{"id":122472,"date":"2026-01-13T17:49:26","date_gmt":"2026-01-13T08:49:26","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122472"},"modified":"2026-03-27T14:22:39","modified_gmt":"2026-03-27T05:22:39","slug":"alagille-syndrome-type-2-notch2-mutation","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/","title":{"rendered":"Alagille Syndrome 2"},"content":{"rendered":"\n<p>\u5c0f\u5150\u671f\u306b\u304a\u3051\u308b\u6162\u6027\u80c6\u6c41\u9b31\u6ede\u306e\u4e3b\u8981\u306a\u539f\u56e0\u75be\u60a3\u306e\u4e00\u3064\u3067\u3042\u308b\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\uff08Alagille Syndrome: ALGS\uff09\u306f\u3001\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u767a\u751f\u7570\u5e38\u3092\u7279\u5fb4\u3068\u3059\u308b\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u305d\u306e\u591a\u304f\uff08\u7d0494%\u4ee5\u4e0a\uff09\u306f\u30ea\u30ac\u30f3\u30c9\u3092\u30b3\u30fc\u30c9\u3059\u308b<em>JAG1<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff081\u578b\uff09\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u304c\u3001\u6975\u3081\u3066\u7a00\u306a\u304c\u3089\u53d7\u5bb9\u4f53\u5074\u306e\u5909\u7570\u3067\u3042\u308b<strong>NOTCH2\u907a\u4f1d\u5b50<\/strong>\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u30b1\u30fc\u30b9\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u300c\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa42\u578b\uff08ALGS2\uff09\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>ALGS2\u306f\u3001Notch\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306e\u53d7\u5bb9\u4f53\u305d\u306e\u3082\u306e\u306e\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308a\u3001\u80c6\u7ba1\u306e\u767a\u751f\u3001\u5fc3\u81d3\u306e\u69cb\u7bc9\u3001\u9aa8\u683c\u5f62\u6210\u3001\u304a\u3088\u3073\u7279\u6709\u306e\u9854\u8c8c\u5f62\u6210\u306b\u652f\u969c\u3092\u304d\u305f\u3057\u307e\u3059\u3002\u672c\u7a3f\u3067\u306f\u3001ALGS2\u306e\u5206\u5b50\u751f\u7269\u5b66\u7684\u306a\u767a\u751f\u6a5f\u5e8f\u304b\u3089\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u30011\u578b\u3068\u306e\u8868\u73fe\u578b\u306e\u76f8\u9055\u3001\u305d\u3057\u3066\u6700\u65b0\u306e\u7ba1\u7406\u6226\u7565\u306b\u81f3\u308b\u307e\u3067\u3001\u5c02\u9580\u7684\u306a\u8996\u70b9\u304b\u3089\u6df1\u304f\u6398\u308a\u4e0b\u3052\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 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>Notch\u30b7\u30b0\u30ca\u30eb\u7d4c\u8def\u306b\u304a\u3051\u308bNOTCH2\u306e\u5f79\u5272<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/#%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%A8%E5%A4%89%E7%95%B0%E3%81%AE%E5%A4%9A%E6%A7%98%E6%80%A7\" >\u907a\u4f1d\u5f62\u5f0f\u3068\u5909\u7570\u306e\u591a\u69d8\u6027<\/a><\/li><\/ul><\/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\/alagille-syndrome-type-2-notch2-mutation\/#2_%E8%87%A8%E5%BA%8A%E7%97%87%E7%8A%B6%EF%BC%9A%E5%A4%9A%E7%B3%BB%E7%B5%B1%E3%81%AB%E5%8F%8A%E3%81%B6%E5%BD%A2%E6%88%90%E7%95%B0%E5%B8%B8%E3%81%AE%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0\" >2. \u81e8\u5e8a\u75c7\u72b6\uff1a\u591a\u7cfb\u7d71\u306b\u53ca\u3076\u5f62\u6210\u7570\u5e38\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/#%E2%91%A0_%E8%82%9D%E8%87%93%EF%BC%9A%E8%83%86%E6%B1%81%E9%AC%B1%E6%BB%9E%E3%81%A8%E8%83%86%E7%AE%A1%E6%B8%9B%E5%B0%91\" >\u2460 \u809d\u81d3\uff1a\u80c6\u6c41\u9b31\u6ede\u3068\u80c6\u7ba1\u6e1b\u5c11<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/#%E2%91%A1_%E5%BF%83%E8%A1%80%E7%AE%A1%E7%B3%BB%EF%BC%9A%E6%9C%AB%E6%A2%A2%E6%80%A7%E8%82%BA%E5%8B%95%E8%84%88%E7%8B%AD%E7%AA%84\" >\u2461 \u5fc3\u8840\u7ba1\u7cfb\uff1a\u672b\u68a2\u6027\u80ba\u52d5\u8108\u72ed\u7a84<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" 