{"id":83500,"date":"2024-11-14T14:17:50","date_gmt":"2024-11-14T05:17:50","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83500"},"modified":"2026-03-04T14:06:52","modified_gmt":"2026-03-04T05:06:52","slug":"6q24-q25-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/6q24-q25-deletion-syndrome\/","title":{"rendered":"6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4(6q24-q25 Deletion Syndrome)"},"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>\u672c\u8a18\u4e8b\u3067\u306f\u30016q24q25\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3068\u305d\u306e\u7570\u5e38\u306b\u95a2\u9023\u3059\u308b\u7a00\u5c11\u75be\u60a3\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u7d39\u4ecb\u3057\u307e\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u907a\u4f1d\u5b50\u304c\u5f15\u304d\u8d77\u3053\u3059\u75c5\u614b\u3001\u81e8\u5e8a\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u305d\u3057\u3066\u6cbb\u7642\u306e\u73fe\u72b6\u3092\u5206\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3002\u5e0c\u5c11\u75be\u60a3\u306e\u7406\u89e3\u3092\u6df1\u3081\u3001\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u3068\u6cbb\u7642\u3078\u306e\u4e00\u6b69\u3092\u63d0\u4f9b\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\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/6q24-q25-deletion-syndrome\/#%EF%BC%91_PEX3%E3%80%80Zellweger%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0%E9%9A%9C%E5%AE%B3%EF%BC%88Zellweger_Spectrum_Disorder%EF%BC%89\" >[\uff11_PEX3]\u3000Zellweger\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08Zellweger Spectrum Disorder\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\/6q24-q25-deletion-syndrome\/#%EF%BC%92_PLAGL1%EF%BC%93_HYMAI%E3%80%80%E7%B3%96%E5%B0%BF%E7%97%85%E3%80%816q24%E9%96%A2%E9%80%A3%E4%B8%80%E9%81%8E%E6%80%A7%E6%96%B0%E7%94%9F%E5%85%90%EF%BC%886q24-Related_Transient_Neonatal_Diabetes_Mellitus%EF%BC%89\" >[\uff12_PLAGL1][\uff13_HYMAI]\u3000\u7cd6\u5c3f\u75c5\u30016q24\u95a2\u9023\u4e00\u904e\u6027\u65b0\u751f\u5150\uff086q24-Related Transient Neonatal Diabetes Mellitus\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\/6q24-q25-deletion-syndrome\/#%EF%BC%94_STX11%E3%80%80%E5%AE%B6%E6%97%8F%E6%80%A7%E8%A1%80%E7%90%83%E8%B2%AA%E9%A3%9F%E6%80%A7%E3%83%AA%E3%83%B3%E3%83%91%E7%B5%84%E7%B9%94%E7%90%83%E7%97%87%EF%BC%88Familial_Hemophagocytic_Lymphohistiocytosis%EF%BC%89\" >[\uff14_STX11]\u3000\u5bb6\u65cf\u6027\u8840\u7403\u8caa\u98df\u6027\u30ea\u30f3\u30d1\u7d44\u7e54\u7403\u75c7\uff08Familial Hemophagocytic Lymphohistiocytosis\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\/6q24-q25-deletion-syndrome\/#%EF%BC%95_EPM2A%E3%80%80%EF%BC%88Progressive_Myoclonus_Epilepsy_Lafora_Type%EF%BC%89\" >[\uff15_EPM2A]\u3000\uff08Progressive Myoclonus Epilepsy, Lafora Type\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\/6q24-q25-deletion-syndrome\/#%EF%BC%96_GRM1%E3%80%80%E8%87%AA%E5%BE%8B%E5%8A%A3%E6%80%A7%E5%B0%8F%E8%84%B3%E5%A4%B1%E8%AA%BF%E7%97%8713%E5%9E%8B%EF%BC%88Hereditary_Ataxia%EF%BC%88SCAR13%EF%BC%89%EF%BC%89\" >[\uff16_GRM1]\u3000\u81ea\u5f8b\u52a3\u6027\u5c0f\u8133\u5931\u8abf\u75c713\u578b\uff08Hereditary Ataxia\uff08SCAR13\uff09\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\/6q24-q25-deletion-syndrome\/#%EF%BC%97_SYNE1%E3%80%80SYNE1%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%88SYNE1_Deficiency%EF%BC%89\" >[\uff17_SYNE1]\u3000SYNE1\u6b20\u640d\u75c7\uff08SYNE1 Deficiency\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/6q24-q25-deletion-syndrome\/#%EF%BC%98_ARID1B%E3%80%80ARID1B%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3%EF%BC%9B%E5%85%88%E5%A4%A9%E6%80%A7%E6%A8%AA%E9%9A%94%E8%86%9C%E3%83%98%E3%83%AB%E3%83%8B%E3%82%A2%EF%BC%9A%E3%82%B3%E3%83%95%E3%82%A3%E3%83%B3%E3%83%BB%E3%82%B7%E3%83%AA%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88ARID1B-Related_Disorder_Congenital_Diaphragmatic_Hernia_Coffin-Siris_Syndrome%EF%BC%89\" >[\uff18_ARID1B]\u3000ARID1B\u95a2\u9023\u75be\u60a3\uff1b\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff1a\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\uff08ARID1B-Related