304c\u73fe\u308c\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u30011993\u5e74\u306b\u5831\u544a\u3055\u308c\u305f\u30a4\u30bf\u30ea\u30a2\u306e3\u4e16\u4ee3\u306b\u308f\u305f\u308b\u5bb6\u65cf\u3067\u306f\u30014\u4eba\u306e\u7537\u6027\u304c\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u793a\u3057\u305f\u4e00\u65b9\u3001\u5973\u6027\u30ad\u30e3\u30ea\u30a2\u3067\u306f\u8efd\u5ea6\u306e\u969c\u5bb3\u3092\u6301\u3064\u8005\u3068\u6b63\u5e38\u306a\u77e5\u80fd\u3092\u6301\u3064\u8005\u304c\u6df7\u5728\u3057\u3066\u3044\u307e\u3057\u305f\u3002\u3053\u306e\u3088\u3046\u306a\u72b6\u6cc1\u306f\u3001\u907a\u4f1d\u7684\u6d78\u900f\u7387\uff08\u5909\u7570\u304c\u5fc5\u305a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u308f\u3051\u3067\u306f\u306a\u3044\u3053\u3068\uff09\u304c\u5b8c\u5168\u3067\u306f\u306a\u3044\u53ef\u80fd\u6027\u3092\u793a\u5506\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001IL1RAPL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u304c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09\u306e\u7279\u6027\u3092\u4f34\u3046<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u3001\u767a\u9054\u969c\u5bb3\u304c\u6bd4\u8f03\u7684\u8efd\u5ea6\u3067\u3042\u308a\u306a\u304c\u3089\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u7279\u6709\u306e\u793e\u4f1a\u7684\u76f8\u4e92\u4f5c\u7528\u306e\u56f0\u96e3\u3084\u53cd\u5fa9\u884c\u52d5\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u540c\u3058\u5909\u7570\u3092\u6301\u3064\u6bcd\u89aa\u304c\u6b63\u5e38\u306a\u8a8d\u77e5\u6a5f\u80fd\u3092\u793a\u3059\u5834\u5408\u3082\u3042\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u3084\u4ed6\u306e\u907a\u4f1d\u7684\u8981\u56e0\u304c\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/22349349_s.jpg\" alt=\"\u30dc\u30c3\u30c1\u304f\u3093\" class=\"wp-image-91067\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>IL1RAPL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u8133\u306e\u767a\u9054\u3084\u6a5f\u80fd\u306b\u3069\u306e\u3088\u3046\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u304b\u306b\u3064\u3044\u3066\u306f\u3001\u3044\u304f\u3064\u304b\u306e\u5206\u5b50\u30ec\u30d9\u30eb\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u304c\u63d0\u5531\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u5909\u7570\u306b\u3088\u3063\u3066\u751f\u6210\u3055\u308c\u305f\u7570\u5e38\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u7d30\u80de\u5185\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u3092\u59a8\u3052\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u7d30\u80de\u306e\u6210\u9577\u3084\u63a5\u7d9a\u5f62\u6210\u306b\u60aa\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u767a\u898b\u306f\u3001IL1RAPL1\u304c\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u6b63\u5e38\u306a\u767a\u9054\u3084\u6a5f\u80fd\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u307e\u3067\u306e\u7814\u7a76\u304b\u3089\u3001IL1RAPL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3084\u6b20\u5931\u306f\u3001\u7537\u6027\u3067\u306f\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u5973\u6027\u30ad\u30e3\u30ea\u30a2\u3067\u306f\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u6b63\u5e38\u306a\u77e5\u80fd\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u5909\u7570\u304c\u7279\u5b9a\u306e\u795e\u7d4c\u75c7\u72b6\u3092\u4f34\u3046\u30b1\u30fc\u30b9\u3082\u3042\u308a\u3001\u3053\u308c\u3089\u306f\u81e8\u5e8a\u7684\u591a\u69d8\u6027\u3092\u53cd\u6620\u3057\u3066\u3044\u307e\u3059\u3002\u60a3\u8005\u306e\u75c7\u72b6\u3084\u907a\u4f1d\u7684\u80cc\u666f\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3059\u308b\u3053\u3068\u306f\u3001\u8a3a\u65ad\u306e\u7cbe\u5ea6\u3092\u9ad8\u3081\u3001\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u63d0\u4f9b\u3059\u308b\u4e0a\u3067\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/17p13-3-duplication\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17p13.3 \u30c6\u30ed\u30e1\u30ea\u30c3\u30af\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">17p13.3\u30c6\u30ed\u30e1\u30ea\u30c3\u30af\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u767a\u9054\u9045\u5ef6\u3084\u77e5\u7684\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u75be\u60a3\u3067\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u652f\u63f4\u306b\u3088\u308a\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002\u9577\u671f...