{"id":83559,"date":"2024-11-15T14:16:00","date_gmt":"2024-11-15T05:16:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83559"},"modified":"2026-03-04T13:00:41","modified_gmt":"2026-03-04T04:00:41","slug":"12p12-1-microdeletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/12p12-1-microdeletion-syndrome\/","title":{"rendered":"12p12.1\u5fae\u5c0f\u6b20\u5931\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>\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\u304c\u5e0c\u5c11\u75be\u60a3\u306e\u767a\u75c7\u306b\u3069\u306e\u3088\u3046\u306b\u95a2\u4e0e\u3059\u308b\u306e\u304b\u3092\u3054\u5b58\u3058\u3067\u3059\u304b\uff1f\u672c\u8a18\u4e8b\u3067\u306f\u300112p12.1\u306b\u3042\u308bSOX5\u3001SLCO1B1\u3001KCNJ8\u3001ABCC9\u3001KRAS\u306e\u907a\u4f1d\u5b50\u3068\u3001\u305d\u308c\u3089\u304c\u95a2\u4e0e\u3059\u308b\u75be\u60a3\uff08\u30e9\u30e0\u30fb\u30b7\u30a7\u30fc\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\u3001\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u3001\u30ab\u30f3\u30c8\u30a5\u30fc\u75c7\u5019\u7fa4\u3001\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u3001\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\uff09\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002\u6700\u65b0\u306e\u7814\u7a76\u6210\u679c\u3092\u3082\u3068\u306b\u3001\u305d\u308c\u305e\u308c\u306e\u75be\u60a3\u306e\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u306e\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u3082\u8a73\u3057\u304f\u7d39\u4ecb\u3057\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\" 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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\/12p12-1-microdeletion-syndrome\/#%EF%BC%91_SOX5%E3%80%80%E3%83%A9%E3%83%A0%E3%83%BB%E3%82%B7%E3%82%A7%E3%83%BC%E3%83%95%E3%82%A1%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Lamb-Shaffer_syndrome%EF%BC%89\" >[\uff11_SOX5]\u3000\u30e9\u30e0\u30fb\u30b7\u30a7\u30fc\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff08Lamb-Shaffer syndrome\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\/12p12-1-microdeletion-syndrome\/#%EF%BC%92_SLCO1B1%E3%80%80%E3%83%AD%E3%83%BC%E3%82%BF%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Rotor_Syndrome%EF%BC%89\" >[\uff12_SLCO1B1]\u3000\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\uff08Rotor Syndrome\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\/12p12-1-microdeletion-syndrome\/#%EF%BC%93_KCNJ8%E3%80%80%E3%82%AB%E3%83%B3%E3%83%88%E3%82%A5%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%83%96%E3%83%AB%E3%82%AC%E3%83%80%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Cantu_Syndrome_Brugada_Syndrome%EF%BC%89\" >[\uff13_KCNJ8]\u3000\u30ab\u30f3\u30c8\u30a5\u30fc\u75c7\u5019\u7fa4;\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\uff08Cant\u00fa Syndrome; Brugada Syndrome\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\/12p12-1-microdeletion-syndrome\/#%EF%BC%94_ABCC9%E3%80%80%E3%82%AB%E3%83%B3%E3%83%88%E3%82%A5%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%83%96%E3%83%AB%E3%82%AC%E3%83%80%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Cantu_Syndrome_Brugada_Syndrome%EF%BC%89\" >[\uff14_ABCC9]\u3000\u30ab\u30f3\u30c8\u30a5\u30fc\u75c7\u5019\u7fa4;\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\uff08Cant\u00fa Syndrome; Brugada Syndrome\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\/12p12-1-microdeletion-syndrome\/#%EF%BC%95_KRAS%E3%80%80%E3%83%8C%E3%83%BC%E3%83%8A%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Noonan_Syndrome%EF%BC%89\" >[\uff15_KRAS]\u3000\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\uff08Noonan Syndrome\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12p12-1-microdeletion-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\/12p12.1-hgtIdeo_genome_31c539_2ee440-1024x20.png\" alt=\"12p12.1\" class=\"wp-image-92610\"\/><\/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><strong>\u95a2\u9023\u75be\u60a3<\/strong><\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong><strong>Associated disease description(s)<\/strong><\/strong><\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11<\/td><td class=\"has-text-align-center\" data-align=\"center\">SOX5<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30e9\u30e0\u30fb\u30b7\u30a7\u30fc\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4<\/td><td class=\"has-text-align-center\" data-align=\"center\">Lamb-Shaffer syndrome<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff12<\/td><td class=\"has-text-align-center\" data-align=\"center\">SLCO1B1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4<\/td><td class=\"has-text-align-center\" data-align=\"center\">Rotor Syndrome<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff13<\/td><td class=\"has-text-align-center\" data-align=\"center\">KCNJ8<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30ab\u30f3\u30c8\u30a5\u30fc\u75c7\u5019\u7fa4;\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4<\/td><td class=\"has-text-align-center\" data-align=\"center\">Cant\u00fa Syndrome; Brugada Syndrome<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff14<\/td><td class=\"has-text-align-center\" data-align=\"center\">ABCC9<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30ab\u30f3\u30c8\u30a5\u30fc\u75c7\u5019\u7fa4;\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4<\/td><td class=\"has-text-align-center\" data-align=\"center\">Cant\u00fa Syndrome; Brugada Syndrome<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff15<\/td><td class=\"has-text-align-center\" data-align=\"center\">KRAS<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4<\/td><td class=\"has-text-align-center\" data-align=\"center\">Noonan Syndrome<\/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=\"930\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chromo12-MeROcIHLUdPcKAOLdMAAAHRc.png\" alt=\"chromo12 \" class=\"wp-image-92617\"\/><\/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_SOX5%E3%80%80%E3%83%A9%E3%83%A0%E3%83%BB%E3%82%B7%E3%82%A7%E3%83%BC%E3%83%95%E3%82%A1%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Lamb-Shaffer_syndrome%EF%BC%89\"><\/span>[\uff11_SOX5]\u3000\u30e9\u30e0\u30fb\u30b7\u30a7\u30fc\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff08Lamb-Shaffer syndrome\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\/12p12.1-hgtIdeo_genome_31c539_2ee440-1024x20.png\" alt=\"12p12.1\" class=\"wp-image-92610\"\/><\/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\/SOX5-hgtIdeo_genome_324c65_2ef4f0-1024x20.png\" alt=\"\" class=\"wp-image-92613\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Lamb-Shaffer\u75c7\u5019\u7fa4\uff08\u30e9\u30e0\u30fb\u30b7\u30a7\u30fc\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\u3001LSS\uff09\u306f\u3001SOX5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3067\u3059\u3002SOX5\u907a\u4f1d\u5b50\u306f\u3001\u8133\u306e\u767a\u9054\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u591a\u304f\u306e\u751f\u7269\u5b66\u7684\u30d7\u30ed\u30bb\u30b9\u306b\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u751f\u3058\u308b\u3068\u3001\u767a\u9054\u306e\u9045\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u73fe\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u7279\u6709\u306e\u9854\u306e\u7279\u5fb4\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u9aa8\u683c\u306e\u7570\u5e38\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>LSS\u306f\u3001\u7b2c12\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff0812p12.1\uff09\u306b\u3042\u308bSOX5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u751f\u3057\u307e\u3059\u3002SOX5\u306f\u3001\u7d30\u80de\u306e\u6210\u9577\u3084\u5206\u5316\u3092\u8abf\u7bc0\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u7279\u306b\u795e\u7d4c\u7cfb\u3084\u9aa8\u683c\u306e\u767a\u9054\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002LSS\u306f\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\u300d\u3068\u547c\u3070\u308c\u308b\u72b6\u614b\u304c\u539f\u56e0\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u907a\u4f1d\u5b50\u306e\u7247\u65b9\u306e\u30b3\u30d4\u30fc\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u3044\u305f\u3081\u306b\u3001\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5341\u5206\u306b\u4f5c\u3089\u308c\u305a\u3001\u767a\u9054\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u73fe\u8c61\u3067\u3059\u3002SOX5\u306fSOX\u907a\u4f1d\u5b50\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u542b\u307e\u308c\u308b\u4ed6\u306e\u907a\u4f1d\u5b50\u3082\u3001\u3055\u307e\u3056\u307e\u306a\u767a\u9054\u969c\u5bb3\u3068\u306e\u95a2\u9023\u304c\u6307\u6458\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=\"309\" height=\"234\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/AF-P35711-F1.png\" alt=\"SOX5 