Disorder; Congenital Diaphragmatic Hernia; Coffin-Siris Syndrome\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/6q24-q25-deletion-syndrome\/#%EF%BC%99_SERAC1%E3%80%80%E9%9B%A3%E8%81%B4%E3%80%81%E8%84%B3%E7%97%87%E3%80%81%E3%83%AA%E3%83%BC%E6%A7%98%E7%97%87%E5%80%99%E7%BE%A4%E3%82%92%E4%BC%B4%E3%81%86_3-%E3%83%A1%E3%83%81%E3%83%AB%E3%82%B0%E3%83%AB%E3%82%BF%E3%82%B3%E3%83%B3%E9%85%B8%E5%B0%BF%E7%97%87%EF%BC%883-methylglutaconic_aciduria_with_deafness_encephalopathy_and_Leigh-like_syndrome_MEGDEL%EF%BC%89\" >[\uff19_SERAC1]\u3000\u96e3\u8074\u3001\u8133\u75c7\u3001\u30ea\u30fc\u69d8\u75c7\u5019\u7fa4\u3092\u4f34\u3046 3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7\uff083-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)\uff09<\/a><\/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\/6q24-q25-deletion-syndrome\/#%EF%BC%91%EF%BC%90_RSPH3%E3%80%80%E5%8E%9F%E7%99%BA%E6%80%A7%E7%B9%8A%E6%AF%9B%E9%81%8B%E5%8B%95%E9%9A%9C%E5%AE%B3_32%EF%BC%88Primary_Ciliary_Dyskinesia_32_CILD32%EF%BC%89\" >[\uff11\uff10_RSPH3]\u3000\u539f\u767a\u6027\u7e4a\u6bdb\u904b\u52d5\u969c\u5bb3 32\uff08Primary Ciliary Dyskinesia 32 (CILD32)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/6q24-q25-deletion-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 is-resized\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/516949fe09f224b341f9559284a6a0b5-1024x20.png\" alt=\"6q246q25\u3000\" class=\"wp-image-91575\" style=\"width:1024px;height:auto\"\/><\/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\">PEX3<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3<\/td><td class=\"has-text-align-center\" data-align=\"center\">Zellweger Spectrum Disorder<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff12<\/td><td class=\"has-text-align-center\" data-align=\"center\">PLAGL1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u7cd6\u5c3f\u75c5\u30016q24\u95a2\u9023\u4e00\u904e\u6027\u65b0\u751f\u5150<\/td><td class=\"has-text-align-center\" data-align=\"center\">6q24-Related Transient Neonatal Diabetes Mellitus<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff13<\/td><td class=\"has-text-align-center\" data-align=\"center\">HYMAI<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u7cd6\u5c3f\u75c5\u30016q24\u95a2\u9023\u4e00\u904e\u6027\u65b0\u751f\u5150<\/td><td class=\"has-text-align-center\" data-align=\"center\">6q24-Related Transient Neonatal Diabetes Mellitus<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff14<\/td><td class=\"has-text-align-center\" data-align=\"center\">STX11<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5bb6\u65cf\u6027\u8840\u7403\u8caa\u98df\u6027\u30ea\u30f3\u30d1\u7d44\u7e54\u7403\u75c7<\/td><td class=\"has-text-align-center\" data-align=\"center\">Familial Hemophagocytic Lymphohistiocytosis<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff15<\/td><td class=\"has-text-align-center\" data-align=\"center\">EPM2A<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\u3066\u3093\u304b\u3093\u3001\u30e9\u30d5\u30a9\u30e9\u578b<\/td><td class=\"has-text-align-center\" data-align=\"center\">Progressive Myoclonus Epilepsy, Lafora Type<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff16<\/td><td class=\"has-text-align-center\" data-align=\"center\">GRM1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u907a\u4f1d\u6027\u904b\u52d5\u5931\u8abf\u75c7\uff08\u81ea\u5f8b\u52a3\u6027\u5c0f\u8133\u5931\u8abf\u75c713\u578b\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">Hereditary ataxia (SpinoCerebellar Ataxia, autosomal Recessive 