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%92_NR0B1%E3%80%80NR0B1%E9%96%A2%E9%80%A3%E5%85%88%E5%A4%A9%E6%80%A7%E5%89%AF%E8%85%8E%E4%BD%8E%E5%BD%A2%E6%88%90%E7%97%87%EF%BC%88NR0B1-Related_Adrenal_Hypoplasia_Congenita%EF%BC%89\"><\/span>[\uff12_NR0B1]\u3000NR0B1\u95a2\u9023\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\uff08NR0B1-Related Adrenal Hypoplasia Congenita\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/79e16a4264adb6ddf1f0638eaa532abf-1024x20.png\" alt=\"Xp21.2\u3000\" class=\"wp-image-91024\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/NR0B1-hgtIdeo_genome_db821_f360c0-1024x20.png\" alt=\"NR0B1\" class=\"wp-image-91048\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>NR0B1\u907a\u4f1d\u5b50\u95a2\u9023\u306e\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\uff08NR0B1-related adrenal hypoplasia congenita, AHC\uff09\u306f\u3001\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001NR0B1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306fX\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08Xp21.2\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u300c\u6838\u53d7\u5bb9\u4f530\uff08Nuclear receptor subfamily 0\uff09\u7fa4B\u306e\u30e1\u30f3\u30d0\u30fc1\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u300c\u5b64\u7acb\u578b\u6838\u53d7\u5bb9\u4f53\uff08Orphan nuclear receptor\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7a2e\u985e\u306e\u5206\u5b50\u3067\u3001\u4f53\u5185\u306e\u91cd\u8981\u306a\u30db\u30eb\u30e2\u30f3\u30b7\u30b9\u30c6\u30e0\u3067\u3042\u308b\u8996\u5e8a\u4e0b\u90e8-\u4e0b\u5782\u4f53-\u526f\u814e-\u6027\u817a\u8ef8\uff08HPAG\u8ef8\uff09\u306e\u767a\u9054\u306b\u5fc5\u8981\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u307e\u305f\u3001\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u4ed6\u306e\u6838\u53d7\u5bb9\u4f53\u306e\u50cd\u304d\u3092\u6291\u5236\u3059\u308b\u5171\u8abf\u7bc0\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u3057\u3066\u3082\u6a5f\u80fd\u3057\u3001\u80da\u306e\u767a\u9054\u3084\u5e79\u7d30\u80de\u306e\u591a\u80fd\u6027\u3092\u7dad\u6301\u3059\u308b\u53ef\u80fd\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>NR0B1\u907a\u4f1d\u5b50\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u3044\u5834\u5408\u3001\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u526f\u814e\u76ae\u8cea\u306e\u6052\u4e45\u7684\u306a\u30be\u30fc\u30f3\uff08\u6210\u4eba\u578b\u306e\u5c64\uff09\u304c\u6b20\u5982\u3057\u3001\u526f\u814e\u306e\u69cb\u9020\u304c\u7570\u5e38\u306b\u306a\u308b\u3053\u3068\u306b\u52a0\u3048\u3001\u526f\u814e\u4e0d\u5168\u3084\u6df1\u523b\u306a\u30db\u30eb\u30e2\u30f3\u4e0d\u8db3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u60a3\u8005\u306f\u901a\u5e38\u3001\u751f\u5f8c\u9593\u3082\u306a\u304f\u4e00\u6b21\u6027\u526f\u814e\u4e0d\u5168\u3092\u767a\u75c7\u3057\u3001\u3053\u308c\u306b\u3088\u308a\u4f53\u5185\u306e\u30db\u30eb\u30e2\u30f3\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u6027\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4f4e\u4e0b\u75c7\uff08hypogonadotropic hypogonadism, HH\uff09\u306b\u3088\u308a\u3001\u6027\u306e\u6210\u719f\u304c\u9045\u308c\u308b\u304b\u3001\u5b8c\u5168\u306b\u306f\u9054\u6210\u3055\u308c\u306a\u3044\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/1988690_s.jpg\" alt=\"\u30d4\u30fc\u30bf\u30fc\u30d1\u30f3\u306e\u8c61\" class=\"wp-image-91070\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u907a\u4f1d\u7684\u306a\u6027\u8cea\u3092\u6301\u3061\u3001X\u9023\u9396\u578b\uff08X\u67d3\u8272\u4f53\u3092\u4ecb\u3059\u308b\u907a\u4f1d\uff09\u307e\u305f\u306f\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u578b\u306e\u907a\u4f1d\u5f62\u5f0f\u3067\u53d7\u3051\u7d99\u304c\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u4e2d\u3067\u3082\u3001\u7279\u306bNR0B1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308b\u3082\u306e\u304cNR0B1\u95a2\u9023\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306f\u5225\u306e\u75be\u60a3\u3067\u3042\u308b46,XY\u6027\u5206\u5316\u7570\u5e382\uff08SRXY2\uff09\u306b\u3082\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002SRXY2\u306f\u3001NR0B1\u907a\u4f1d\u5b50\u3092\u542b\u3080X\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3057\u3066\u3044\u308b\u5834\u5408\u306b\u767a\u75c7\u3059\u308b\u75be\u60a3\u