Transcription factor SOX-5\" class=\"wp-image-92630\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>LSS\u306e\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u3001\u8868\u51fa\uff08\u8a71\u3059\u80fd\u529b\uff09\u306e\u969c\u5bb3\u304c\u9855\u8457\u3067\u3042\u308a\u3001\u91cd\u5ea6\u306e\u767a\u8a71\u56f0\u96e3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4ed6\u3001\u591a\u52d5\u3084\u6ce8\u610f\u6b20\u9665\uff08ADHD\u306e\u3088\u3046\u306a\u75c7\u72b6\uff09\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306b\u95a2\u9023\u3059\u308b\u7279\u5fb4\u3001\u8996\u529b\u306e\u554f\u984c\u3001\u3055\u3089\u306b\u306f\u767a\u4f5c\uff08\u3051\u3044\u308c\u3093\uff09\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u9854\u306e\u7279\u5fb4\u3068\u3057\u3066\u306f\u3001\u5e45\u5e83\u3044\u9f3b\u6881\uff08\u9f3b\u306e\u4ed8\u3051\u6839\uff09\u3001\u304f\u307c\u3093\u3060\u76ee\u3001\u5e83\u3044\u53e3\u3068\u539a\u3044\u5507\u3001\u5c0f\u3055\u306a\u3042\u3054\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u4f4e\u8eab\u9577\u3001\u5074\u5f2f\u75c7\uff08\u810a\u67f1\u306e\u6e7e\u66f2\uff09\u3001\u95a2\u7bc0\u306e\u904e\u53ef\u52d5\u6027\uff08\u95a2\u7bc0\u304c\u901a\u5e38\u3088\u308a\u67d4\u3089\u304b\u3044\u72b6\u614b\uff09\u3082\u898b\u3089\u308c\u307e\u3059\u3002\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u306f\u3001\u75db\u307f\u306b\u920d\u611f\u306a\u50be\u5411\u3084\u9060\u8996\uff08\u8fd1\u304f\u306e\u3082\u306e\u304c\u307c\u3084\u3051\u308b\u8996\u529b\u969c\u5bb3\uff09\u304c\u3001\u5f93\u6765\u8003\u3048\u3089\u308c\u3066\u3044\u305f\u3088\u308a\u3082LSS\u306e\u60a3\u8005\u306b\u591a\u304f\u898b\u3089\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>2024\u5e74\u306e\u6642\u70b9\u3067\u3001\u4e16\u754c\u3067\u5c11\u306a\u304f\u3068\u3082113\u4f8b\u306eLSS\u60a3\u8005\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u306e\u75be\u60a3\u306f\u975e\u5e38\u306b\u307e\u308c\u3067\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u30b1\u30fc\u30b9\u3082\u591a\u304f\u3001\u5b9f\u969b\u306e\u60a3\u8005\u6570\u306f\u3053\u308c\u3088\u308a\u3082\u591a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u30022020\u5e74\u306b\u884c\u308f\u308c\u305f\u7814\u7a76\u3067\u306f\u300141\u4eba\u306e\u60a3\u8005\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3092\u5206\u6790\u3057\u305f\u7d50\u679c\u3001SOX5\u306e\u5909\u7570\u306b\u306f\u4e3b\u306b3\u3064\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3057\u305f\u3002\u305d\u308c\u306f\u3001\u6b20\u5931\uff08\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u308b\uff09\u3001\u5207\u65ad\u578b\u5909\u7570\uff08\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u9014\u4e2d\u3067\u4f5c\u3089\u308c\u306a\u304f\u306a\u308b\uff09\u3001\u304a\u3088\u3073\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff08\u30a2\u30df\u30ce\u9178\u306e\u7f6e\u63db\u304c\u751f\u3058\u308b\uff09\u3067\u3059\u3002\u7279\u306b\u3001\u591a\u304f\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306f\u3001SOX5\u306e\u300cHMG\uff08\u30cf\u30a4\u30e2\u30d3\u30ea\u30c6\u30a3\u30b0\u30eb\u30fc\u30d7\uff09\u30c9\u30e1\u30a4\u30f3\u300d\u3068\u547c\u3070\u308c\u308bDNA\u7d50\u5408\u9818\u57df\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u8abf\u7bc0\u6a5f\u80fd\u3092\u640d\u306a\u3046\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001HMG\u30c9\u30e1\u30a4\u30f3\u5916\u3067\u767a\u751f\u3057\u305f\u5909\u7570\u306f\u3001\u6bd4\u8f03\u7684\u8efd\u5ea6\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u50be\u5411\u304c\u3042\u308b\u3082\u306e\u306e\u3001\u907a\u4f1d\u5b50\u5909\u7570\u306e\u7a2e\u985e\u3068\u75c7\u72b6\u306e\u91cd\u3055\u3068\u306e\u9593\u306b\u660e\u78ba\u306a\u95a2\u9023\u6027\u306f\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u305b\u3093\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\/23282803_s.jpg\" alt=\"\u6570\u3048\u305f\u3089\u5bdd\u308c\u308b\u304b\u306a\u3041\" class=\"wp-image-90873\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>SOX5\u306f\u3001\u4eba\u306e\u767a\u9054\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u6301\u3064SOX\u907a\u4f1d\u5b50\u30d5\u30a1\u30df\u30ea\u30fc\u306e\u4e00\u54e1\u3067\u3042\u308a\u3001\u6027\u306e\u6c7a\u5b9a\u3001\u9aa8\u683c\u5f62\u6210\u3001\u795e\u7d4c\u767a\u9054\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u30d7\u30ed\u30bb\u30b9\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001SOX9\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u300c\u30ad\u30e3\u30f3\u30dd\u30e1\u30ea\u30c3\u30af\u7570\u5f62\u6210\u300d\u3068\u547c\u3070\u308c\u308b\u9aa8\u306e\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001SOX18\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306f\u300c\u4f4e\u6bdb\u75c7\u30fb\u30ea\u30f3\u30d1\u6d6e\u816b\u30fb\u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\u75c7\u75c7\u5019\u7fa4\u300d\u3068\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002\u52d5\u7269\u5b9f\u9a13\u3067\u306f\u3001SOX5\u304c\u5b8c\u5168\u306b\u6b20\u5931\u3059\u308b\u3068\u3001\u91cd\u5ea6\u306e\u9aa8\u683c\u7570\u5e38\u3084\u795e\u7d4c\u306e\u767a\u9054\u7570\u5e38\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u3001\u907a\u4f1d\u5b50\u306e\u7247\u65b9\u306e\u307f\u304c\u5909\u7570\u3059\u308b\u5834\u5408\uff08\u30d8\u30c6\u30ed\u63a5\u5408\uff09\u3067\u306f\u3001\u5f71\u97ff\u304c\u6bd4\u8f03\u7684\u8efd\u6e1b\u3055\u308c\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>LSS\u306f\u300c\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\uff08\u9855\u6027\u907a\u4f1d\uff09\u300d\u306e\u5f62\u5f0f\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u3001SOX5\u907a\u4f1d\u5b50\u306e\u7247\u65b9\u306b\u5909\u7570\u304c\u3042\u308b\u3060\u3051\u3067\u75be\u60a3\u304c\u767a\u75c7\u3059\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u73fe\u5728\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u300c\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u300d\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u5f8c\u306b\u65b0\u305f\u306b\u767a\u751f\u3057\u305f\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u975e\u5e38\u306b\u307e\u308c\u3067\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u304c\u96e3\u3057\u304f\u3001\u4eca\u5f8c\u306e\u7814\u7a76\u306b\u3088\u3063\u3066\u3001\u3088\u308a\u8a73\u7d30\u306a\u75c7\u72b6\u306e\u7bc4\u56f2\u3084\u767a\u75c7\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3001\u6cbb\u7642\u6cd5\u306e\u53ef\u80fd\u6027\u304c\u660e\u3089\u304b\u306b\u3055\u308c\u308b\u3053\u3068\u304c\u671f\u5f85\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>LSS\u306e\u65e9\u671f\u8a3a\u65ad\u306f\u3001\u9069\u5207\u306a\u6cbb\u7642\u3084\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002\u65e9\u671f\u306b\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u5c02\u9580\u7684\u306a\u6559\u80b2\u652f\u63f4\u3084\u533b\u7642\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u5bb6\u65cf\u304c\u75be\u60a3\u306b\u3064\u3044\u3066\u6df1\u304f\u7406\u89e3\u3057\u3001\u5c06\u6765\u306e\u598a\u5a20\u306b\u304a\u3051\u308b\u30ea\u30b9\u30af\u3092\u8003\u616e\u3059\u308b\u624b\u52a9\u3051\u3068\u306a\u308a\u307e\u3059\u3002\u73fe\u6642\u70b9\u3067\u306f\u3001LSS\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u8a00\u8a9e\u7642\u6cd5\u3084\u4f5c\u696d\u7642\u6cd5\u306a\u3069\u306e\u30b5\u30dd\u30fc\u30c8\u7642\u6cd5\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u306e\u9045\u308c\u3092\u8efd\u6e1b\u3057\u3001\u3088\u308a\u826f\u3044\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u4eca\u5f8c\u306e\u7814\u7a76\u3084\u81e8\u5e8a\u8a66\u9a13\u3092\u901a\u3058\u3066\u3001\u3053\u306e\u75be\u60a3\u306b\u5bfe\u3059\u308b\u7406\u89e3\u304c\u6df1\u307e\u308a\u3001\u3088\u308a\u52b9\u679c\u7684\u306a\u6cbb\u7642\u3084\u652f\u63f4\u304c\u63d0\u4f9b\u3055\u308c\u308b\u3053\u3068\u304c\u671f\u5f85\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\n    <a href=\"\/nipt\/22q11-2-deletion-syndrome-distal-d-e-f\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">22q11.2 \u6b20\u5931\u75c7\u5019\u7fa4 (LCR22 B\/C-D) <\/div>\n          <div class=\"blog-card-excerpt\">22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u767a\u9054\u9045\u5ef6\u3001\u514d\u75ab\u7570\u5e38\u3001\u5fc3\u81d3\u306e\u554f\u984c\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u65e9\u671f\u652f\u63f4\u3068\u9069\u5207\u306a\u533b\u7642\u306b\u3088\u308a\u751f\u6d3b\u306e\u8cea\u3092\u6539\u5584\u3067\u304d\u307e\u3059\u3002\r...