13)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff17<\/td><td class=\"has-text-align-center\" data-align=\"center\">SYNE1<\/td><td class=\"has-text-align-center\" data-align=\"center\">SYNE1\u6b20\u640d\u75c7<\/td><td class=\"has-text-align-center\" data-align=\"center\">SYNE1 Deficiency<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff18<\/td><td class=\"has-text-align-center\" data-align=\"center\">ARID1B<\/td><td class=\"has-text-align-center\" data-align=\"center\">ARID1B\u95a2\u9023\u75be\u60a3\uff1b\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff1a\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4<\/td><td class=\"has-text-align-center\" data-align=\"center\">ARID1B-Related Disorder; Congenital Diaphragmatic Hernia; Coffin-Siris Syndrome<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff19<\/td><td class=\"has-text-align-center\" data-align=\"center\">SERAC1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u96e3\u8074\u3001\u8133\u75c7\u3001\u30ea\u30fc\u69d8\u75c7\u5019\u7fa4\u3092\u4f34\u3046 3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7<\/td><td class=\"has-text-align-center\" data-align=\"center\">3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11\uff10<\/td><td class=\"has-text-align-center\" data-align=\"center\">RSPH3<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u539f\u767a\u6027\u7e4a\u6bdb\u904b\u52d5\u969c\u5bb3 32<\/td><td class=\"has-text-align-center\" data-align=\"center\">Primary Ciliary Dyskinesia 32 (CILD32)<\/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=\"950\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/b727d8783df54a3afc39e886ac1a59bf.png\" alt=\"chromo6\" class=\"wp-image-90119\"\/><\/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_PEX3%E3%80%80Zellweger%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0%E9%9A%9C%E5%AE%B3%EF%BC%88Zellweger_Spectrum_Disorder%EF%BC%89\"><\/span>[\uff11_PEX3]\u3000Zellweger\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08Zellweger Spectrum Disorder\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/516949fe09f224b341f9559284a6a0b5-1024x20.png\" alt=\"6q246q25\u3000\" class=\"wp-image-91575\" style=\"width:1024px;height:auto\"\/><\/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\/b475590c58be8b1f098d5ef702f3dc00-1024x20.png\" alt=\"PEX\u3000\" class=\"wp-image-91578\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u56e0\u5b503\uff08Peroxisomal biogenesis factor 3\uff09\u3092\u30b3\u30fc\u30c9\u3059\u308bPEX3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001Zellweger\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08Zellweger Spectrum Disorder, ZSD\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u539f\u56e0\u306e\u4e00\u3064\u3068\u3057\u3066\u5e83\u304f\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u67d3\u8272\u4f53\u306e6q24-q25\u9818\u57df\u306b\u4f4d\u7f6e\u3057\u3066\u304a\u308a\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u3068\u3044\u3046\u7d30\u80de\u5185\u5c0f\u5668\u5b98\u306e\u5f62\u6210\u3084\u305d\u306e\u819c\u69cb\u9020\u306e\u7dad\u6301\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306f\u8102\u80aa\u9178\u306e\u5206\u89e3\u3084\u6709\u5bb3\u7269\u8cea\u306e\u89e3\u6bd2\u306b\u95a2\u4e0e\u3059\u308b\u305f\u3081\u3001\u7d30\u80de\u306e\u6b63\u5e38\u306a\u6a5f\u80fd\u306b\u6b20\u304b\u305b\u306a\u3044\u5b58\u5728\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"420\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24564060_s1.jpg\" alt=\"\u624b\u888b\u306a\u306e\u306b\u80f8\u3092\u3055\u308f\u308b\" class=\"wp-image-91736\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>PEX3\u907a\u4f1d\u5b50\u304c\u30b3\u30fc\u30c9\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u819c\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u8f38\u9001\u3059