3067\u3001\u907a\u4f1d\u5b50\u7684\u306b\u306f\u7537\u6027\uff0846,XY\uff09\u3067\u3042\u308b\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u5973\u6027\u3068\u3057\u3066\u767a\u80b2\u3057\u307e\u3059\u3002\u3053\u306e\u91cd\u8907\u306b\u3088\u3063\u3066\u3001\u6027\u817a\uff08\u7cbe\u5de3\uff09\u306e\u6b63\u5e38\u306a\u767a\u9054\u304c\u59a8\u3052\u3089\u308c\u3001\u7537\u6027\u304b\u3089\u5973\u6027\u3078\u306e\u6027\u5206\u5316\u304c\u898b\u3089\u308c\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/15640_s.jpg\" alt=\"\u6027\u30db\u30eb\u30e2\u30f3\u30d0\u30e9\u30f3\u30b9\u5d29\u58ca\" class=\"wp-image-91076\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>NR0B1\u95a2\u9023\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\u306b\u306f\u3001X\u9023\u9396\u578b\u526f\u814e\u4f4e\u5f62\u6210\u75c7\uff08X-linked AHC\uff09\u3068Xp21\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u304b\u3064\u3066\u306f\u300c\u8907\u5408\u578b\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\u300d\u3068\u547c\u3070\u308c\u3066\u3044\u305f\u3082\u306e\uff09\u304c\u542b\u307e\u308c\u307e\u3059\u3002X-linked AHC\u3067\u306f\u3001\u4e00\u6b21\u6027\u526f\u814e\u4e0d\u5168\u3084\u6027\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4f4e\u4e0b\u75c7\u304c\u4e3b\u306a\u7279\u5fb4\u3067\u3042\u308a\u3001\u526f\u814e\u4e0d\u5168\u306f\u5178\u578b\u7684\u306b\u4e73\u5150\u671f\u3084\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u6027\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4f4e\u4e0b\u75c7\u306f\u3001\u601d\u6625\u671f\u306e\u9045\u5ef6\u3084\u505c\u6b62\u3068\u3044\u3046\u5f62\u3067\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7a00\u306b\u6210\u4eba\u521d\u671f\u306b\u526f\u814e\u4e0d\u5168\u306e\u9045\u767a\u75c7\u3084\u90e8\u5206\u7684\u306a\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u3001\u4e0d\u598a\u304c\u521d\u3081\u3066\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u8a3a\u65ad\u306f\u3001NR0B1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3084Xp21\u9818\u57df\u306e\u6b20\u5931\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u884c\u308f\u308c\u307e\u3059\u3002\u6cbb\u7642\u306f\u4e3b\u306b\u3001\u526f\u814e\u4e0d\u5168\u306e\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u7ba1\u7406\u3057\u3001\u30b0\u30eb\u30b3\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\u3084\u30df\u30cd\u30e9\u30eb\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\u3092\u88dc\u5145\u3059\u308b\u3053\u3068\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u307e\u305f\u3001\u6027\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4f4e\u4e0b\u75c7\u306b\u5bfe\u3057\u3066\u306f\u3001\u9069\u5207\u306a\u601d\u6625\u671f\u8a98\u5c0e\u3092\u76ee\u7684\u3068\u3057\u305f\u30c6\u30b9\u30c8\u30b9\u30c6\u30ed\u30f3\u7642\u6cd5\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u6cbb\u7642\u306b\u3088\u308a\u3001\u4e8c\u6b21\u6027\u5fb4\u306e\u767a\u9054\u3084\u9aa8\u5bc6\u5ea6\u306e\u7dad\u6301\u304c\u4fc3\u9032\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/22344705_s.jpg\" alt=\"\u3060\u3053\" class=\"wp-image-89778\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u975e\u5e38\u306b\u7a00\u3067\u3042\u308b\u305f\u3081\u3001\u60a3\u8005\u3084\u5bb6\u65cf\u306b\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u5fc3\u7406\u7684\u652f\u63f4\u304c\u5fc5\u8981\u3067\u3059\u3002\u307e\u305f\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u4e0d\u53ef\u6b20\u3067\u3042\u308a\u3001\u30b9\u30c8\u30ec\u30b9\u3084\u75c5\u6c17\u306a\u3069\u306e\u72b6\u6cc1\u306b\u5fdc\u3058\u3066\u30b9\u30c6\u30ed\u30a4\u30c9\u7528\u91cf\u306e\u8abf\u6574\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u7279\u306b\u4e73\u5e7c\u5150\u671f\u306b\u306f\u526f\u814e\u6a5f\u80fd\u306e\u5909\u5316\u304c\u6025\u6fc0\u306b\u8d77\u3053\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u983b\u7e41\u306a\u7d4c\u904e\u89b3\u5bdf\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>NR0B1\u95a2\u9023\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\u306e\u7406\u89e3\u3068\u7ba1\u7406\u306b\u306f\u3001\u5c02\u9580\u7684\u306a\u533b\u7642\u77e5\u8b58\u3068\u5bb6\u65cf\u306e\u5354\u529b\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u9069\u5207\u306a\u6cbb\u7642\u3068\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u306b\u3088\u308a\u3001\u60a3\u8005\u304c\u5065\u5eb7\u3092\u7dad\u6301\u3057\u3001\u53ef\u80fd\u306a\u9650\u308a\u901a\u5e38\u306e\u751f\u6d3b\u3092\u9001\u308c\u308b\u3088\u3046\u652f\u63f4\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%93_GK%E3%80%80%E3%82%B0%E3%83%AA%E3%82%BB%E3%83%AD%E3%83%BC%E3%83%AB%E3%82%AD%E3%83%8A%E3%83%BC%E3%82%BC%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%88Glycerol_kinase_deficiency_GKD%EF%BC%89\"><\/span>[\uff13_GK]\u3000\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08Glycerol