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\u773c\u7403\uff1a\u5f8c\u773c\u623f\u9685\u89d2\u7570\u5e38\uff08Posterior Embryotoxon\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/#3_ALGS1%EF%BC%88JAG1%E5%A4%89%E7%95%B0%EF%BC%89%E3%81%A8ALGS2%EF%BC%88NOTCH2%E5%A4%89%E7%95%B0%EF%BC%89%E3%81%AE%E6%AF%94%E8%BC%83\" >3. ALGS1\uff08JAG1\u5909\u7570\uff09\u3068ALGS2\uff08NOTCH2\u5909\u7570\uff09\u306e\u6bd4\u8f03<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/#%E9%A0%BB%E5%BA%A6%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%E3%81%AE%E5%B7%AE%E7%95%B0\" >\u983b\u5ea6\u3068\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u306e\u5dee\u7570<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/#%E8%85%8E%E6%A9%9F%E8%83%BD%E9%9A%9C%E5%AE%B3%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E9%A1%95%E8%91%97%E3%81%AA%E7%89%B9%E5%BE%B4\" >\u814e\u6a5f\u80fd\u969c\u5bb3\u306b\u304a\u3051\u308b\u9855\u8457\u306a\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" 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ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/#4_%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%E3%81%A8%E6%9C%80%E6%96%B0%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\" >4. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3068\u6700\u65b0\u306e\u907a\u4f1d\u5b50\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E8%A8%BA%E6%96%AD%E3%81%AE%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\" >\u907a\u4f1d\u5b50\u8a3a\u65ad\u306e\u30b9\u30c6\u30c3\u30d7<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/#5_%E6%B2%BB%E7%99%82%E7%AE%A1%E7%90%86%E3%81%A8%E4%BA%88%E5%BE%8C%EF%BC%9A%E5%A4%9A%E7%A7%91%E9%80%A3%E6%90%BA%E3%81%AE%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\" >5. \u6cbb\u7642\u7ba1\u7406\u3068\u4e88\u5f8c\uff1a\u591a\u79d1\u9023\u643a\u306e\u30a2\u30d7\u30ed\u30fc\u30c1<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/#%E8%82%9D%E4%B8%8D%E5%85%A8%E3%81%A8%E8%83%86%E6%B1%81%E9%AC%B1%E6%BB%9E%E3%81%AE%E7%AE%A1%E7%90%86\" >\u809d\u4e0d\u5168\u3068\u80c6\u6c41\u9b31\u6ede\u306e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/#%E6%A0%84%E9%A4%8A%E7%AE%A1%E7%90%86\" >\u6804\u990a\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/#%E4%BA%88%E5%BE%8C\" >\u4e88\u5f8c<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/#%E7%B5%90%E8%AB%96\" >\u7d50\u8ad6<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%88%86%E5%AD%90%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%EF%BC%9ANOTCH2%E5%A4%89%E7%95%B0%E3%81%A8%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E4%BC%9D%E9%81%94%E4%B8%8D%E5%85%A8\"><\/span><strong>1. \u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff1aNOTCH2\u5909\u7570\u3068\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u4e0d\u5168<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa42\u578b\u306e\u6838\u5fc3\u306f\u3001\u7b2c1\u67d3\u8272\u4f53\uff081p12\uff09\u306b\u4f4d\u7f6e\u3059\u308b<strong>NOTCH2\u907a\u4f1d\u5b50<\/strong>\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u5909\u7570\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Notch%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E7%B5%8C%E8%B7%AF%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8BNOTCH2%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>Notch\u30b7\u30b0\u30ca\u30eb\u7d4c\u8def\u306b\u304a\u3051\u308bNOTCH2\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Notch\u30b7\u30b0\u30ca\u30eb\u306f\u3001\u96a3\u63a5\u3059\u308b\u7d30\u80de\u9593\u306e\u76f8\u4e92\u4f5c\u7528\u3092\u901a\u3058\u3066\u7d30\u80de\u306e\u904b\u547d\u6c7a\u5b9a\uff08\u5206\u5316\u3001\u5897\u6b96\u3001\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff09\u3092\u5236\u5fa1\u3059