<\/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_SLCO1B1%E3%80%80%E3%83%AD%E3%83%BC%E3%82%BF%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Rotor_Syndrome%EF%BC%89\"><\/span>[\uff12_SLCO1B1]\u3000\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\uff08Rotor Syndrome\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\/12p12.1-hgtIdeo_genome_31c539_2ee440-1024x20.png\" alt=\"12p12.1\" class=\"wp-image-92610\"\/><\/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\/SLCO1B1-hgtIdeo_genome_37cda9_2f54f0-1024x20.png\" alt=\"SLCO1B1 \" class=\"wp-image-92635\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u306f\u3001\u4f53\u5185\u3067\u30d3\u30ea\u30eb\u30d3\u30f3\u3092\u9069\u5207\u306b\u51e6\u7406\u3059\u308b\u4ed5\u7d44\u307f\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u308b\u3053\u3068\u3067\u3001\u8efd\u5ea6\u306e\u9ec4\u75b8\u3092\u5f15\u304d\u8d77\u3053\u3059\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001SLCO1B1\u907a\u4f1d\u5b50\u304a\u3088\u3073SLCO1B3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u751f\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306f\u300112\u756a\u67d3\u8272\u4f53\uff0812p12.1\uff09\u4e0a\u306b\u5b58\u5728\u3057\u3001\u305d\u308c\u305e\u308cOATP1B1\u304a\u3088\u3073OATP1B3\u3068\u3044\u3046\u8f38\u9001\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u51fa\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u8840\u6db2\u4e2d\u306e\u30d3\u30ea\u30eb\u30d3\u30f3\u3084\u4ed6\u306e\u6709\u6a5f\u5316\u5408\u7269\u3092\u809d\u81d3\u3078\u904b\u3076\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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=\"278\" height=\"205\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/AF-Q9Y6L6-F1.png\" alt=\"SLCO1B1    Solute carrier organic anion transporter family member 1B1\" class=\"wp-image-92641\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u901a\u5e38\u3001\u30d3\u30ea\u30eb\u30d3\u30f3\u306f\u8d64\u8840\u7403\u304c\u5206\u89e3\u3055\u308c\u308b\u969b\u306b\u751f\u3058\u308b\u9ec4\u8272\u3044\u8272\u7d20\u3067\u3001\u809d\u81d3\u3067\u51e6\u7406\u3055\u308c\u3001\u80c6\u6c41\u3068\u3057\u3066\u6392\u6cc4\u3055\u308c\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u3067\u306f\u3053\u308c\u3089\u306e\u8f38\u9001\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u6b20\u640d\u307e\u305f\u306f\u6a5f\u80fd\u4e0d\u5168\u3092\u8d77\u3053\u3059\u305f\u3081\u3001\u30d3\u30ea\u30eb\u30d3\u30f3\u304c\u8840\u6db2\u4e2d\u306b\u84c4\u7a4d\u3057\u3001\u9ad8\u30d3\u30ea\u30eb\u30d3\u30f3\u8840\u75c7\uff08\u8840\u6db2\u4e2d\u306e\u30d3\u30ea\u30eb\u30d3\u30f3\u6fc3\u5ea6\u306e\u4e0a\u6607\uff09\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u4e3b\u306a\u75c7\u72b6\u306f\u3001\u8efd\u5ea6\u3067\u9593\u6b20\u7684\u306b\u73fe\u308c\u308b\u9ec4\u75b8\u3067\u3059\u3002\u51fa\u751f\u76f4\u5f8c\u3084\u5e7c\u5c11\u671f\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u76ae\u819a\u3084\u773c\u7403\u306e\u767d\u76ee\u90e8\u5206\uff08\u7d50\u819c\uff09\u304c\u9ec4\u8272\u304f\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u809d\u6a5f\u80fd\u305d\u306e\u3082\u306e\u306f\u6b63\u5e38\u3067\u3001\u809d\u969c\u5bb3\u3084\u80c6\u6c41\u3046\u3063\u6ede\uff08\u80c6\u6c41\u306e\u6d41\u308c\u306e\u59a8\u3052\uff09\u306f\u898b\u3089\u308c\u307e\u305b\u3093\u3002\u985e\u4f3c\u306e\u75be\u60a3\u3067\u3042\u308b\u30c7\u30e5\u30d3\u30f3\u30fb\u30b8\u30e7\u30f3\u30bd\u30f3\u75c7\u5019\u7fa4\u3068\u306f\u7570\u306a\u308a\u3001\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u3067\u306f\u809d\u81d3\u306b\u9ed2\u8272\u306e\u8272\u7d20\u304c\u84c4\u7a4d\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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=\"419\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/5033106_s.jpg\" alt=\"\u9ec4\u8272\u3000\u3072\u3088\u3053\" class=\"wp-image-92645\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u306f\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u5909\u7570\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3050\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u907a\u4f1d\u5f62\u5f0f\uff09\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u307e\u308c\u306b\u3001SLCO1B1\u304a\u3088\u3073SLCO1B3\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u304c\u5927\u304d\u304f\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u975e\u5e38\u306b\u307e\u308c\u3067\u3042\u308a\u3001\u8840\u7e01\u95a2\u4fc2\u306e\u3042\u308b\u5bb6\u65cf\u5185\u3067\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u8a3a\u65ad\u3055\u308c\u305f\u5834\u5408\u306b\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u63a8\u5968\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u4e3b\u306b\u300c\u62b1\u5408\u578b\u9ad8\u30d3\u30ea\u30eb\u30d3\u30f3\u8840\u75c7\uff08\u809d\u81d3\u3067\u51e6\u7406\u3055\u308c\u305f\u30d3\u30ea\u30eb\u30d3\u30f3\u304c\u8840\u6db2\u4e2d\u306b\u5897\u52a0\u3059\u308b\u72b6\u614b\uff09\u300d\u304c\u5358\u72ec\u3067\u5b58\u5728\u3059\u308b\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u884c\u308f\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u80c6\u6c41\u306e\u6d41\u308c\u3092\u8a55\u4fa1\u3059\u308b\u300c\u80c6\u9053\u30b7\u30f3\u30c1\u30b0\u30e9\u30d5\u30a3\u30fc\u300d\u3068\u3044\u3046\u753b\u50cf\u691c\u67fb\u306b\u3088\u3063\u3066\u3001\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u306b\u7279\u6709\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u306e\u691c\u67fb\u304c\u5229\u7528\u3067\u304d\u306a\u3044\u5834\u5408\u3084\u30ea\u30b9\u30af\u3092\u4f34\u3046\u5834\u5408\u306b\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u306f\u5065\u5eb7\u306b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u75be\u60a3\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u7279\u5225\u306a\u6cbb\u7642\u306f\u5fc5\u8981\u3042\u308a\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u5f71\u97ff\u3092\u53d7\u3051\u308b\u8f38\u9001\u30bf\u30f3\u30d1\u30af\u8cea\uff08OATP1B1\u304a\u3088\u3073OATP1B3\uff09\u306f\u3001\u7279\u5b9a\u306e\u85ac\u5264\u3092\u809d\u81d3\u3078\u53d6\u308a\u8fbc\u3080\u5f79\u5272\u3092\u6301\u3064\u305f\u3081\u3001\u85ac\u306e\u4ee3\u8b1d\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u4e0b\u3052\u308b\u30b9\u30bf\u30c1\u30f3\u7cfb\u85ac\u5264\u3001\u6297\u304c\u3093\u5264\u306e\u30e1\u30c8\u30c8\u30ec\u30ad\u30b5\u30fc\u30c8\u3001\u9ad8\u8840\u5727\u6cbb\u7642\u85ac\u306e\u30d0\u30eb\u30b5\u30eb\u30bf\u30f3\u3084\u30a8\u30ca\u30e9\u30d7\u30ea\u30eb\u306a\u3069\u306f\u3001\u3053\u308c\u3089\u306e\u8f38\u9001\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4ecb\u3057\u3066\u809d\u81d3\u306b\u53d6\u308a\u8fbc\u307e\u308c\u307e\u3059\u3002\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306b\u304a\u3044\u3066\u3001\u3053\u308c\u3089\u306e\u85ac\u5264\u306b\u3088\u308b\u7279\u5225\u306a\u526f\u4f5c\u7528\u306f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u85ac\u306e\u52b9\u679c\u3084\u6bd2\u6027\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u670d\u7528\u6642\u306b\u306f\u614e\u91cd\u306a\u7ba1\u7406\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u306f\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u4e16\u754c\u7684\u306a\u6709\u75c5\u7387\u306f100\u4e07\u4eba\u306b1\u4eba\u4ee5\u4e0b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5065\u5eb7\u4e0a\u306e\u91cd\u5927\u306a\u554f\u984c\u3092\u5f15\u304d\u8d77\u3053\u3055\u306a\u3044\u305f\u3081\u3001\u8a3a\u65ad\u3055\u308c\u305a\u306b\u7d4c\u904e\u3059\u308b\u75c7\u4f8b\u3082\u5c11\u306a\u304f\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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\/24562854_s.jpg\" alt=\"\u3042\u307e\u308a\u98f2\u307e\u306a\u3044\u65b9\u304c\u3044\u3044\" class=\"wp-image-92649\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u3092\u4ed6\u306e\u30d3\u30ea\u30eb\u30d3\u30f3\u4ee3\u8b1d\u7570\u5e38\u3068\u533a\u5225\u3059\u308b\u3053\u3068\u306f\u91cd\u8981\u3067\u3059\u3002\u30c7\u30e5\u30d3\u30f3\u30fb\u30b8\u30e7\u30f3\u30bd\u30f3\u75c7\u5019\u7fa4\u3082\u540c\u69d8\u306b\u62b1\u5408\u578b\u9ad8\u30d3\u30ea\u30eb\u30d3\u30f3\u8840\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u826f\u6027\u306e\u75be\u60a3\u3067\u3059\u304c\u3001\u30d3\u30ea\u30eb\u30d3\u30f3\u306e\u80c6\u6c41\u3078\u306e\u5206\u6ccc\u304c\u59a8\u3052\u3089\u308c\u308b\u70b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u4e00\u65b9\u3001\u30ae\u30eb\u30d0\u30fc\u30c8\u75c7\u5019\u7fa