kinase deficiency (GKD)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/79e16a4264adb6ddf1f0638eaa532abf-1024x20.png\" alt=\"Xp21.2\u3000\" class=\"wp-image-91024\"\/><\/figure><\/div>\n\n\n<figure class=\"wp-block-image aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/GK-hgtIdeo_genome_e6e6a_f368b0-1024x20.png\" alt=\"GK\n\" class=\"wp-image-91052\"\/><\/figure>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08Glycerol Kinase Deficiency, GKD\uff09\u306f\u3001X\u67d3\u8272\u4f53\u4e0a\u306eGK\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u4ee3\u8b1d\u306b\u304a\u3044\u3066\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u9175\u7d20\u3001\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u306e\u6a5f\u80fd\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u306f\u3001\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u3092\u30ea\u30f3\u9178\u5316\u3057\u3066sn-\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb3-\u30ea\u30f3\u9178\u3092\u751f\u6210\u3059\u308b\u9175\u7d20\u3067\u3059\u3002\u3053\u306e\u751f\u6210\u7269\u306f\u3001\u8102\u8cea\uff08\u30b0\u30ea\u30bb\u30ed\u30ea\u30d4\u30c3\u30c9\u3084\u30c8\u30ea\u30b0\u30ea\u30bb\u30ea\u30c9\uff09\u306e\u5408\u6210\u3001\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u5408\u6210\u3001\u89e3\u7cd6\u7cfb\u3001\u7cd6\u65b0\u751f\u3068\u3044\u3063\u305f\u91cd\u8981\u306a\u4ee3\u8b1d\u7d4c\u8def\u306e\u4e2d\u9593\u4f53\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>GKD\u306f\u3001\u767a\u75c7\u6642\u671f\u3084\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306b\u5fdc\u3058\u3066\u4e73\u5150\u578b\u3001\u5c0f\u5150\u578b\u3001\u6210\u4eba\u578b\u306e3\u3064\u306e\u81e8\u5e8a\u7684\u5f62\u614b\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u4e73\u5150\u578b\u306f\u6700\u3082\u91cd\u75c7\u3067\u3001\u8457\u3057\u3044\u767a\u9054\u9045\u5ef6\u3084\u526f\u814e\u4e0d\u5168\u3092\u4f34\u3046\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u7279\u306b\u65b0\u751f\u5150\u671f\u306b\u306f\u751f\u547d\u3092\u8105\u304b\u3059\u4ee3\u8b1d\u5371\u6a5f\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3001\u5c0f\u5150\u578b\u306f\u75c7\u72b6\u304c\u3084\u3084\u8efd\u5ea6\u3067\u3001\u5614\u5410\u3084\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u610f\u8b58\u969c\u5bb3\u306a\u3069\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u3001\u3057\u3070\u3057\u3070\u65ad\u7d9a\u7684\u306b\u73fe\u308c\u308b\u305f\u3081\u3001\u8a3a\u65ad\u304c\u9045\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u6210\u4eba\u578b\u306f\u7121\u75c7\u72b6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u901a\u5e38\u306f\u8840\u6db2\u691c\u67fb\u4e2d\u306b\u5076\u7136\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u8840\u4e2d\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u6fc3\u5ea6\u306e\u4e0a\u6607\u304c\u30c8\u30ea\u30b0\u30ea\u30bb\u30ea\u30c9\u3068\u3057\u3066\u8aa4\u3063\u3066\u6e2c\u5b9a\u3055\u308c\u308b\u300c\u507d\u9ad8\u30c8\u30ea\u30b0\u30ea\u30bb\u30ea\u30c9\u8840\u75c7\uff08pseudohypertriglyceridemia\uff09\u300d\u3068\u3057\u3066\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28020321_s.jpg\" alt=\"\u5fc3\u81d3\" class=\"wp-image-88825\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u4e73\u5150\u578bGKD\u306f\u300cGK\u8907\u5408\u578b\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u3001Xp21\u9818\u57df\u306b\u304a\u3051\u308b\u9023\u7d9a\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u3053\u306e\u8907\u5408\u578b\u3067\u306f\u3001\u526f\u814e\u76ae\u8cea\u4f4e\u5f62\u6210\u75c7\uff08adrenal hypoplasia congenita, AHC\uff09\u3084\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Duchenne muscular