\u308b\u6975\u3081\u3066\u91cd\u8981\u306a\u7d4c\u8def\u3067\u3059\u3002<\/p>\n\n\n\n<p>1\u578b\uff08ALGS1\uff09\u304c\u30ea\u30ac\u30f3\u30c9\u3067\u3042\u308bJagged-1\u306e\u6b20\u4e4f\u306b\u3088\u3063\u3066\u30b7\u30b0\u30ca\u30eb\u304c\u59cb\u52d5\u3057\u306a\u3044\u306e\u306b\u5bfe\u3057\u30012\u578b\uff08ALGS2\uff09\u306f\u53d7\u5bb9\u4f53\u3067\u3042\u308bNOTCH2\u305d\u306e\u3082\u306e\u304c\u6a5f\u80fd\u4e0d\u5168\u306b\u9665\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>NOTCH2\u306f\u3001\u7279\u306b\u809d\u81d3\u306b\u304a\u3051\u308b\u80c6\u7ba1\u7cfb\u306e\u4e09\u6b21\u5143\u7684\u306a\u69cb\u7bc9\uff08ductal plate remodeling\uff09\u306b\u304a\u3044\u3066\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u809d\u82bd\u7d30\u80de\u304c\u80c6\u7ba1\u7d30\u80de\u3078\u3068\u5206\u5316\u3057\u3001\u7ba1\u8154\u69cb\u9020\u3092\u5f62\u6210\u3059\u308b\u30d7\u30ed\u30bb\u30b9\u306b\u304a\u3044\u3066\u3001NOTCH2\u304b\u3089\u306e\u4fe1\u53f7\u304c\u6b20\u640d\u3059\u308b\u3068\u3001\u80c6\u7ba1\u306e\u6570\u304c\u8457\u3057\u304f\u6e1b\u5c11\u3059\u308b\u300c\u809d\u5185\u80c6\u7ba1\u6e1b\u5c11\u75c7\uff08Bile duct paucity\uff09\u300d\u3092\u62db\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%A8%E5%A4%89%E7%95%B0%E3%81%AE%E5%A4%9A%E6%A7%98%E6%80%A7\"><\/span><strong>\u907a\u4f1d\u5f62\u5f0f\u3068\u5909\u7570\u306e\u591a\u69d8\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ALGS2\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u3092\u793a\u3057\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u75c7\u4f8b\u306f\u5bb6\u7cfb\u5185\u306b\u767a\u75c7\u8005\u306e\u3044\u306a\u3044\u7a81\u7136\u5909\u7570\uff08de novo mutation\uff09\u3067\u3059\u3002\u5909\u7570\u306e\u7a2e\u985e\u306b\u306f\u3001\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3001\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u3001\u6b20\u5931\u306a\u3069\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u304c\u53d7\u5bb9\u4f53\u306e\u7d30\u80de\u5916\u30c9\u30e1\u30a4\u30f3\uff08\u30ea\u30ac\u30f3\u30c9\u7d50\u5408\u90e8\u4f4d\uff09\u3084\u7d30\u80de\u5185\u30c9\u30e1\u30a4\u30f3\uff08\u4fe1\u53f7\u4f1d\u9054\u90e8\u4f4d\uff09\u306e\u6a5f\u80fd\u3092\u640d\u306a\u308f\u305b\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%87%A8%E5%BA%8A%E7%97%87%E7%8A%B6%EF%BC%9A%E5%A4%9A%E7%B3%BB%E7%B5%B1%E3%81%AB%E5%8F%8A%E3%81%B6%E5%BD%A2%E6%88%90%E7%95%B0%E5%B8%B8%E3%81%AE%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0\"><\/span><strong>2. \u81e8\u5e8a\u75c7\u72b6\uff1a\u591a\u7cfb\u7d71\u306b\u53ca\u3076\u5f62\u6210\u7570\u5e38\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa42\u578b\u306e\u81e8\u5e8a\u8a3a\u65ad\u306f\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e5\u3064\u306e\u4e3b\u8981\u5fb4\u5019\u306b\u57fa\u3065\u3044\u3066\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E8%82%9D%E8%87%93%EF%BC%9A%E8%83%86%E6%B1%81%E9%AC%B1%E6%BB%9E%E3%81%A8%E8%83%86%E7%AE%A1%E6%B8%9B%E5%B0%91\"><\/span><strong>\u2460 \u809d\u81d3\uff1a\u80c6\u6c41\u9b31\u6ede\u3068\u80c6\u7ba1\u6e1b\u5c11<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u75c7\u72b6\u306f\u3001\u751f\u5f8c\u65e9\u671f\u304b\u3089\u73fe\u308c\u308b\u6162\u6027\u7684\u306a\u80c6\u6c41\u9b31\u6ede\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75c5\u7406\u5b66\u7684\u7279\u5fb4<\/strong>: \u809d\u751f\u691c\u306b\u304a\u3044\u3066\u3001\u9580\u8108\u57df\u306b\u5bfe\u3059\u308b\u5c0f\u8449\u9593\u80c6\u7ba1\u306e\u6bd4\u7387\u304c\u6e1b\u5c11\uff08\u901a\u5e380.4\u672a\u6e80\uff09\u3059\u308b\u300c\u80c6\u7ba1\u6e1b\u5c11\uff08Paucity of interlobular bile ducts\uff09\u300d\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u75c7\u72b6<\/strong>: \u5f37\u56fa\u306a\u7619\u75d2\u611f\uff08\u304b\u3086\u307f\uff09\u3001\u9ec4\u75b8\u3001\u9ad8\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7\u3001\u304a\u3088\u3073\u76ae\u819a\u306e\u9ec4\u8272\u816b\uff08\u30ad\u30b5\u30f3\u30c8\u30fc\u30de\uff09\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E5%BF%83%E8%A1%80%E7%AE%A1%E7%B3%BB%EF%BC%9A%E6%9C%AB%E6%A2%A2%E6%80%A7%E8%82%BA%E5%8B%95%E8%84%88%E7%8B%AD%E7%AA%84\"><\/span><strong>\u2461 \u5fc3\u8840\u7ba1\u7cfb\uff1a\u672b\u68a2\u6027\u80ba\u52d5\u8108\u72ed\u7a84<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Notch\u30b7\u30b0\u30ca\u30eb\u306f\u5fc3\u8840\u7ba1\u7cfb\u306e\u767a\u751f\u306b\u3082\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80ba\u52d5\u8108\u72ed\u7a84<\/strong>: \u6700\u3082\u4e00\u822c\u7684\u306a\u5408\u4f75\u75c7\u3067\u3042\u308a\u3001\u80ba\u52d5\u8108\u4e3b\u5e79\u90e8\u304b\u3089\u672b\u68a2\u679d\u306b\u304b\u3051\u3066\u72ed\u7a84\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7<\/strong>: 1\u578b\u3068\u6bd4\u8f03\u3059\u308b\u3068\u983b\u5ea6\u306f\u4f4e\u3044\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u91cd\u7be4\u306a\u5fc3\u5185\u5947\u5f62\u3092\u5408\u4f75\u3059\u308b\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E7%89%B9%E5%BE%B4%E7%9A%84%E9%A1%94%E8%B2%8C%EF%BC%88Facial_Features%EF%BC%89\"><\/span><strong>\u2462 \u7279\u5fb4\u7684\u9854\u8c8c\uff08Facial Features\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ALGS2\u60a3\u8005\u306b\u306f\u3001\u4e00\u76ee\u3067\u793a\u5506\u3055\u308c\u308b\u7279\u6709\u306e\u9854\u8c8c\uff08Dysmorphic facies\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u524d\u984d\u90e8\u306e\u7a81\u51fa\uff08\u5e83\u304f\u3066\u9ad8\u3044\u984d\uff09<\/li>\n\n\n\n<li>\u6df1\u304f\u9665\u51f9\u3057\u305f\u773c\u7aa9\uff08Deep-set eyes\uff09<\/li>\n\n\n\n<li>\u5c16\u3063\u305f\u984e\uff08Pointed chin\uff09<\/li>\n\n\n\n<li>\u7ffc\u72b6\u9f3b\uff08Bulbous tip of the nose\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E9%AA%A8%E6%A0%BC%E7%B3%BB%EF%BC%9A%E8%9D%B6%E5%BD%A2%E6%A4%8E%EF%BC%88Butterfly_Vertebrae%EF%BC%89\"><\/span><strong>\u2463 \u9aa8\u683c\u7cfb\uff1a\u8776\u5f62\u690e\uff08Butterfly Vertebrae\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u810a\u690e\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u64ae\u5f71\u306b\u304a\u3044\u3066\u3001\u690e\u4f53\u304c\u4e2d\u592e\u3067\u7652\u5408\u4e0d\u5168\u3092\u8d77\u3053\u3057\u3001\u8776\u306e\u7fbd\u306e\u3088\u3046\u306b\u898b\u3048\u308b\u300c\u8776\u5f62\u690e\u300d\u304c\u9ad8\u983b\u5ea6\u3067\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u901a\u5e38\u3001\u6a5f\u80fd\u7684\u306a\u969c\u5bb3\uff08\u75db\u307f\u3084\u795e\u7d4c\u75c7\u72b6\uff09\u3092\u4f34\u3044\u307e\u305b\u3093\u304c\u3001\u91cd\u8981\u306a\u8a3a\u65ad\u6307\u6a19\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A4_%E7%9C%BC%E7%90%83%EF%BC%9A%E5%BE%8C%E7%9C%BC%E6%88%BF%E9%9A%85%E8%A7%92%E7%95%B0%E5%B8%B8%EF%BC%88Posterior_Embryotoxon%EF%BC%89\"><\/span><strong>\u2464 \u773c\u7403\uff1a\u5f8c\u773c\u623f\u9685\u89d2\u7570\u5e38\uff08Posterior Embryotoxon\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u773c\u79d1\u7684\u691c\u67fb\u306b\u304a\u3044\u3066\u3001\u89d2\u819c\u5f8c\u9762\u306e\u5883\u754c\u7dda\uff08\u30b7\u30e5\u30ef\u30eb\u30d9\u7dda\uff09\u304c\u524d\u65b9\u306b\u504f\u4f4d\u30fb\u80a5\u539a\u3059\u308b\u300c\u5f8c\u773c\u623f\u9685\u89d2\u7570\u5e38\u300d\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3082\u8996\u529b\u3078\u306e\u76f4\u63a5\u7684\u306a\u5f71\u97ff\u306f\u5c11\u306a\u3044\u3082\u306e\u306e\u3001\u8a3a\u65ad\u306e\u88cf\u4ed8\u3051\u3068\u306a\u308b\u91cd\u8981\u306a\u8eab\u4f53\u6240\u898b\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_ALGS1%EF%BC%88JAG1%E5%