\u308b\u969b\u306b\u3001PEX19\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u300c\u30c9\u30c3\u30ad\u30f3\u30b0\u56e0\u5b50\u300d\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u5185\u90e8\uff08\u30de\u30c8\u30ea\u30c3\u30af\u30b9\uff09\u306b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u8f38\u9001\u3059\u308b\u524d\u6bb5\u968e\u3068\u3057\u3066\u3001\u819c\u5c0f\u80de\u3092\u7d44\u307f\u7acb\u3066\u308b\u5f79\u5272\u3082\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306b\u3001PEX3\u306f\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u5f62\u6210\u3068\u6a5f\u80fd\u3092\u652f\u3048\u308b\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3053\u3068\u3067\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u969c\u5bb3\u88dc\u5b8c\u7fa412\uff08Peroxisome biogenesis disorder complementation group 12, PBD-CG12\uff09\u306e\u75c5\u614b\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>PBD-CG12\u306f\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u819c\u3084\u5185\u90e8\uff08\u30de\u30c8\u30ea\u30c3\u30af\u30b9\uff09\u3078\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u8f38\u9001\u304c\u969c\u5bb3\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u6a5f\u80fd\u306b\u7570\u5e38\u3092\u304d\u305f\u3059\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u969c\u5bb3\uff08PBD\uff09\u3068\u3044\u3046\u907a\u4f1d\u7684\u306b\u591a\u69d8\u306a\u75be\u60a3\u30b0\u30eb\u30fc\u30d7\u306e\u4e00\u90e8\u306b\u5c5e\u3057\u3066\u3044\u307e\u3059\u3002PBD\u306f\u5c11\u306a\u304f\u3068\u308214\u306e\u7570\u306a\u308b\u907a\u4f1d\u30b0\u30eb\u30fc\u30d7\u306b\u5206\u985e\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u4ee3\u8868\u7684\u306a\u75be\u60a3\u306b\u306fZellweger\u75c7\u5019\u7fa4\uff08Zellweger syndrome, ZWS\uff09\u3001\u65b0\u751f\u5150\u578b\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08neonatal adrenoleukodystrophy, NALD\uff09\u3001\u4e73\u5150\u578bRefsum\u75c5\uff08infantile Refsum disease, IRD\uff09\u3001\u304a\u3088\u3073\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\uff08rhizomelic chondrodysplasia punctata, RCDP\uff09\u304c\u3042\u308a\u307e\u3059\u3002ZWS\u3001NALD\u3001IRD\u306e3\u3064\u306f\u4e92\u3044\u306b\u95a2\u9023\u6027\u304c\u3042\u308a\u3001Zellweger\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08PBD-ZSS\uff09\u3068\u547c\u3070\u308c\u308b\u9023\u7d9a\u3057\u305f\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u5f62\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u3001RCDP\u306f\u7570\u306a\u308b\u75be\u60a3\u7fa4\u306b\u5c5e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/30627636_s.jpg\" alt=\"\u30d1\u30fc\u30c4\" class=\"wp-image-90849\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>PEX3\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\u306f\u3001Zellweger\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u306e\u4e00\u7a2e\u3067\u3042\u308bPBD10A\uff08Peroxisome biogenesis disorder 10A\uff09\u3082\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u795e\u7d4c\u7cfb\u306e\u91cd\u5ea6\u306a\u6a5f\u80fd\u969c\u5bb3\uff08\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u65b0\u751f\u5150\u3051\u3044\u308c\u3093\uff09\u3001\u7279\u5fb4\u7684\u306a\u982d\u84cb\u9854\u9762\u7570\u5e38\u3001\u809d\u81d3\u6a5f\u80fd\u306e\u969c\u5bb3\u3001\u304a\u3088\u3073\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u6b20\u5982\u3092\u4f34\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u5fc3\u8840\u7ba1\u3084\u9aa8\u683c\u306e\u7570\u5e38\u3001\u814e\u56a2\u80de\u3001\u8996\u899a\u969c\u5bb3\u3084\u8074\u899a\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u91cd\u75c7\u578b\u3067\u3042\u308b\u53e4\u5178\u7684Zellweger\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306f\u3001\u751f\u5f8c1\u5e74\u4ee5\u5185\u306b\u6b7b\u4ea1\