dystrophy, DMD\uff09\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3001\u5c0f\u5150\u578b\u304a\u3088\u3073\u6210\u4eba\u578b\u306f\u3001\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u306e\u307f\u304c\u539f\u56e0\u3068\u306a\u308b\u300c\u5b64\u7acb\u578b\u300d\u3068\u3057\u3066\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b64\u7acb\u578bGKD\u306e\u81e8\u5e8a\u50cf\u306f\u591a\u69d8\u3067\u3042\u308a\u3001\u75c7\u72b6\u306e\u6709\u7121\u3084\u91cd\u75c7\u5ea6\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002\u4f8b\u3048\u3070\u3001\u65b0\u751f\u5150\u671f\u3084\u5e7c\u5150\u671f\u306b\u91cd\u5ea6\u306e\u4ee3\u8b1d\u5371\u6a5f\u3092\u7d4c\u9a13\u3059\u308b\u60a3\u8005\u3082\u3044\u308c\u3070\u3001\u6210\u4eba\u671f\u307e\u3067\u5168\u304f\u75c7\u72b6\u304c\u73fe\u308c\u306a\u3044\u60a3\u8005\u3082\u3044\u307e\u3059\u3002\u75c7\u72b6\u3092\u6301\u3064\u60a3\u8005\u3067\u306f\u3001\u5614\u5410\u3084\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u3001\u4ee3\u8b1d\u30b9\u30c8\u30ec\u30b9\uff08\u4f8b\u3048\u3070\u3001\u611f\u67d3\u75c7\u3084\u98e2\u9913\u72b6\u614b\uff09\u306b\u3088\u308a\u3053\u308c\u3089\u306e\u75c7\u72b6\u304c\u60aa\u5316\u3059\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u6cbb\u7642\u306e\u4e00\u74b0\u3068\u3057\u3066\u4f4e\u8102\u80aa\u98df\u3092\u5c0e\u5165\u3059\u308b\u3053\u3068\u3067\u3001\u75c7\u72b6\u304c\u5927\u5e45\u306b\u6539\u5584\u3059\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31510744_s.jpg\" alt=\"\u7d46\u5275\u818f\" class=\"wp-image-88803\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>GKD\u306fX\u9023\u9396\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3042\u308a\u3001\u4e3b\u306b\u7537\u6027\u306b\u767a\u75c7\u3057\u307e\u3059\u304c\u3001\u5973\u6027\u3082\u30ad\u30e3\u30ea\u30a2\u3068\u3057\u3066\u8efd\u5ea6\u306e\u75c7\u72b6\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u90e8\u306e\u7814\u7a76\u3067\u306f\u3001\u4ee3\u8b1d\u30b9\u30c8\u30ec\u30b9\u3084\u74b0\u5883\u8981\u56e0\u304c\u5c0f\u5150\u578b\u306e\u75c7\u72b6\u767a\u73fe\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u304a\u308a\u3001\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u591a\u578b\u304cGKD\u306e\u81e8\u5e8a\u50cf\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3053\u3068\u3082\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u30d5\u30e9\u30f3\u30b9\u7cfb\u30ab\u30ca\u30c0\u4eba\u306e\u5bb6\u7cfb\u3092\u5bfe\u8c61\u3068\u3057\u305f\u7814\u7a76\u3067\u306f\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\uff08N288D\uff09\u304c\u91cd\u5ea6\u306e\u9ad8\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u8840\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u4e00\u65b9\u3067\u3001\u60a3\u8005\u306e\u5065\u5eb7\u72b6\u614b\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u306a\u3044\u5834\u5408\u304c\u3042\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u7814\u7a76\u304b\u3089\u3001\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u6fc3\u5ea6\u304c\u30d6\u30c9\u30a6\u7cd6\u4ee3\u8b1d\u3084\u4f53\u8102\u80aa\u5206\u5e03\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3001GKD\u304c\u5358\u306b\u4ee3\u8b1d\u7570\u5e38\u306e\u7bc4\u56f2\u3092\u8d85\u3048\u3066\u8907\u96d1\u306a\u751f\u7406\u5b66\u7684\u5f71\u97ff\u3092\u6301\u3064\u75be\u60a3\u3067\u3042\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31336336_s.jpg\" alt=\"\u5065\u5eb7\u8a3a\u65ad\u5b50\u4f9b\" class=\"wp-image-87802\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>GKD\u306e\u8a3a\u65ad\u306f\u3001\u8840\u6db2\u3084\u5c3f\u4e2d\u306e\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u6fc3\u5ea6\u3092\u6e2c\u5b9a\u3059\u308b\u751f\u5316\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\u3059\u304c\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308a\u78ba\u5b9a\u8a3a\u65ad\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u4e73\u5150\u578b\u3084\u5c0f\u5150\u578b\u3067\u306f\u3001\u65e9\u671f\u306e\u8a3a\u65ad\u3068\u6cbb\u7642\u304c\u4e88\u5f8c\u306e\u6539\u5584\u306b\u91cd\u8981\u3067\u3059\u3002\u6cbb\u7642\u306b\u306f\u3001\u4ee3\u8b1d\u5371\u6a5f\u306e\u4e88\u9632\u3084\u75c7\u72b6\u7de9\u548c\u3092\u76ee\u7684\u3068\u3057\u305f\u98df\u4e8b\u7642\u6cd5\u3084\u5bfe\u75c7\u7642\u6cd5\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>GKD\u306f\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u305d\u306e\u591a\u69d8\u306a\u81e8\u5e8a\u50cf\u3092\u7406\u89e3\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u3055\u3089\u306a\u308