A4%89%E7%95%B0%EF%BC%89%E3%81%A8ALGS2%EF%BC%88NOTCH2%E5%A4%89%E7%95%B0%EF%BC%89%E3%81%AE%E6%AF%94%E8%BC%83\"><\/span><strong>3. ALGS1\uff08JAG1\u5909\u7570\uff09\u3068ALGS2\uff08NOTCH2\u5909\u7570\uff09\u306e\u6bd4\u8f03<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\uff08ALGS\uff09\u306e\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3059\u75c7\u4f8b\u306e\u3046\u3061\u3001\u5727\u5012\u7684\u591a\u6570\u3092\u5360\u3081\u308b\u306e\u306f1\u578b\uff08JAG1\u5909\u7570\uff09\u3067\u3059\u304c\u3001\u8fd1\u5e74\u75c7\u4f8b\u5831\u544a\u304c\u84c4\u7a4d\u3055\u308c\u3066\u3044\u308b2\u578b\uff08NOTCH2\u5909\u7570\uff09\u306b\u306f\u3001\u5206\u5b50\u75c5\u614b\u306b\u8d77\u56e0\u3059\u308b\u72ec\u81ea\u306e\u81e8\u5e8a\u7684\u50be\u5411\u304c\u898b\u3066\u53d6\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A0%BB%E5%BA%A6%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%E3%81%AE%E5%B7%AE%E7%95%B0\"><\/span><strong>\u983b\u5ea6\u3068\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u306e\u5dee\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307e\u305a\u3001\u4e21\u8005\u306e\u906d\u9047\u983b\u5ea6\u306b\u306f\u5927\u304d\u306a\u958b\u304d\u304c\u3042\u308a\u307e\u3059\u3002\u5168\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u7d0494%\u4ee5\u4e0a\u304cJAG1\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff081\u578b\uff09\u3067\u3042\u308b\u306e\u306b\u5bfe\u3057\u3001NOTCH2\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff082\u578b\uff09\u304c\u78ba\u8a8d\u3055\u308c\u308b\u306e\u306f\u5168\u4f53\u306e1\u301c2%\u672a\u6e80\u306b\u904e\u304e\u307e\u305b\u3093\u3002\u3053\u306e\u7a00\u5c11\u6027\u304c\u30012\u578b\u306e\u72ec\u7acb\u3057\u305f\u81e8\u5e8a\u50cf\u306e\u628a\u63e1\u3092\u9577\u3089\u304f\u56f0\u96e3\u306b\u3057\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%85%8E%E6%A9%9F%E8%83%BD%E9%9A%9C%E5%AE%B3%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E9%A1%95%E8%91%97%E3%81%AA%E7%89%B9%E5%BE%B4\"><\/span><strong>\u814e\u6a5f\u80fd\u969c\u5bb3\u306b\u304a\u3051\u308b\u9855\u8457\u306a\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>2\u578b\u306b\u304a\u3044\u3066\u7279\u306b\u6ce8\u76ee\u3059\u3079\u304d\u306f\u3001<strong>\u814e\u81d3\u3078\u306e\u5f71\u97ff<\/strong>\u3067\u3059\u3002Notch\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7cfb\u306f\u3001\u80ce\u751f\u671f\u306e\u814e\u81d3\u306b\u304a\u3044\u3066\u30cd\u30d5\u30ed\u30f3\u306e\u5206\u5316\u3092\u8a98\u5c0e\u3059\u308b\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u30021\u578b\u3067\u3082\u814e\u5f62\u6210\u4e0d\u5168\u3084\u56a2\u80de\u814e\u306f\u898b\u3089\u308c\u307e\u3059\u304c\u30012\u578b\u3067\u306fNOTCH2\u53d7\u5bb9\u4f53\u305d\u306e\u3082\u306e\u306e\u4e0d\u5168\u306b\u3088\u308a\u3001\u814e\u5947\u5f62\u3084\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u3044\u3063\u305f\u814e\u6a5f\u80fd\u969c\u5bb3\u3092\u5408\u4f75\u3059\u308b\u983b\u5ea6\u304c\u3088\u308a\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u30012\u578b\u3068\u8a3a\u65ad\u3055\u308c\u305f\u5834\u5408\u306f\u30011\u578b\u4ee5\u4e0a\u306b\u53b3\u91cd\u306a\u814e\u6a5f\u80fd\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%82%9D%E7%97%87%E7%8A%B6%E3%81%AE%E9%87%8D%E7%97%87%E5%BA%A6%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0\"><\/span><strong>\u809d\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u30b9\u30da\u30af\u30c8\u30e9\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u809d\u81d3\u306b\u304a\u3051\u308b\u80c6\u6c41\u9b31\u6ede\u306e\u7a0b\u5ea6\u306b\u3082\u3001\u8208\u5473\u6df1\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u30021\u578b\u306f\u300c\u8efd\u5fae\u306a\u809d\u6a5f\u80fd\u7570\u5e38\u300d\u304b\u3089\u300c\