4\u3084\u30af\u30ea\u30b0\u30e9\u30fc\u30fb\u30ca\u30b8\u30e3\u30fc\u30eb\u75c7\u5019\u7fa4\u306f\u30d3\u30ea\u30eb\u30d3\u30f3\u306e\u62b1\u5408\uff08\u809d\u81d3\u3067\u6c34\u306b\u6eb6\u3051\u3084\u3059\u3044\u5f62\u306b\u5909\u3048\u308b\u904e\u7a0b\uff09\u306b\u7570\u5e38\u304c\u3042\u308a\u3001\u975e\u62b1\u5408\u578b\u30d3\u30ea\u30eb\u30d3\u30f3\u306e\u4e0a\u6607\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u30ae\u30eb\u30d0\u30fc\u30c8\u75c7\u5019\u7fa4\u306f\u4e00\u822c\u7684\u3067\u5065\u5eb7\u3078\u306e\u5f71\u97ff\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u30af\u30ea\u30b0\u30e9\u30fc\u30fb\u30ca\u30b8\u30e3\u30fc\u30eb\u75c7\u5019\u7fa4I\u578b\u306f\u91cd\u7be4\u306a\u75be\u60a3\u3067\u3001\u9069\u5207\u306a\u6cbb\u7642\u3092\u884c\u308f\u306a\u3051\u308c\u3070\u751f\u547d\u306b\u95a2\u308f\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u306e\u5973\u6027\u304c\u598a\u5a20\u3057\u3066\u3082\u3001\u6bcd\u4f53\u3084\u80ce\u5150\u306b\u7279\u5225\u306a\u30ea\u30b9\u30af\u3092\u3082\u305f\u3089\u3059\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u9ad8\u30d3\u30ea\u30eb\u30d3\u30f3\u8840\u75c7\u304c\u3042\u308b\u305f\u3081\u3001\u598a\u5a20\u4e2d\u306b\u767a\u75c7\u3059\u308b\u809d\u75be\u60a3\uff08\u4f8b\u3048\u3070\u598a\u5a20\u6027\u809d\u5185\u80c6\u6c41\u3046\u3063\u6ede\u306a\u3069\uff09\u306e\u8a3a\u65ad\u304c\u96e3\u3057\u304f\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d3\u30ea\u30eb\u30d3\u30f3\u4ee3\u8b1d\u306e\u4ed5\u7d44\u307f\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u306f\u3001\u9ad8\u30d3\u30ea\u30eb\u30d3\u30f3\u8840\u75c7\u306b\u3088\u308b\u5f71\u97ff\u3092\u8003\u3048\u308b\u3046\u3048\u3067\u91cd\u8981\u3067\u3059\u3002\u30d3\u30ea\u30eb\u30d3\u30f3\u306f\u8d64\u8840\u7403\u306e\u5206\u89e3\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u526f\u7523\u7269\u3067\u3042\u308a\u3001\u9ad8\u6fc3\u5ea6\u306b\u306a\u308b\u3068\u6bd2\u6027\u3092\u6301\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u81ea\u4f53\u306f\u5065\u5eb7\u306b\u91cd\u5927\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u305b\u3093\u304c\u3001\u65b0\u751f\u5150\u306b\u304a\u3044\u3066\u975e\u62b1\u5408\u578b\u30d3\u30ea\u30eb\u30d3\u30f3\u304c\u904e\u5270\u306b\u84c4\u7a4d\u3059\u308b\u3068\u3001\u6838\u9ec4\u75b8\uff08\u30d3\u30ea\u30eb\u30d3\u30f3\u304c\u8133\u306b\u84c4\u7a4d\u3057\u3001\u795e\u7d4c\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u72b6\u614b\uff09\u3092\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u85ac\u5264\u306b\u3088\u308b\u30a2\u30eb\u30d6\u30df\u30f3\u304b\u3089\u306e\u30d3\u30ea\u30eb\u30d3\u30f3\u904a\u96e2\u3001\u8840\u6db2\u8133\u95a2\u9580\u306e\u900f\u904e\u6027\u306e\u5897\u52a0\u3001\u9577\u671f\u9593\u306e\u9ad8\u30d3\u30ea\u30eb\u30d3\u30f3\u8840\u75c7\u306a\u3069\u304c\u3001\u3053\u306e\u795e\u7d4c\u6bd2\u6027\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u65b0\u751f\u5150\u533b\u7642\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u8074\u899a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3084MRI\u691c\u67fb\u3092\u6d3b\u7528\u3057\u305f\u30d3\u30ea\u30eb\u30d3\u30f3\u306b\u3088\u308b\u8133\u969c\u5bb3\u306e\u65e9\u671f\u767a\u898b\u304c\u53ef\u80fd\u306b\u306a\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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\/31048631_s-1.jpg\" alt=\"\u3053\u3069\u3082\u306e\u8a3a\u65ad\" class=\"wp-image-88820\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u307e\u3068\u3081\u308b\u3068\u3001\u30ed\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u306f\u30d3\u30ea\u30eb\u30d3\u30f3\u8f38\u9001\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8efd\u5ea6\u306e\u9593\u6b20\u7684\u306a\u9ec4\u75b8\u3092\u5f15\u304d\u8d77\u3053\u3059\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u7279\u5225\u306a\u6cbb\u7642\u306f\u5fc5\u8981\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u7279\u5b9a\u306e\u85ac\u5264\u306e\u4ee3\u8b1d\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002\u307e\u305f\u3001\u4ed6\u306e\u30d3\u30ea\u30eb\u30d3\u30f3\u4ee3\u8b1d\u7570\u5e38\u3068\u306e\u9451\u5225\u8a3a\u65ad\u304c\u91cd\u8981\u3067\u3042\u308a\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u6709\u76ca\u3068\u306a\u308b\u5834\u5408\u3082\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<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_KCNJ8%E3%80%80%E3%82%AB%E3%83%B3%E3%83%88%E3%82%A5%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%83%96%E3%83%AB%E3%82%AC%E3%83%80%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Cantu_Syndrome_Brugada_Syndrome%EF%BC%89\"><\/span>[\uff13_KCNJ8]\u3000\u30ab\u30f3\u30c8\u30a5\u30fc\u75c7\u5019\u7fa4;\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\uff08Cant\u00fa Syndrome; Brugada Syndrome\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\/12p12.1-hgtIdeo_genome_31c539_2ee440-1024x20.png\" alt=\"12p12.1\" class=\"wp-image-92610\"\/><\/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\/KCNJ8-hgtIdeo_genome_3e4c8b_2fe530-1024x20.png\" alt=\"KCNJ8 \" class=\"wp-image-92652\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>KCNJ8\u907a\u4f1d\u5b50\u306f\u3001\u30d2\u30c8\u306e\u7b2c12\u67d3\u8272\u4f53\u77ed\u8155\uff0812p12.1\uff09\u306b\u4f4d\u7f6e\u3057\u3001ATP\u611f\u53d7\u6027\u5185\u5411\u304d\u6574\u6d41\u6027\u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb8\uff08ATP-sensitive inward rectifier potassium channel 8\uff09\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306f\u7d30\u80de\u306e\u96fb\u6c17\u7684\u306a\u6d3b\u52d5\u3092\u8abf\u6574\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3044\u3001\u7279\u306b\u5fc3\u81d3\u306b\u304a\u3044\u3066\u305d\u306e\u6a5f\u80fd\u304c\u91cd\u8981\u8996\u3055\u308c\u3066\u3044\u307e\u3059\u3002G\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u3088\u3063\u3066\u5236\u5fa1\u3055\u308c\u308b\u3053\u306e\u30c1\u30e3\u30cd\u30eb\u306f\u3001\u30ab\u30ea\u30a6\u30e0\u30a4\u30aa\u30f3\u3092\u7d30\u80de\u5185\u3078\u6d41\u5165\u3055\u305b\u308b\u6027\u8cea\u3092\u6301\u3061\u3001\u7d30\u80de\u5916\u306e\u30ab\u30ea\u30a6\u30e0\u6fc3\u5ea6\u306b\u3088\u3063\u3066\u6d3b\u6027\u304c\u5909\u5316\u3057\u307e\u3059\u3002\u6fc3\u5ea6\u304c\u9ad8\u304f\u306a\u308b\u3068\u3001\u30c1\u30e3\u30cd\u30eb\u306e\u6d3b\u6027\u5316\u304c\u3088\u308a\u6b63\u306e\u96fb\u4f4d\u3078\u30b7\u30d5\u30c8\u3059\u308b\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u30de\u30b0\u30cd\u30b7\u30a6\u30e0\u306b\u3088\u308b\u5916\u5411\u304d\u96fb\u6d41\u306e\u6291\u5236\u3084\u3001\u30d0\u30ea\u30a6\u30e0\u306b\u3088\u308b\u30c1\u30e3\u30cd\u30eb\u6d3b\u6027\u306e\u963b\u5bb3\u3068\u3044\u3063\u305f\u5f71\u97ff\u3082\u53d7\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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=\"311\" height=\"192\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/AF-Q15842-F1.png\" alt=\"KCNJ8     ATP-sensitive inward rectifier potassium channel 8\" class=\"wp-image-92657\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>KCNJ8\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\uff08Brugada Syndrome\uff09\u3084\u30ab\u30f3\u30c8\u30a5\u75c7\u5019\u7fa4\uff08Cant\u00fa Syndrome\uff09\u3068\u3044\u3063\u305f\u91cd\u7be4\u306a\u75be\u60a3\u3068\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u306f\u3001\u5fc3\u81d3\u3092\u542b\u3080\u4f53\u5185\u306e\u96fb\u6c17\u4fe1\u53f7\u306e\u4f1d\u9054\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u69d8\u3005\u306a\u75c7\u72b6\u3084\u5408\u4f75\u75c7\u3092\u4f34\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u306f\u3001\u5fc3\u81d3\u306e\u96fb\u6c17\u4fe1\u53f7\u306e\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u75be\u60a3\u3067\u3001\u5fc3\u96fb\u56f3\uff08ECG\uff09\u3067\u306fV1\u304b\u3089V3\u306e\u8a98\u5c0e\u306b\u7279\u5fb4\u7684\u306a\u7570\u5e38\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u81f4\u6b7b\u6027\u4e0d\u6574\u8108\u306e\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u3001\u7279\u306b\u7761\u7720\u4e2d\u306b\u7a81\u7136\u5fc3\u505c\u6b62\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u767a\u75c7\u306f\u4e3b\u306b\u6210\u4eba\u671f\u3067\u3059\u304c\u3001\u4e73\u5e7c\u5150\u3092\u542b\u3080\u3042\u3089\u3086\u308b\u5e74\u9f62\u3067\u75c7\u72b6\u304c\u73fe\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u6771\u5357\u30a2\u30b8\u30a2\u3067\u306f\u3001\u3053\u308c\u306b\u985e\u4f3c\u3057\u305f\u300c\u7761\u7720\u4e2d\u7a81\u7136\u6b7b\u75c7\u5019\u7fa4\uff08Sudden Unexpected Nocturnal Death