b\u7814\u7a76\u3068\u6ce8\u610f\u6df1\u3044\u8a3a\u65ad\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u9069\u5207\u306a\u7ba1\u7406\u304c\u884c\u308f\u308c\u308c\u3070\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%94_DMD%E3%80%80%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%8E%E3%83%91%E3%83%81%E3%83%BC%E3%80%81%E3%83%87%E3%83%A5%E3%82%B7%E3%82%A7%E3%83%B3%E3%83%8C%E5%9E%8B%E7%AD%8B%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC%E3%80%81%E6%8B%A1%E5%BC%B5%E5%9E%8B%E5%BF%83%E7%AD%8B%E7%97%87%EF%BC%88Dystrophinopathies_Duchenne_muscular_dystrophy_DMD_Dilated_Cardiomyopathy%EF%BC%89\"><\/span>[\uff14_DMD]\u3000\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30ce\u30d1\u30c1\u30fc\u3001\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08Dystrophinopathies, Duchenne muscular dystrophy (DMD), Dilated Cardiomyopathy\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/79e16a4264adb6ddf1f0638eaa532abf-1024x20.png\" alt=\"Xp21.2\u3000\" class=\"wp-image-91024\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/DMD-hgtIdeo_genome_ecb70_f36cd0-1024x20.png\" alt=\"DMD\" class=\"wp-image-91055\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30ce\u30d1\u30b7\u30fc\uff08Dystrophinopathies\uff09\u306f\u3001\u7b4b\u8089\u3084\u5fc3\u81d3\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308bX\u67d3\u8272\u4f53\u9023\u9396\u6027\u75be\u60a3\u306e\u7dcf\u79f0\u3067\u3042\u308a\u3001\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Duchenne muscular dystrophy, DMD\uff09\u3001\u30d9\u30c3\u30ab\u30fc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Becker muscular dystrophy, BMD\uff09\u3001\u304a\u3088\u3073DMD\u95a2\u9023\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DMD-associated dilated cardiomyopathy, DCM\uff09\u3092\u542b\u307f\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u7fa4\u306e\u539f\u56e0\u306f\u3001X\u67d3\u8272\u4f53\u306eXp21.1\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bDMD\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<p>DMD\u907a\u4f1d\u5b50\u306f\u4eba\u9593\u306e\u4e2d\u3067\u6700\u5927\u306e\u907a\u4f1d\u5b50\u3067\u3001\u7d04240\u4e07\u5869\u57fa\u5bfe\u3068\u975e\u5e38\u306b\u5927\u304d\u306a\u69cb\u9020\u3092\u6301\u3061\u300179\u500b\u306e\u30a8\u30af\u30bd\u30f3\u304b\u3089\u69cb\u6210\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u8ee2\u5199\u3068\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u306b\u306f16\u6642\u9593\u4ee5\u4e0a\u3092\u8981\u3057\u307e\u3059\u3002DMD\u907a\u4f1d\u5b50\u304c\u30b3\u30fc\u30c9\u3059\u308b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\uff08Dystrophin\uff09\u306f\u3001\u7d30\u80de\u9aa8\u683c\u3068\u7d30\u80de\u5916\u30de\u30c8\u30ea\u30c3\u30af\u30b9\u3092F-\u30a2\u30af\u30c1\u30f3\u3092\u4ecb\u3057\u3066\u7d50\u3073\u4ed8\u3051\u3001\u7b4b\u8089\u7d30\u80de\u306e\u819c\uff08\u7b4b\u7dda\u7dad\u819c\uff09\u3092\u5b89\u5b9a\u5316\u3055\u305b\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u306f\u4fe1\u53f7\u4f1d\u9054\u3084\u30b7\u30ca\u30d7\u30b9\u4f1d\u9054\u306b\u3082\u95a2\u4e0e\u3057\u3001\u795e\u7d4c\u7b4b\u63a5\u5408\u90e8\u3084\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u30b7\u30ca\u30d7\u30b9\u3067\u91cd\u8981\u306a\u69cb\u6210\u8981\u7d20\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31295071_s-1.jpg\" alt=\"\u624b\u624b(\u624b)\" class=\"wp-image-88946\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong>\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08DMD\uff09<\/strong><br>DMD\u306f\u6700\u3082\u4e00\u822c\u7684\u306a\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3067\u3001\u4f34\u6027\u6f5c\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u53d6\u308a\u307e\u3059\u3002\u3053\u308c\u306fX\u67d3\u8272\u4f53\u4e0a\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u305f\u3081\u3001\u4e3b\u306b\u7537\u6027\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u901a\u5e38\u30013\uff5e7\u6b73\u306e\u5e7c\u5150\u671f\u306b\u8fd1\u4f4d\u7b4b\uff08\u4f53\u5e79\u306b\u8fd1\u3044\u7b4b\u8089\uff09\u306e\u7b4b\u529b\u4f4e\u4e0b\u3068\u3057\u3066\u73fe\u308c\u307e\u3059\u3002\u521d\u671f\u75c7\u72b6\u306b\u306f\u3001\u6b69\u884c\u6642\u306e\u3088\u308d\u3081\u304d\u3001\u3064\u307e\u5148\u6b69\u304d\u3001\u983b\u7e41\u306a\u8ee2\u5012\u3001\u968e\u6bb5\u3092\u4e0a\u308b\u56f0\u96e3\u3001\u8170\u90e8