u9032\u884c\u6027\u306e\u809d\u4e0d\u5168\u300d\u307e\u3067\u8868\u73fe\u578b\u306e\u5e45\uff08\u30d0\u30ea\u30a2\u30d3\u30ea\u30c6\u30a3\uff09\u304c\u975e\u5e38\u306b\u5e83\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u305f2\u578b\u306e\u75c7\u4f8b\u3067\u306f\u3001\u751f\u5f8c\u65e9\u671f\u304b\u3089\u5f37\u56fa\u306a\u9ec4\u75b8\u3084\u91cd\u7be4\u306a\u80c6\u6c41\u9b31\u6ede\u3092\u5448\u3059\u308b\u5272\u5408\u304c\u9ad8\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u80c6\u7ba1\u5f62\u6210\u306e\u6700\u7d42\u6bb5\u968e\u306b\u304a\u3044\u3066NOTCH2\u53d7\u5bb9\u4f53\u304c\u3088\u308a\u76f4\u63a5\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u53cd\u6620\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BF%83%E8%A1%80%E7%AE%A1%E7%B3%BB%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87%E3%83%91%E3%82%BF%E3%83%BC%E3%83%B3\"><\/span><strong>\u5fc3\u8840\u7ba1\u7cfb\u306e\u5408\u4f75\u75c7\u30d1\u30bf\u30fc\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5fc3\u8840\u7ba1\u5947\u5f62\u306b\u3064\u3044\u3066\u306f\u30011\u578b\u30682\u578b\u3067\u305d\u306e\u300c\u8907\u96d1\u6027\u300d\u306b\u5dee\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u30021\u578b\u3067\u306f\u80ba\u52d5\u8108\u72ed\u7a84\u306b\u52a0\u3048\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u306e\u8907\u96d1\u306a\u5fc3\u5185\u5947\u5f62\u3092\u9ad8\u983b\u5ea6\u306b\u4f34\u3044\u307e\u3059\u3002\u5bfe\u3057\u30662\u578b\u3067\u306f\u3001\u80ba\u52d5\u8108\u306e\u672b\u68a2\u679d\u72ed\u7a84\u304c\u4e3b\u4f53\u7684\u3067\u3042\u308a\u3001\u5fc3\u81d3\u5185\u90e8\u306e\u69cb\u9020\u7570\u5e38\u306f1\u578b\u3068\u6bd4\u8f03\u3059\u308b\u3068\u76f8\u5bfe\u7684\u306b\u5c11\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u8efd\u5ea6\u3067\u3042\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%B8%E3%81%AE%E7%A4%BA%E5%94%86\"><\/span><strong>\u8a3a\u65ad\u3078\u306e\u793a\u5506<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u30012\u578b\u306f\u300c\u9aa8\u683c\u3084\u9854\u8c8c\u3068\u3044\u3063\u305f\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u57fa\u672c\u9aa8\u683c\u300d\u3092\u7dad\u6301\u3057\u3064\u3064\u3082\u3001\u300c\u3088\u308a\u91cd\u7be4\u306a\u809d\u75c7\u72b6\u300d<strong>\u3068<\/strong>\u300c\u9ad8\u3044\u983b\u5ea6\u306e\u814e\u5408\u4f75\u75c7\u300d\u3092\u4f75\u305b\u6301\u3064\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3068\u3057\u3066\u7406\u89e3\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002\u907a\u4f1d\u5b50\u8a3a\u65ad\u306b\u3088\u3063\u3066\u5909\u7570\u304c<em>NOTCH2<\/em>\u3067\u3042\u308b\u3068\u5224\u660e\u3057\u305f\u969b\u306b\u306f\u3001\u3053\u308c\u3089\u306e\u81d3\u5668\u76f8\u95a2\u3092\u5ff5\u982d\u306b\u7f6e\u3044\u305f\u3001\u500b\u5225\u5316\u3055\u308c\u305f\u7ba1\u7406\u6226\u7565\u306e\u69cb\u7bc9\u304c\u4e0d\u53ef\u6b20\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/12\/4191115_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-120591\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%E3%81%A8%E6%9C%80%E6%96%B0%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\"><\/span><strong>4. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3068\u6700\u65b0\u306e\u907a\u4f1d\u5b50\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\uff08\u4e3b\u89815\u5fb4\u5019\u306e\u3046\u30613\u3064\u4ee5\u4e0a\uff09\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\u3059\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b50\u89e3\u6790\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E8%A8%BA%E6%96%AD%E3%81%AE%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\"><\/span><strong>\u907a\u4f1d\u5b50\u8a3a\u65ad\u306e\u30b9\u30c6\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09<\/strong>: \u6a19\u7684\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u306b\u3088\u308a\u3001<em>JAG1<\/em>\u304a\u3088\u3073<em>NOTCH2<\/em>\u306e\u5909\u7570\u3092\u540c\u6642\u306b\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MLPA\u6cd5<\/strong>: \u914d\u5217\u306e\u6b20\u5931\uff08\u30c7\u30ea\u30fc\u30c8\uff09\u3084\u91cd\u8907\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306b\u7528\u3044\u3089\u308c\u307e\u3059\u3002<em>NOTCH2<\/em>\u306e\u5168\u907a\u4f1d\u5b50\u6b20\u5931\u306f1\u578b\u306b\u6bd4\u3079\u3066\u7a00\u3067\u3059\u304c\u3001\u5fae\u7d30\u306a\u69cb\u9020\u7570\u5e38\u3092\u898b\u9003\u3055\u306a\u3044\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5909\u7570\u306e\u6a5f\u80fd\u8a55\u4fa1<\/strong>: \u65b0\u898f\u306e\u5909\u7570\u304c\u767a\u898b\u3055\u308c\u305f\u5834\u5408\u3001\u305d\u308c\u304c\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6a5f\u80fd\u3092\u640d\u306a\u3046\u300c\u75c5\u539f\u6027\u300d\u3092\u6301\u3064\u304b\u3069\u3046\u304b\u3092\u8a08\u7b97\u6a5f\u4e88\u6e2c\uff08in silico\uff09\u3084\u7d30\u80de\u5b9f\u9a13\u3067\u691c\u8a3c\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%B2%BB%E7%99%82%E7%AE%A1%E7%90%86%E3%81%A8%E4%BA%88%E5%BE%8C%EF%BC%9A%E5%A4%9A%E7%A7%91%E9%80%A3%E6%90%BA%E3%81%AE%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>5. \u6cbb\u7642\u7ba1\u7406\u3068\u4e88\u5f8c\uff1a\u591a\u79d1\u9023\u643a\u306e\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>ALGS2\u306f\u5168\u8eab\u6027\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u5c0f\u5150\u79d1\u3001\u809d\u81d3\u5c02\u9580\u533b\u3001\u5faa\u74b0\u5668\u79d1\u3001\u773c\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u308b\u30c1\u30fc\u30e0\u533b\u7642\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%82%9D%E4%B8%8D%E5%85%A8%E3%81%A8%E8%83%86%E6%B1%81%E9%AC%B1%E6%BB%9E%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>\u809d\u4e0d\u5168\u3068\u80c6\u6c41\u9b31\u6ede\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u85ac\u7269\u7642\u6cd5<\/strong>: \u80c6\u6c41\u9178\u306e\u6392\u6cc4\u3092\u4fc3\u3059\u30a6\u30eb\u30bd\u30c7\u30aa\u30ad\u30b7\u30b3\u30fc\u30eb\u9178\u3084\u3001\u96e3\u6cbb\u6027\u306e\u7619\u75d2\u611f\u306b\u5bfe\u3059\u308b\u30ea\u30d5\u30a1\u30f3\u30d4\u30b7\u30f3\u3001\u30b3\u30ec\u30b9\u30c1\u30e9\u30df\u30f3\u306a\u3069\u304c\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u56de\u8178\u80c6\u6c41\u9178\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\uff08IBAT\uff09\u963b\u5bb3\u85ac<\/strong>: \u8fd1\u5e74\u3001\u7619\u75d2\u611f\u306b\u5bfe\u3059\u308b\u9769\u65b0\u7684\u306a\u6cbb\u7642\u85ac\uff08\u30de\u30e9\u30ea\u30ad\u30b7\u30d0\u30c3\u30c8\u306a\u3069\uff09\u304c\u767b\u5834\u3057\u3001\u60a3\u8005\u306eQOL\u5287\u7684\u6539\u5584\u306b\u5bc4\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u809d\u79fb\u690d<\/strong>: \u9032\u884c\u6027\u306e\u809d\u4e0d\u5168\u3084\u3001\u8010\u3048\u96e3\u3044\u7619\u75d2\u611f\u3001\u91cd\u5ea6\u306e\u9ec4\u8272\u816b\u306b\u3088\u308b\u6a5f\u80fd\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306b\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A0%84%E9%A4%8A%E7%AE%A1%E7%90%86\"><\/span><strong>\u6804\u990a\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u80c6\u6c41\u9b31\u6ede\u306b\u3088\u308a\u8102\u6eb6\u6027\u30d3\u30bf\u30df\u30f3\uff08A, D, E, K\uff09\u306e\u5438\u53ce\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3059\u308b\u305f\u3081\u3001\u9ad8\u7528\u91cf\u306e\u30d3\u30bf\u30df\u30f3\u88dc\u5145\u3068\u3001\u4e2d\u9396\u8102\u80aa\u9178\uff08MCT\uff09\u3092\u4e3b\u4f53\u3068\u3057\u305f\u9ad8\u30ab\u30ed\u30ea\u30fc\u6804\u990a\u88dc\u7d66\u304c\u5fc5\u8981\u3067\u3059\u3002\u3053\u308c\u