Syndrome, SUNDS\uff09\u300d\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u3068\u591a\u304f\u306e\u7279\u5fb4\u3092\u5171\u6709\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\uff08autosomal dominant\uff09\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u60a3\u8005\u306e\u5b50\u3069\u3082\u306b\u306f50%\u306e\u78ba\u7387\u3067\u5909\u7570\u304c\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u767a\u75c7\u306e\u6709\u7121\u3084\u75c7\u72b6\u306e\u7a0b\u5ea6\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\uff08reduced penetrance\uff09\u300d\u3084\u300c\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\uff08variable expressivity\uff09\u300d\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u591a\u304f\u306e\u60a3\u8005\u306f\u89aa\u304b\u3089\u5909\u7570\u3092\u53d7\u3051\u7d99\u3044\u3067\u3044\u307e\u3059\u304c\u3001\u65b0\u305f\u306a\u7a81\u7136\u5909\u7570\uff08de novo mutation\uff09\u306f\u6bd4\u8f03\u7684\u307e\u308c\u3067\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u5bb6\u65cf\u5185\u306e\u30ea\u30b9\u30af\u3092\u7279\u5b9a\u3067\u304d\u3001\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3082\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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\/31715163_s.jpg\" alt=\"\u685c\" class=\"wp-image-92660\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u65e5\u672c\u306b\u304a\u3051\u308b\u75ab\u5b66\u8abf\u67fb\u306b\u3088\u308b\u3068\u3001\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u306e\u5fc3\u96fb\u56f3\u30d1\u30bf\u30fc\u30f3\u306e\u6709\u75c5\u7387\u306f\u5e74\u9f62\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u6210\u4eba\u3092\u5bfe\u8c61\u3068\u3057\u305f\u5927\u898f\u6a21\u7814\u7a76\u3067\u306f\u3001\u7d040.05%\u304b\u30890.6%\u306e\u4eba\u306b\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u3068\u4e00\u81f4\u3059\u308b\u5fc3\u96fb\u56f3\u7570\u5e38\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u3001\u5c0f\u5150\u306b\u304a\u3051\u308b\u6709\u75c5\u7387\u306f\u4f4e\u304f\u3001\u6210\u4eba\u671f\u4ee5\u964d\u306e\u767a\u75c7\u304c\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u306e\u6cbb\u7642\u3068\u3057\u3066\u6700\u3082\u52b9\u679c\u7684\u306a\u306e\u306f\u3001\u5931\u795e\u3084\u5fc3\u505c\u6b62\u3092\u7d4c\u9a13\u3057\u305f\u60a3\u8005\u306b\u5bfe\u3059\u308b\u690d\u8fbc\u307f\u578b\u9664\u7d30\u52d5\u5668\uff08ICD: Implantable Cardioverter Defibrillator\uff09\u306e\u88c5\u7740\u3067\u3059\u3002\u3053\u306e\u88c5\u7f6e\u306f\u3001\u81f4\u6b7b\u6027\u4e0d\u6574\u8108\u304c\u767a\u751f\u3057\u305f\u969b\u306b\u96fb\u6c17\u30b7\u30e7\u30c3\u30af\u3092\u4e0e\u3048\u3066\u6b63\u5e38\u306a\u5fc3\u62cd\u306b\u623b\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u983b\u7e41\u306b\u5371\u967a\u306a\u4e0d\u6574\u8108\u304c\u767a\u751f\u3059\u308b\u5834\u5408\u306b\u306f\u3001\u30a4\u30bd\u30d7\u30ed\u30c6\u30ec\u30ce\u30fc\u30eb\uff08isoproterenol\uff09\u3068\u3044\u3046\u85ac\u5264\u304c\u7dca\u6025\u51e6\u7f6e\u3068\u3057\u3066\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002\u4e0d\u6574\u8108\u3092\u8a98\u767a\u3059\u308b\u8981\u56e0\u3068\u3057\u3066\u3001\u767a\u71b1\u3001\u30b3\u30ab\u30a4\u30f3\u4f7f\u7528\u3001\u96fb\u89e3\u8cea\u7570\u5e38\u3001\u7279\u5b9a\u306e\u85ac\u5264\u306a\u3069\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u3092\u907f\u3051\u308b\u3053\u3068\u3082\u91cd\u8981\u3067\u3059\u3002\u7121\u75c7\u72b6\u306e\u60a3\u8005\u306b\u5bfe\u3059\u308b\u6cbb\u7642\u65b9\u91dd\u306f\u610f\u898b\u304c\u5206\u304b\u308c\u307e\u3059\u304c\u3001\u5bb6\u65cf\u6b74\u3084\u8ffd\u52a0\u306e\u30ea\u30b9\u30af\u56e0\u5b50\u3092\u8003\u616e\u3057\u3066ICD\u306e\u88c5\u7740\u3092\u52e7\u3081\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ab\u30f3\u30c8\u30a5\u75c7\u5019\u7fa4\u306f\u3001\u6975\u3081\u3066\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u591a\u6bdb\u75c7\uff08\u904e\u5270\u306a\u4f53\u6bdb\uff09\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u5fc3\u62e1\u5927\u3084\u9aa8\u683c\u7570\u5e38\u3092\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u5e83\u3044\u9f3b\u6881\u3001\u5927\u304d\u306a\u53e3\u3068\u539a\u3044\u5507\u3001\u5927\u820c\u75c7\uff08macroglossia\uff09\u306a\u3069\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u51fa\u751f\u6642\u306b\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u751f\u307e\u308c\u3064\u304d\u4f53\u6bdb\u304c\u6fc3\u304f\u3001\u5168\u8eab\u7684\u306b\u904e\u5270\u306a\u4f53\u6bdb\u304c\u8a8d\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u65b0\u751f\u5150\u671f\u306b\u306f\u901a\u5e38\u3088\u308a\u5927\u304d\u306a\u4f53\u683c\uff08\u5de8\u5150\u75c7: macrosomia\uff09\u3084\u6d6e\u816b\uff08\u3080\u304f\u307f\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u6539\u5584\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ab\u30f3\u30c8\u30a5\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u5fc3\u81d3\u306e\u7570\u5e38\u3082\u91cd\u8981\u306a\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u3002\u591a\u304f\u306e\u60a3\u8005\u3067\u306f\u5fc3\u62e1\u5927\u304c\u898b\u3089\u308c\u3001\u5fc3\u5ba4\u306e\u8cea\u91cf\u304c\u5897\u52a0\u3057\u307e\u3059\u304c\u3001\u5fc3\u7b4b\u58c1\u306e\u539a\u3055\u306b\u306f\u7570\u5e38\u304c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u5fc3\u6a5f\u80fd\u306f\u901a\u5e38\u6b63\u5e38\u3067\u3059\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u904b\u52d5\u8010\u6027\u306e\u4f4e\u4e0b\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA: Patent Ductus Arteriosus\uff09\u304c\u9ad8\u983b\u5ea6\u3067\u8a8d\u3081\u3089\u308c\u3001\u5916\u79d1\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u5fc3\u56a2\u6db2\u8caf\u7559\uff08pericardial effusion\uff09\u3001\u5927\u52d5\u8108\u306e\u62e1\u5f35\u3001\u8840\u7ba1\u306e\u86c7\u884c\uff08\u7279\u306b\u8133\u3084\u773c\u306e\u8840\u7ba1\uff09\u3068\u3044\u3063\u305f\u7570\u5e38\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u80ba\u9ad8\u8840\u5727\u75c7\u3092\u767a\u75c7\u3059\u308b\u60a3\u8005\u3082\u304a\u308a\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u6539\u5584\u3059\u308b\u5834\u5408\u304c\u3042\u308b\u4e00\u65b9\u3067\u3001\u91cd\u75c7\u5316\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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=\"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:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ab\u30f3\u30c8\u30a5\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306f\u3001\u4e3b\u306bKCNJ8\u307e\u305f\u306fABCC9\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u898b\u3089\u308c\u306a\u3044\u4f8b\u3082\u3042\u308a\u3001\u4ed6\u306e\u907a\u4f1d\u7684\u8981\u56e0\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u75c7\u72b6\u306b\u5fdc\u3058\u3066\u884c\u308f\u308c\u307e\u3059\u3002\u5fc3\u75be\u60a3\u306e\u7ba1\u7406\u304c\u7279\u306b\u91cd\u8981\u3067\u3042\u308a\u3001\u5fc3\u6a5f\u80fd\u3092\u76e3\u8996\u3059\u308b\u305f\u3081\u306e\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3084\u5fc3\u96fb\u56f3\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002PDA\u306b\u5bfe\u3057\u3066\u306f\u5916\u79d1\u7684\u9589\u9396\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u5fc3\u56a2\u6db2\u8caf\u7559\u304c\u9032\u884c\u3057\u305f\u5834\u5408\u306b\u306f\u6392\u6db2\u51e6\u7f6e\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u9aa8\u683c\u7570\u5e38\u306b\u5bfe\u3057\u3066\u306f\u88c5\u5177\u306e\u4f7f\u7528\u3084\u624b\u8853\u3001\u591a\u6bdb\u75c7\u306b\u5bfe\u3057\u3066\u306f\u5243\u6bdb\u3084\u30ec\u30fc\u30b6\u30fc\u6cbb\u7642\u306a\u3069\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u3001\u7406\u5b66\u7642\u6cd5\u3084\u8a00\u8a9e\u7642\u6cd5\u306b\u3088\u308b\u652f\u63f4\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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\/24562847_s.jpg\" alt=\"\u697d\u8b5c\u3000\u8272\" class=\"wp-image-91169\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u3068\u30ab\u30f3\u30c8\u30a5\u75c7\u5019\u7fa4\u306f\u3044\u305a\u308c\u3082J\u6ce2\u75c7\u5019\u7fa4\uff08J-wave syndrome\uff09\u3068\u95a2\u9023\u3057\u3066\u304a\u308a\u3001\u5fc3\u96fb\u56f3\u4e0a\u306b\u7279\u6709\u306e\u7570\u5e38\u6ce2\u5f62\u304c\u898b\u3089\u308c\u307e\u3059\u3002J\u6ce2\u75c7\u5019\u7fa4\u306f\u5fc3\u81d3\u306e\u518d\u5206\u6975\u7570\u5e38\u3092\u4f34\u3044\u3001\u81f4\u6b7b\u6027\u4e0d\u6574\u8108\u306e\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u75be\u60a3\u306b\u95a2\u3059\u308b\u907a\u4f1d\u7684\u7406\u89e3\u304c\u9032\u3080\u3053\u3068\u3067\u3001\u4eca\u5f8c\u3001\u3088\u308a\u6b63\u78ba\u306a\u8a3a\u65ad\u6cd5\u3084\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u73fe\u6642\u70b9\u3067\u306f\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u533b\u5b66\u7684\u7ba1\u7406\u304c\u6700\u5584\u306e\u5bfe\u7b56\u3068\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\n    <a href=\"\/nipt\/4q21_deletion_syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">4q21\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">4q21\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u67d3\u8272\u4f534\u756a\u9577\u8155\u306e\u4e00\u90e8\u6b20\u5931\u306b\u3088\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3001\u767a\u9054\u9045\u5ef6\u3084\u9854\u8c8c\u306e\u7279\u5fb4\u3001\u5185\u81d3\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u9069\u5207\u306a\u652f\u63f4\u3084\u533b\u7642\u7ba1\u7406\u304c...