\u524d\u5f2f\uff08\u30ed\u30eb\u30c9\u30fc\u30b7\u30b9\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u7b4b\u529b\u4f4e\u4e0b\u306f\u9aa8\u76e4\u5e2f\u306e\u7b4b\u8089\u304b\u3089\u59cb\u307e\u308a\u3001\u305d\u306e\u5f8c\u3001\u80a9\u5e2f\u306e\u7b4b\u8089\u306b\u5e83\u304c\u308a\u307e\u3059\u3002\u9032\u884c\u306f\u901f\u304f\u3001\u591a\u304f\u306e\u60a3\u8005\u304c10\uff5e12\u6b73\u9803\u307e\u3067\u306b\u8eca\u6905\u5b50\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u95a2\u7bc0\u306e\u62d8\u7e2e\u3084\u810a\u67f1\u5074\u5f2f\u75c7\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u80fd\u306b\u3082\u5f71\u97ff\u304c\u53ca\u3076\u5834\u5408\u304c\u3042\u308a\u3001\u7d0450%\u306e\u60a3\u8005\u3067\u5e73\u5747\u3088\u308a\u3082\u4f4e\u3044IQ\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u9032\u884c\u6027\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002DMD\u306f\u9032\u884c\u6027\u306e\u75be\u60a3\u3067\u3042\u308a\u300118\u6b73\u4ee5\u964d\u306b\u306f\u307b\u307c\u5168\u3066\u306e\u60a3\u8005\u3067\u5fc3\u7b4b\u75c7\uff08\u5fc3\u81d3\u306e\u7b4b\u8089\u304c\u5f31\u307e\u308b\u72b6\u614b\uff09\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u547c\u5438\u5668\u5408\u4f75\u75c7\u3084\u5fc3\u7b4b\u75c7\u304c\u4e3b\u306a\u6b7b\u56e0\u3068\u306a\u308a\u3001\u591a\u304f\u306e\u5834\u5408\u300130\u6b73\u524d\u5f8c\u3067\u6b7b\u4ea1\u3057\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u8fd1\u5e74\u306e\u6cbb\u7642\u6cd5\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u305d\u308c\u4ee5\u4e0a\u306e\u5bff\u547d\u3092\u6301\u3064\u60a3\u8005\u3082\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/23563734_s.jpg\" alt=\"\u6b8b\u308a\u306e\u4e00\u7dd2\u306b\u3044\u3089\u308c\u308b\u6642\u9593\u306f\u5927\u5207\u306b\" class=\"wp-image-91081\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong>\u30d9\u30c3\u30ab\u30fc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08BMD\uff09<\/strong><br>BMD\u306fDMD\u3088\u308a\u3082\u75c7\u72b6\u304c\u8efd\u304f\u3001\u767a\u75c7\u5e74\u9f62\u3082\u5e45\u304c\u3042\u308a\u307e\u3059\uff085\uff5e15\u6b73\uff09\u3002\u75c7\u72b6\u306e\u9032\u884c\u306f\u3086\u3063\u304f\u308a\u3067\u3001\u8efd\u75c7\u4f8b\u3067\u306f30\u6b73\u3092\u904e\u304e\u3066\u3082\u6b69\u884c\u53ef\u80fd\u306a\u5834\u5408\u304c\u3042\u308a\u300160\u4ee3\u4ee5\u964d\u307e\u3067\u751f\u5b58\u3059\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u3001\u5fc3\u7b4b\u75c7\u304c\u521d\u767a\u75c7\u72b6\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002BMD\u306fDMD\u3088\u308a\u3082\u75c7\u72b6\u304c\u8efd\u5ea6\u3067\u3059\u304c\u3001\u5fc3\u7b4b\u75c7\u304c\u9032\u884c\u3059\u308b\u3068\u5fc3\u4e0d\u5168\u304c\u4e3b\u306a\u6b7b\u4ea1\u539f\u56e0\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/lgmdr1-calpainopathy-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc1\u578b\uff08LGMDR1\uff09\uff3b\u30ab\u30ea\u30d1\u30ce\u30d1\u30c1\u30fc\u3001\u65e7\u540d\uff1aLGMD2A\uff3d\u3010CAPN3\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30bf\u30a4\u30d7R1\uff08LGMDR1\uff0f\u30ab\u30ea\u30d1\u30ce\u30d1\u30c1\u30fc\uff09\u306b\u3064\u3044\u3066\u3001\u907a\u4f1d\u3084\u75c7\u72b6\u3001\u691c\u67fb\u3001\u6cbb\u7642\u3092\u3084\u3055\u3057\u3044\u8a00\u8449\u3067\u3066\u3044\u306d\u3044\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002\uff5c\u30d2...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"453\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24266476_s.jpg\" alt=\"\u3066\u306e\u3072\u3089\u3067\u3053\u3053\u308d\" class=\"wp-image-91084\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong>DMD\u95a2\u9023\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DCM\uff09<\/strong><br>DMD\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u5fc3\u81d3\u306e\u69cb\u9020\u3084\u6a5f\u80fd\u306b\u3082\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u305d\u306e\u7d50\u679c\u3068\u3057\u3066DCM\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u5fc3\u5ba4\u306e\u62e1\u5f35\u3068\u53ce\u7e2e\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3092\u7279\u5fb4\u3068\u3057\u3001\u5fc3\u4e0d\u5168\u3084\u4e0d\u6574\u8108\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u7537\u6027\u3067\u306f\u901a\u5e3810\u4ee3\u5f8c\u534a\u304b\u308920\u4ee3\u3067\u767a\u75c7\u3057\u3001\u9032\u884c\u306f\u975e\u5e38\u306b\u901f\u304f\u3001\u8a3a\u65ad\u5f8c1\uff5e2\u5e74\u4ee5\u5185\u306b\u6b7b\u4ea1\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5973\u6027\u306e\u4fdd\u56e0\u8005\u3067\u306f40\uff5e50\u4ee3\u4ee5\u964d\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u7537\u6027\u306b\u6bd4\u3079\u3066\u9032\u884c\u306f\u7de9\u3084\u304b\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/22349176_s.jpg\" alt=\"XX