306f\u9aa8\u8edf\u5316\u75c7\u3084\u6210\u9577\u969c\u5bb3\u3092\u9632\u3050\u305f\u3081\u306b\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C\"><\/span><strong>\u4e88\u5f8c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ALGS2\u306e\u4e88\u5f8c\u306f\u3001\u4e3b\u306b<strong>\u5fc3\u8840\u7ba1\u7cfb\u306e\u91cd\u75c7\u5ea6<\/strong>\u3068<strong>\u809d\u4e0d\u5168\u306e\u9032\u884c\u5ea6<\/strong>\u306b\u5de6\u53f3\u3055\u308c\u307e\u3059\u3002\u65e9\u671f\u306b\u8a3a\u65ad\u3092\u53d7\u3051\u3001\u9069\u5207\u306a\u6804\u990a\u7ba1\u7406\u3068\u5408\u4f75\u75c7\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u884c\u308f\u308c\u308c\u3070\u3001\u591a\u304f\u306e\u60a3\u8005\u304c\u6210\u4eba\u671f\u306b\u9054\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u8840\u7ba1\u58c1\u306e\u8106\u5f31\u6027\u3092\u4f34\u3046\u5834\u5408\u304c\u3042\u308a\u3001\u8133\u8840\u7ba1\u969c\u5bb3\uff08\u30e2\u30e4\u30e2\u30e4\u75c5\u69d8\u5909\u5316\u3084\u52d5\u8108\u7624\uff09\u306e\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u306f\u9577\u671f\u7684\u306a\u8b66\u6212\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96\"><\/span><strong>\u7d50\u8ad6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa42\u578b\uff08ALGS2\uff09\u306f\u3001NOTCH2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u3082\u305f\u3089\u3059\u8907\u96d1\u304b\u3064\u5e0c\u5c11\u306a\u75c5\u614b\u3067\u3059\u30021\u578b\u3068\u306e\u5171\u901a\u70b9\u3092\u591a\u304f\u6301\u3061\u306a\u304c\u3089\u3082\u3001\u53d7\u5bb9\u4f53\u30ec\u30d9\u30eb\u306e\u7570\u5e38\u3068\u3044\u3046\u72ec\u81ea\u306e\u767a\u75c7\u6a5f\u5e8f\u3092\u6709\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5bc6\u306a\u907a\u4f1d\u5b50\u8a3a\u65ad\u306b\u3088\u3063\u3066\u300c2\u578b\u300d\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u306f\u3001\u5c06\u6765\u7684\u306a\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\u4e88\u6e2c\u3084\u3001\u6700\u9069\u306a\u7ba1\u7406\u8a08\u753b\u306e\u7b56\u5b9a\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002Notch\u30b7\u30b0\u30ca\u30eb\u306b\u95a2\u3059\u308b\u7814\u7a76\u306f\u65e5\u9032\u6708\u6b69\u3067\u3042\u308a\u3001\u5c06\u6765\u7684\u306b\u306f\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u3092\u76f4\u63a5\u7684\u306b\u4fee\u5fa9\u307e\u305f\u306f\u30d0\u30a4\u30d1\u30b9\u3059\u308b\u3088\u3046\u306a\u5206\u5b50\u6a19\u7684\u7642\u6cd5\u306e\u958b\u767a\u3082\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u304c\u3001\u3053\u306e\u5e0c\u5c11\u306a\u75be\u60a3\u306b\u7acb\u3061\u5411\u304b\u3046\u533b\u7642\u5f93\u4e8b\u8005\u3001\u305d\u3057\u3066\u60a3\u8005\u69d8\u30fb\u3054\u5bb6\u65cf\u306e\u6df1\u3044\u7406\u89e3\u306e\u4e00\u52a9\u3068\u306a\u308b\u3053\u3068\u3092\u9858\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"\u5c0f\u5150\u671f\u306b\u304a\u3051\u308b\u6162\u6027\u80c6\u6c41\u9b31\u6ede\u306e\u4e3b\u8981\u306a\u539f\u56e0\u75be&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-2-notch2-mutation\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":122284,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122472","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122472","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=122472"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122472\/revisions"}],"predecessor-version":[{"id":126186,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122472\/revisions\/126186"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/122284"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122472"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122472"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122472"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}