<\/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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%94_ABCC9%E3%80%80%E3%82%AB%E3%83%B3%E3%83%88%E3%82%A5%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%83%96%E3%83%AB%E3%82%AC%E3%83%80%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Cantu_Syndrome_Brugada_Syndrome%EF%BC%89\"><\/span>[\uff14_ABCC9]\u3000\u30ab\u30f3\u30c8\u30a5\u30fc\u75c7\u5019\u7fa4;\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\uff08Cant\u00fa Syndrome; Brugada Syndrome\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\/12p12.1-hgtIdeo_genome_31c539_2ee440-1024x20.png\" alt=\"12p12.1\" class=\"wp-image-92610\"\/><\/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\/ABCC9-hgtIdeo_genome_1f83d_3038d0-1024x20.png\" alt=\"ABCC9\" class=\"wp-image-92665\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ABCC9\u907a\u4f1d\u5b50\u306f\u3001\u30d2\u30c8\u306e12\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff0812p12.1\uff09\u306b\u4f4d\u7f6e\u3057\u3001ATP\u611f\u53d7\u6027\u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\uff08KATP\u30c1\u30e3\u30cd\u30eb\uff09\u306e\u69cb\u6210\u8981\u7d20\u3068\u306a\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u51fa\u3057\u307e\u3059\u3002\u3053\u306eKATP\u30c1\u30e3\u30cd\u30eb\u306f\u3001\u5fc3\u81d3\u3084\u5e73\u6ed1\u7b4b\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u3055\u307e\u3056\u307e\u306a\u7d44\u7e54\u306e\u96fb\u6c17\u7684\u306a\u6d3b\u52d5\u3092\u8abf\u7bc0\u3059\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001ABCC9\u907a\u4f1d\u5b50\u306fKCNJ11\u907a\u4f1d\u5b50\u3068\u5354\u529b\u3057\u3066KATP\u30c1\u30e3\u30cd\u30eb\u3092\u5f62\u6210\u3057\u307e\u3059\u3002KCNJ11\u304c\u30c1\u30e3\u30cd\u30eb\u306e\u901a\u8def\u90e8\u5206\u3092\u69cb\u6210\u3057\u3001ABCC9\u306f\u305d\u306e\u6d3b\u6027\u5316\u3084\u8abf\u7bc0\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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=\"296\" height=\"281\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/AF-O60706-F1.png\" alt=\"ABCC9   ATP-binding cassette sub-family C member 9\" class=\"wp-image-92674\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u307e\u305f\u3001ABCC9\u907a\u4f1d\u5b50\u306f\u5fc3\u81d3\u306e\u6a5f\u80fd\u306b\u95a2\u4e0e\u3059\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u500b\u4eba\u306e\u7761\u7720\u6642\u9593\u306e\u9055\u3044\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7814\u7a76\u306b\u3088\u308b\u3068\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u30a4\u30f3\u30c8\u30ed\u30f3\uff08\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u3089\u306a\u3044\u9818\u57df\uff09\u306b\u7279\u5b9a\u306e\u5909\u7570\u304c\u3042\u308b\u3068\u3001\u500b\u4eba\u9593\u306e\u7761\u7720\u6642\u9593\u306e\u5dee\u306e\u304a\u3088\u305d5%\u304c\u8aac\u660e\u3067\u304d\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7761\u7720\u6642\u9593\u306f\u907a\u4f1d\u7684\u8981\u56e0\u3068\u74b0\u5883\u8981\u56e0\u306e\u4e21\u65b9\u306e\u5f71\u97ff\u3092\u53d7\u3051\u307e\u3059\u304c\u3001\u5168\u4f53\u3068\u3057\u3066\u907a\u4f1d\u306e\u5f71\u97ff\u306f\u7d0440%\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001ABCC9\u3092\u542b\u3080\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u7761\u7720\u6642\u9593\u306e\u8abf\u7bc0\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>ABCC9\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3068\u3001\u3055\u307e\u3056\u307e\u306a\u75be\u60a3\u304c\u767a\u75c7\u3057\u3001\u305d\u308c\u305e\u308c\u7570\u306a\u308b\u81d3\u5668\u7cfb\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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\/23282803_s.jpg\" alt=\"\u6570\u3048\u305f\u3089\u5bdd\u308c\u308b\u304b\u306a\u3041\" class=\"wp-image-90873\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c71O\u578b\uff08CMD1O\uff09\u306f\u3001\u5fc3\u81d3\u306e\u5fc3\u5ba4\u304c\u62e1\u5f35\u3057\u3001\u53ce\u7e2e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\u3053\u3068\u3067\u3001\u3046\u3063\u8840\u6027\u5fc3\u4e0d\u5168\u3084\u4e0d\u6574\u8108\u3092\u5f15\u304d\u8d77\u3053\u3059\u75be\u60a3\u3067\u3059\u3002\u9032\u884c\u6027\u306e\u75c5\u614b\u3067\u3042\u308a\u3001\u5fc3\u6a5f\u80fd\u306e\u4f4e\u4e0b\u306b\u3088\u308a\u65e9\u671f\u6b7b\u4ea1\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5bb6\u65cf\u6027\u5fc3\u623f\u7d30\u52d512\u578b\uff08ATFB12\uff09\u306f\u3001\u4e0d\u6574\u8108\u306e\u4e2d\u3067\u3082\u6700\u3082\u4e00\u822c\u7684\u306a\u6301\u7d9a\u6027\u306e\u7570\u5e38\u306a\u5fc3\u62cd\u30ea\u30ba\u30e0\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u3067\u306f\u3001\u5fc3\u623f\u306e\u96fb\u6c17\u4fe1\u53f7\u304c\u4e71\u308c\u3001\u52b9\u679c\u7684\u306a\u53ce\u7e2e\u304c\u3067\u304d\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u3001\u5fc3\u5ba4\u3078\u306e\u8840\u6db2\u4f9b\u7d66\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u308a\u307e\u3059\u3002\u52d5\u60b8\u3084\u5931\u795e\uff08\u30b7\u30f3\u30b3\u30da\uff09\u306a\u3069\u306e\u75c7\u72b6\u304c\u898b\u3089\u308c\u3001\u8133\u6897\u585e\u3084\u5fc3\u4e0d\u5168\u306e\u30ea\u30b9\u30af\u3082\u9ad8\u307e\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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\/2025\/01\/932854_s.jpg\" alt=\"\u30ea\u30dc\u30f3\" class=\"wp-image-90521\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u591a\u6bdb\u6027\u9aa8\u8edf\u9aa8\u7570\u5f62\u6210\u75c7\uff08HTOCD\uff09\u306f\u3001\u5148\u5929\u7684\u306a\u591a\u6bdb\u75c7\uff08\u7570\u5e38\u306a\u4f53\u6bdb\u306e\u5897\u52a0\uff09\u3001\u65b0\u751f\u5150\u671f\u306e\u904e\u6210\u9577\uff08\u5de8\u4eba\u75c7\uff09\u3001\u7279\u5fb4\u7684\u306a\u9aa8\u306e\u7570\u5e38\u3001\u5fc3\u81d3\u306e\u80a5\u5927\uff08\u5fc3\u80a5\u5927\uff09\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u75be\u60a3\u3067\u3059\u3002\u5f71\u97ff\u3092\u53d7\u3051\u305f\u4eba\u3067\u306f\u3001\u984d\u307e\u3067\u4f38\u3073\u308b\u539a\u3044\u982d\u9aea\u3084\u5168\u8eab\u306e\u4f53\u6bdb\u306e\u5897\u52a0\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u9854\u306e\u7279\u5fb4\u3068\u3057\u3066\u5927\u304d\u306a\u982d\uff08\u5927\u982d\u75c7\uff09\u3001\u5e45\u5e83\u3044\u9f3b\u6881\u3001\u76ee\u982d\u306e\u3072\u3060\uff08\u5185\u773c\u89d2\u8d05\u76ae\uff09\u3001\u5927\u304d\u306a\u53e3\u3001\u539a\u3044\u5507\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f\u3001\u4e00\u90e8\u306e\u4ee3\u8b1d\u7570\u5e38\u75be\u60a3\u3068\u4f3c\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306b\u7f79\u60a3\u3057\u305f\u65b0\u751f\u5150\u306e\u7d04\u534a\u6570\u306f\u3001\u51fa\u751f\u6642\u306e\u4f53\u91cd\u304c\u5e73\u5747\u3088\u308a\u3082\u5927\u304d\u304f\u3001\u3080\u304f\u307f\uff08\u6d6e\u816b\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u76ae\u4e0b\u8102\u80aa\u304c\u5c11\u306a\u304f\u3001\u7b4b\u8089\u8cea\u306a\u4f53\u578b\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u9aa8\u683c\u306e\u7570\u5e38\u3068\u3057\u3066\u3001\u982d\u84cb\u9aa8\u306e\u80a5\u539a\u3001\u72ed\u3044\u80f8\u90ed\u3001\u5e45\u5e83\u3044\u808b\u9aa8\u3001\u6241\u5e73\u306a\u690e\u9aa8\u3001\u80a1\u95a2\u7bc0\u306e\u5909\u5f62\uff08\u5916\u53cd\u80a1\uff09\u3001\u9aa8\u5bc6\u5ea6\u306e\u4f4e\u4e0b\uff08\u9aa8\u6e1b\u5c11\u75c7\uff09\u3001\u9577\u9aa8\u306e\u7aef\uff08\u9aa8\u5e79\u7aef\uff09\u306e\u62e1\u5927\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u7d0480%\u306e\u75c7\u4f8b\u3067\u5fc3\u75be\u60a3\u304c\u8a8d\u3081\u3089\u308c\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09\u3001\u5fc3\u5ba4\u80a5\u5927\u3001\u80ba\u9ad8\u8840\u5727\u75c7\u3001\u5fc3\u56a2\u6db2\u8caf\u7559\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u304c\u898b\u3089\u308c\u308b\u305f\