XY\" class=\"wp-image-89652\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong>\u8a3a\u65ad\u3068\u6cbb\u7642<\/strong><br>DMD\u3084BMD\u306e\u8a3a\u65ad\u306f\u3001\u8840\u6db2\u4e2d\u306e\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff08CK\uff09\u306e\u7570\u5e38\u306a\u4e0a\u6607\u3084\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\u3059\u3002\u6cbb\u7642\u306b\u306f\u3001ACE\u963b\u5bb3\u85ac\u3084\u03b2\u906e\u65ad\u85ac\u3092\u7528\u3044\u305f\u5fc3\u7b4b\u75c7\u306e\u7ba1\u7406\u3084\u3001\u30b9\u30c6\u30ed\u30a4\u30c9\u7642\u6cd5\u306b\u3088\u308b\u7b4b\u529b\u7dad\u6301\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u30b9\u30c6\u30ed\u30a4\u30c9\u6cbb\u7642\u306f\u6b69\u884c\u56f0\u96e3\u5f8c\u3082\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u52b9\u679c\u304c\u3042\u308a\u3001\u5fc3\u80ba\u6a5f\u80fd\u306e\u7dad\u6301\u3092\u76ee\u7684\u306b\u7d9a\u3051\u3089\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u7406\u5b66\u7642\u6cd5\u3084\u547c\u5438\u7ba1\u7406\u3001\u6804\u990a\u7642\u6cd5\u306a\u3069\u306e\u591a\u8077\u7a2e\u30a2\u30d7\u30ed\u30fc\u30c1\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u751f\u6d3b\u7ba1\u7406\u3068\u4e88\u5f8c<\/strong><br>\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u5fc3\u81d3\u3084\u547c\u5438\u5668\u306e\u8a55\u4fa1\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u9aa8\u5bc6\u5ea6\u3092\u7dad\u6301\u3059\u308b\u305f\u3081\u306e\u30d3\u30bf\u30df\u30f3D\u3084\u30ab\u30eb\u30b7\u30a6\u30e0\u306e\u6442\u53d6\u3001\u4f53\u91cd\u7ba1\u7406\u3001\u9069\u5207\u306a\u7406\u5b66\u7642\u6cd5\u304c\u91cd\u8981\u3067\u3059\u3002\u4fdd\u56e0\u8005\u306e\u5973\u6027\u306b\u304a\u3044\u3066\u3082\u3001\u5fc3\u7b4b\u75c7\u306e\u65e9\u671f\u767a\u898b\u3068\u6cbb\u7642\u3092\u76ee\u7684\u3068\u3057\u305f\u5b9a\u671f\u7684\u306a\u5fc3\u81d3\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u307e\u3068\u3081<\/strong><br>\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30ce\u30d1\u30b7\u30fc\u306f\u9032\u884c\u6027\u3067\u6df1\u523b\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u8fd1\u5e74\u306e\u6cbb\u7642\u6cd5\u3084\u7ba1\u7406\u306e\u9032\u6b69\u306b\u3088\u308a\u60a3\u8005\u306e\u4e88\u5f8c\u306f\u6539\u5584\u3057\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u5b50\u6cbb\u7642\u3092\u542b\u3080\u7814\u7a76\u306e\u9032\u5c55\u306b\u3088\u308a\u3001\u3055\u3089\u306a\u308b\u6cbb\u7642\u6cd5\u306e\u53ef\u80fd\u6027\u304c\u5e83\u304c\u3063\u3066\u3044\u307e\u3059\u3002\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u304c\u5fc5\u8981\u306a\u30b1\u30a2\u3084\u652f\u63f4\u3092\u53d7\u3051\u3089\u308c\u308b\u3088\u3046\u3001\u7406\u89e3\u3068\u5553\u767a\u304c\u9032\u3080\u3053\u3068\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1119\/\">Darras BT, Urion DK, Ghosh PS. Dystrophinopathies. 2000 Sep 5 [Updated 2022 Jan 20]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1119\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1309\/\">Hershberger RE, Jordan E. Dilated Cardiomyopathy Overview. 2007 Jul 27 [Updated 2024 Dec 12]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1309\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1023\/A:1005660826652\">Sjarif, D. R., Ploos Van Amstel, J. K., Duran, M., Beemer, F. A., &amp; Poll\u2010The, B. T. (2000). Isolated and contiguous glycerol kinase gene disorders: A review. <em>Journal of Inherited Metabolic Disease<\/em>, <em>23<\/em>(6), 529\u2013547. https:\/\/doi.org\/10.1023\/A:1005660826652<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1431\/\">Achermann JC, Vilain EJ. NR0B1-Related Adrenal Hypoplasia Congenita. 2001 Nov 20 [Updated 2018 Jan 25]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1431\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/sj.ejhg.5200415\">Jin, H., Gardner, R. J., Viswesvaraiah, R., Muntoni, F., &amp; Roberts, R. G. (2000). 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