u3081\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308a\u3001\u8a00\u8a9e\u306e\u767a\u9054\u3082\u3084\u3084\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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\/2025\/01\/2654496_s.jpg\" alt=\"\u6c34\u5206\u88dc\u7d66\" class=\"wp-image-90349\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304a\u3088\u3073\u30df\u30aa\u30d1\u30c1\u30fc\u75c7\u5019\u7fa4\uff08IDMYS\uff09\u306f\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08\u4e21\u89aa\u304b\u3089\u5909\u7570\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3050\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u5f62\u5f0f\uff09\u3092\u3068\u308b\u75be\u60a3\u3067\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u75b2\u308c\u3084\u3059\u3055\u306a\u3069\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u591a\u304f\u306e\u60a3\u8005\u3067\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u898b\u3089\u308c\u3001\u8133\u306e\u767d\u8cea\u7570\u5e38\u304c\u753b\u50cf\u691c\u67fb\u3067\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u611f\u97f3\u6027\u96e3\u8074\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u9032\u884c\u6027\u306e\u5fc3\u75be\u60a3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>ABCC9\u907a\u4f1d\u5b50\u306f\u3001\u5fc3\u81d3\u3001\u7b4b\u8089\u3001\u795e\u7d4c\u7cfb\u3092\u542b\u3080\u8907\u6570\u306e\u81d3\u5668\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u3084\u30ab\u30f3\u30c8\u30a5\u30fc\u75c7\u5019\u7fa4\u306a\u3069\u306e\u75be\u60a3\u306e\u7279\u5fb4\u304c\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u75be\u60a3\u306e\u8a73\u7d30\u3084\u75c7\u72b6\u306e\u7ba1\u7406\u306b\u3064\u3044\u3066\u306f\u3001\u300c[\uff13_KCNJ8] \u30ab\u30f3\u30c8\u30a5\u30fc\u75c7\u5019\u7fa4\u30fb\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\uff08Cant\u00fa Syndrome; Brugada Syndrome\uff09\u300d\u306e\u9805\u76ee\u3092\u3054\u53c2\u7167\u304f\u3060\u3055\u3044\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%95_KRAS%E3%80%80%E3%83%8C%E3%83%BC%E3%83%8A%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Noonan_Syndrome%EF%BC%89\"><\/span>[\uff15_KRAS]\u3000\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\uff08Noonan Syndrome\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\/12p12.1-hgtIdeo_genome_31c539_2ee440-1024x20.png\" alt=\"12p12.1\" class=\"wp-image-92610\"\/><\/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\/KRAS-hgtIdeo_genome_4f60b_308be0-1024x20.png\" alt=\"KRAS \" class=\"wp-image-92680\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u306f\u3001\u4e3b\u306bKRAS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u306e\u5897\u6b96\u3084\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059KRas\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u50cd\u304d\u3092\u6301\u3061\u307e\u3059\u3002KRas\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u5206\u5b50\u30b9\u30a4\u30c3\u30c1\u3068\u3057\u3066\u6a5f\u80fd\u3057\u3001\u6d3b\u6027\u5316\u72b6\u614b\uff08GTP\u7d50\u5408\u72b6\u614b\uff09\u3068\u4e0d\u6d3b\u6027\u72b6\u614b\uff08GDP\u7d50\u5408\u72b6\u614b\uff09\u3092\u5207\u308a\u66ff\u3048\u308b\u3053\u3068\u3067\u3001\u7d30\u80de\u306e\u6b63\u5e38\u306a\u6a5f\u80fd\u3092\u7dad\u6301\u3057\u307e\u3059\u3002\u3053\u306e\u4ed5\u7d44\u307f\u306f\u3001\u30b0\u30a2\u30cb\u30f3\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u4ea4\u63db\u56e0\u5b50\uff08GEF\uff09\u3084GTPase\u6d3b\u6027\u5316\u30bf\u30f3\u30d1\u30af\u8cea\uff08GAP\uff09\u306b\u3088\u3063\u3066\u53b3\u5bc6\u306b\u5236\u5fa1\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u4e00\u90e8\u306e\u75be\u60a3\u3067\u306f\u3053\u306e\u5236\u5fa1\u304c\u3046\u307e\u304f\u50cd\u304b\u305a\u3001\u7570\u5e38\u306a\u7d30\u80de\u5897\u6b96\u3084\u767a\u9054\u306e\u9045\u308c\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u3084\u7279\u5b9a\u306e\u304c\u3093\u306f\u3001\u305d\u306e\u4ee3\u8868\u4f8b\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"186\" height=\"186\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/AF-P01116-F1.png\" alt=\"KRAS    GTPase KRas\" class=\"wp-image-92685\" style=\"width:292px;height:auto\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u306e\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u3001\u7279\u6709\u306e\u9854\u7acb\u3061\u3001\u4f4e\u8eab\u9577\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u767a\u9054\u306e\u9045\u308c\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u305d\u306e\u4ed6\u306e\u75c7\u72b6\u306b\u306f\u3001\u9996\u304c\u5e83\u304f\u898b\u3048\u308b\u7ffc\u72b6\u9838\u3001\u80f8\u90ed\u306e\u5909\u5f62\uff08\u9ce9\u80f8\u3084\u6f0f\u6597\u80f8\uff09\u3001\u7537\u6027\u306b\u304a\u3051\u308b\u505c\u7559\u7cbe\u5de3\u3001\u51fa\u8840\u3057\u3084\u3059\u3044\u4f53\u8cea\u3001\u30ea\u30f3\u30d1\u7cfb\u306e\u7570\u5e38\u3001\u5c0f\u5150\u9aa8\u9ac4\u5358\u7403\u6027\u767d\u8840\u75c5\uff08JMML\uff09\u306e\u767a\u75c7\u30ea\u30b9\u30af\u306e\u4e0a\u6607\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u51fa\u751f\u6642\u306e\u8eab\u9577\u306f\u901a\u5e38\u6b63\u5e38\u3067\u3059\u304c\u3001\u6210\u9577\u304c\u9045\u308c\u3001\u6700\u7d42\u7684\u306a\u6210\u4eba\u8eab\u9577\u306f\u4f4e\u3081\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306f50\u301c80%\u306e\u60a3\u8005\u306b\u898b\u3089\u308c\u3001\u6700\u3082\u4e00\u822c\u7684\u306a\u306e\u306f\u80ba\u52d5\u8108\u5f01\u72ed\u7a84\u75c7\u3067\u3059\u3002\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u306f20\u301c30%\u306e\u60a3\u8005\u3067\u767a\u75c7\u3057\u3001\u4e73\u5150\u671f\u307e\u305f\u306f\u5c0f\u5150\u671f\u306b\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u3001\u80ba\u52d5\u8108\u5206\u679d\u72ed\u7a84\u75c7\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u306e\u5fc3\u75be\u60a3\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5fc3\u96fb\u56f3\u7570\u5e38\u3082\u3088\u304f\u307f\u3089\u308c\u3001\u5fc3\u81d3\u306e\u69cb\u9020\u306b\u554f\u984c\u304c\u306a\u304f\u3066\u3082\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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\/1518375_s.jpg\" alt=\"\u5c0f\u5b66\u6821\" class=\"wp-image-92688\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u795e\u7d4c\u767a\u9054\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u4e00\u90e8\u306e\u4eba\u306f\u6b63\u5e38\u306a\u8a8d\u77e5\u6a5f\u80fd\u3092\u6301\u3061\u307e\u3059\u304c\u3001\u7d044\u5206\u306e1\u306e\u60a3\u8005\u306b\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3001\u8a00\u8a9e\u969c\u5bb3\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u3082\u3088\u304f\u307f\u3089\u308c\u3001\u7279\u306b\u8a00\u8a9e\u306e\u767a\u9054\u306e\u9045\u308c\u306f\u4e00\u822c\u7684\u3067\u3001\u8a00\u8a9e\u7642\u6cd5\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u6ce8\u610f\u529b\u306e\u554f\u984c\u3084\u591a\u52d5\u3001\u5b9f\u884c\u6a5f\u80fd\u306e\u8ab2\u984c\u304c\u591a\u304f\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306b\u95a2\u9023\u3059\u308b\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u611f\u60c5\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u304f\u3001\u4e0d\u5b89\u3084\u3046\u3064\u306e\u75c7\u72b6\u3092\u62b1\u3048\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u7570\u5e38\u306f\u7d0411%\u306e\u60a3\u8005\u306b\u307f\u3089\u308c\u3001\u8efd\u5ea6\u306e\u814e\u7570\u5e38\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3059\u3002\u7537\u6027\u3067\u306f\u3001\u505c\u7559\u7cbe\u5de3\u304c60\u301c80%\u306e\u983b\u5ea6\u3067\u767a\u751f\u3057\u3001\u751f\u6b96\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u7537\u5973\u3068\u3082\u306b\u4e00\u822c\u7684\u306b\u306f\u6b63\u5e38\u306a\u751f\u6b96\u80fd\u529b\u3092\u6301\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u306f\u3001\u5e74\u9f62\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u307e\u3059\u3002\u4e73\u5150\u671f\u306b\u306f\u5e83\u3044\u984d\u3001\u96e2\u308c\u305f\u76ee\u3001\u4f4e\u304f\u5f8c\u308d\u5411\u304d\u306b\u3064\u3044\u305f\u8033\u3001\u77ed\u3044\u9996\u3001\u3046\u306a\u3058\u306e\u4f59\u5206\u306a\u76ae\u819a\u304c\u7279\u5fb4\u3067\u3059\u3002\u601d\u6625\u671f\u306b\u306f\u3001\u5e83\u3044\u984d\u3068\u5c16\u3063\u305f\u984e\u304c\u76ee\u7acb\u3061\u3001\u9006\u4e09\u89d2\u5f62\u306e\u9854\u7acb\u3061\u306b\u306a\u308a\u307e\u3059\u3002\u6210\u4eba\u3067\u306f\u3001\u9f3b\u5507\u6e9d\u304c\u6df1\u304f\u306a\u308a\u3001\u76ae\u819a\u306e\u3057\u308f\u304c\u5897\u3048\u308b\u3053\u3068\u304c\u591a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u683c\u7570\u5e38\u3082\u591a\u304f\u3001\u810a\u67f1\u5074\u5f2f\u75c7\u3001\u690e\u9aa8\u306e\u7570\u5e38\u3001\u8098\u306e\u5916\u53cd\uff08\u8098\u5916\u53cd\uff09\u3001\u6307\u304c\u77ed\u3044\uff08\u77ed\u6307\u75c7\uff09\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b6f\u306e\u554f\u984c\u3068\u3057\u3066\u306f\u3001\u9ad8\u53e3\u84cb\u3084\u6b6f\u4e26\u3073\u306e\u4e71\u308c\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u9aa8\u5bc6\u5ea6\u304c\u4f4e\u304f\u3001\u9aa8\u6e1b\u5c11\u75c7\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u51fa\u8840\u3057\u3084\u3059\u3044\u50be\u5411\u3082\u3088\u304f\u5831\u544a\u3055\u308c\u3001\u8efd\u5ea6\u306e\u3042\u3056\u304c\u3067\u304d\u3084\u3059\u3044\u3082\u306e\u304b\u3089\u3001\u624b\u8853\u6642\u306e\u5927\u91cf\u51fa\u8840\u307e\u3067\u75c7\u72b6\u306e\u5e45\u306f\u5e83\u3044\u3067\u3059\u3002\u8840\u5c0f\u677f\u306e\u6a5f\u80fd\u969c\u5bb3\u3084\u51dd\u56fa\u56e0\u5b50\u306e\u6b20\u4e4f\u304c\u305d\u306e\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002\u30ea\u30f3\u30d1\u7cfb\u306e\u7570\u5e38\u3082\u3088\u304f\u307f\u3089\u308c\u3001\u5c40\u6240\u7684\u307e\u305f\u306f\u5168\u8eab\u7684\u306a\u30ea\u30f3\u30d1\u6d6e\u816b\u3001\u4e73\u3073\u80f8\u6c34\u3001\u8178\u30fb\u80ba\u30fb\u751f\u6b96\u5668\u3078\u306e\u30ea\u30f3\u30d1\u7ba1\u62e1\u5f35\u75c7\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u306e\u554f\u984c\u3068\u3057\u3066\u3001\u773c\u77bc\u4e0b\u5782\u3001\u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\u3001\u773c\u632f\u306a\u3069\u304c\u6700\u592795%\u306e\u60a3\u8005\u306b\u307f\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u7d0440%\u306e\u60a3\u8005\u304c\u611f\u97f3\u6027\u307e\u305f\u306f\u4f1d\u97f3\u6027\u96e3\u8074\u3092\u7d4c\u9a13\u3057\u3001\u53cd\u5fa9\u3059\u308b\u4e2d\u8033\u611f\u67d3\u304c\u305d\u306e\u8981\u56e0\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u76ae\u819a\u306e\u7279\u5fb4\u3068\u3057\u3066\u306f\u3001\u6bdb\u5b54\u6027\u89d2\u5316\u75c7\uff08\u6bdb\u7a74\u306e\u89d2\u5316\u7570\u5e38\uff09\u3001\u30ab\u30d5\u30a7\u30aa\u30ec\u6591\u3001\u9ed2\u8272\u6591\uff08\u30ec\u30f3\u30c8\u30ae\u30f3\uff09\u306a\u3069\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u76ae\u819a\u75c7\u72b6\u306f\u3001\u985e\u4f3c\u306e\u75c7\u5019\u7fa4\u3067\u3042\u308b\u5fc3\u9854\u76ae\u819a\u75c7\u5019\u7fa4\uff08CFC\u75c7\u5019\u7fa4\uff09\u3068\u5171\u901a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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=\"424\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/4148704_s.jpg\" alt=\"\u8d64\u3061\u3083\u3093\u306e\u767d\u7c89\" class=\"wp-image-90356\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u306e\u6709\u75c5\u7387\u306f1,000\u4eba\u306b1\u4eba\u304b\u30892,500\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8efd\u5ea6\u306e\u75c7\u4f8b\u306f\u8a3a\u65ad\u3055\u308c\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u3001\u5831\u544a\u3055\u308c\u308b\u983b\u5ea6\u306b\u3070\u3089\u3064\u304d\u304c\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u901a\u5e38\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u306b\u3088\u3063\u3066\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u304c\u3001\u4e00\u90e8\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002KRAS\u907a\u4f1d\u5b50\u306e\u307b\u304b\u3001PTPN11\u3001BRAF\u3001RAF1\u3001SOS1\u306a\u3069\u3001\u7d30\u80de\u306e\u6210\u9577\u3084\u5206\u5316\u3092\u8abf\u6574\u3059\u308bRas\/MAPK\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306b\u95a2\u4e0e\u3059\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u304c\u904e\u5270\u306b\u6d3b\u6027\u5316\u3057\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306f\u81e8\u5e8a\u7684\u306a\u7279\u5fb4\u3092\u57fa\u306b\u884c\u308f\u308c\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002\u6cbb\u7642\u306f\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306b\u5bfe\u3059\u308b\u5916\u79d1\u7684\u6cbb\u7642\u3001\u65e9\u671f\u306e\u767a\u9054\u652f\u63f4\u3001\u500b\u5225\u306e\u6559\u80b2\u30d7\u30e9\u30f3\u306e\u63d0\u4f9b\u306a\u3069\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u306f\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u306e\u7570\u5e38\u304c\u3042\u308b\u60a3\u8005\u306e\u8eab\u9577\u6539\u5584\u306b\u4f7f\u7528\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u5fc3\u8840\u7ba1\u306e\u5065\u5eb7\u3001\u6210\u9577\u3001\u795e\u7d4c\u767a\u9054\u3001\u51fa\u8840\u30ea\u30b9\u30af\u3092\u5b9a\u671f\u7684\u306b\u76e3\u8996\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002PTPN11\u307e\u305f\u306fKRAS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u306f\u3001JMML\u3084\u305d\u306e\u4ed6\u306e\u60aa\u6027\u816b\u760d\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" 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\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u3001\u60a3\u8005\u3084\u305d\u306e\u5bb6\u65cf\u306b\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u65e2\u77e5\u306e\u75c5\u7684\u5909\u7570\u3092\u6301\u3064\u5bb6\u65cf\u306f\u3001\u51fa\u751f\u524d\u307e\u305f\u306f\u7740\u5e8a\u524d\u907a\u4f1d\u8a3a\u65ad\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u304c\u3067\u304d\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\/NBK1124\/\">Roberts AE. Noonan Syndrome. 2001 Nov 15 [Updated 2022 Feb 17]. 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\/NBK1124\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.cell.2017.06.009\">Simanshu, D. K., Nissley, D. V., &amp; McCormick, F. (2017). RAS Proteins and Their Regulators in Human Disease. <em>Cell<\/em>, <em>170<\/em>(1), 17\u201333. https:\/\/doi.org\/10.1016\/j.cell.2017.06.009<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1124\/\">Roberts AE. Noonan Syndrome. 2001 Nov 15 [Updated 2022 Feb 17]. 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\/NBK1124\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK246980\/\">Grange DK, Nichols CG, Singh GK. Cant\u00fa Syndrome. 2014 Oct 2 [Updated 2020 Oct 1]. 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\/NBK246980\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1517\/\">Brugada R, Campuzano O, Sarquella-Brugada G, et al. Brugada Syndrome. 2005 Mar 31 [Updated 2022 Aug 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\/NBK1517\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.pediatrneurol.2003.09.011\">Shapiro, S. M. (2003). Bilirubin toxicity in the developing nervous system. <em>Pediatric Neurology<\/em>, <em>29<\/em>(5), 410\u2013421. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2003.09.011<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/sj.jp.7210634\">Hansen T. W. (2001). Bilirubin brain toxicity. <em>Journal of perinatology : official journal of the California Perinatal Association<\/em>, <em>21 Suppl 1<\/em>, S48\u2013S62. https:\/\/doi.org\/10.1038\/sj.jp.7210634<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK114805\/\">Jirsa M, Knisely AS, Schinkel A, et al. Rotor Syndrome. 2012 Dec 13 [Updated 2019 Jul 11]. 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\/NBK114805\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41436-019-0657-0\">Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P. R., Haseeb, A., McWalter, K., Ichikawa, S., Nava, C., Keren, B., Charles, P., Marey, I., Tabet, A. C., Levy, J., Perrin, L., Hartmann, A., Lesca, G., Schluth-Bolard, C., Monin, P., Dupuis-Girod, S., Guillen Sacoto, M. J., \u2026 Depienne, C. (2020). Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. <em>Genetics in medicine : official journal of the American College of Medical Genetics<\/em>, <em>22<\/em>(3), 524\u2013537. https:\/\/doi.org\/10.1038\/s41436-019-0657-0<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-024-03279-7\">Lian, R., Wu, G., Xu, F., Zhao, S., Li, M., Wang, H., Jia, T., &amp; Dong, Y. (2024). Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China. <em>Orphanet journal of rare diseases<\/em>, <em>19<\/em>(1), 281. https:\/\/doi.org\/10.1186\/s13023-024-03279-7<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/cge.14423\">Tenorio-Castano, J., G\u00f3mez, \u00c1. S., Coronado, M., Rodr\u00edguez-Mart\u00edn, P., Parra, A., Pascual, P., Cazalla, M., Gallego, N., Arias, P., Morales, A. V., Nevado, J., &amp; Lapunzina, P. (2023). Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency. <em>Clinical genetics<\/em>, <em>104<\/em>(6), 637\u2013647. https:\/\/doi.org\/10.1111\/cge.14423<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. 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