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u305d\u306e\u80cc\u666f\u306b\u306f\u91cd\u5ea6\u306e\u591a\u81d3\u5668\u6a5f\u80fd\u4e0d\u5168\u304c\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>ZSD\u306f\u91cd\u75c7\u578b\u304b\u3089\u8efd\u75c7\u578b\u307e\u3067\u5e45\u5e83\u3044\u81e8\u5e8a\u50cf\u3092\u6301\u3064\u75be\u60a3\u7fa4\u3067\u3042\u308a\u3001\u904e\u53bb\u306b\u500b\u5225\u306e\u75be\u60a3\u3068\u3057\u3066\u5b9a\u7fa9\u3055\u308c\u3066\u3044\u305fZWS\u3001NALD\u3001IRD\u306f\u3001\u73fe\u5728\u3067\u306fZSD\u3068\u3044\u3046\u5305\u62ec\u7684\u306a\u540d\u79f0\u306e\u4e0b\u3067\u7d71\u4e00\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u91cd\u75c7\u578b\u306e\u60a3\u8005\u306f\u51fa\u751f\u76f4\u5f8c\u306b\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u6388\u4e73\u56f0\u96e3\u3001\u8133\u306e\u767a\u9054\u7570\u5e38\u3001\u65b0\u751f\u5150\u3051\u3044\u308c\u3093\u3001\u814e\u56a2\u80de\u3001\u819d\u84cb\u9aa8\u3084\u9577\u9aa8\u306e\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u3001\u3055\u3089\u306b\u306f\u91cd\u5ea6\u306e\u809d\u81d3\u75c5\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002\u3053\u3046\u3057\u305f\u60a3\u8005\u306e\u591a\u304f\u306f\u767a\u9054\u306e\u9032\u5c55\u3092\u898b\u305b\u308b\u3053\u3068\u306a\u304f\u30011\u5e74\u4ee5\u5185\u306b\u6b7b\u4ea1\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"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:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u4e00\u65b9\u3001\u4e2d\u9593\u578b\u3084\u8efd\u75c7\u578b\u306e\u60a3\u8005\u3067\u306f\u3001\u75c7\u72b6\u306e\u9032\u884c\u304c\u7de9\u3084\u304b\u3067\u3042\u308a\u3001\u611f\u899a\u969c\u5bb3\uff08\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3084\u611f\u97f3\u6027\u96e3\u8074\uff09\u3001\u795e\u7d4c\u5b66\u7684\u7570\u5e38\uff08\u904b\u52d5\u5931\u8abf\u3001\u591a\u767a\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\u3001\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff09\u3001\u809d\u81d3\u75c5\u3001\u526f\u814e\u4e0d\u5168\u3001\u814e\u81d3\u7d50\u77f3\u306a\u3069\u304c\u5f90\u3005\u306b\u73fe\u308c\u307e\u3059\u3002\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u767a\u9054\u9045\u6ede\u306f\u4e00\u822c\u7684\u306a\u75c7\u72b6\u3067\u3059\u304c\u3001\u77e5\u7684\u767a\u9054\u304c\u6b63\u5e38\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u8efd\u75c7\u578b\u3067\u306f\u9aa8\u5bc6\u5ea6\u306e\u6e1b\u5c11\u3084\u6b6f\u306e\u30a8\u30ca\u30e1\u30eb\u5f62\u6210\u4e0d\u5168\uff08\u7279\u306b\u7b2c\u4e8c\u5927\u81fc\u6b6f\uff09\u304c\u3057\u3070\u3057\u3070\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>ZSD\u306e\u8a3a\u65ad\u306f\u3001\u3053\u308c\u3089\u306e\u81e8\u5e8a\u75c7\u72b6\u3084\u7279\u5fb4\u7684\u306a\u751f\u5316\u5b66\u7684\u7570\u5e38\u306e\u78ba\u8a8d\u306b\u52a0\u3048\u300113\u306eZSD-PEX\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u540c\u5b9a\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002\u6cbb\u7642\u306f\u4e3b\u306b\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3042\u308a\u3001\u60a3\u8005\u306e\u6804\u990a\u72b6\u614b\u3092\u6539\u5584\u3059\u308b\u305f\u3081\u306e\u80c3\u308d\u3046\u3084\u3001\u611f\u899a\u969c\u5bb3\u306b\u5bfe\u51e6\u3059\u308b\u305f\u3081\u306e\u88dc\u52a9\u5177\uff08\u8074\u899a\u88dc\u52a9\u5177\u3084\u8996\u899a\u88dc\u6b63\u5177\uff09\u3001\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u306e\u305f\u3081\u306e\u6297\u3051\u3044\u308c\u3093\u85ac\u3001\u8102\u6eb6\u6027\u30d3\u30bf\u30df\u30f3\u3084\u30b3\u30fc\u30eb\u9178\u306e\u88dc\u5145\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u767a\u9054\u652f\u63f4\u3001\u526f\u814e\u6a5f\u80fd\u4e0d\u5168\u306e\u6cbb\u7642\u3001\u3055\u3089\u306b\u306f\u9aa8\u5bc6\u5ea6\u4f4e\u4e0b\u3084\u6b6f\u79d1\u7684\u554f\u984c\u3078\u306e\u5bfe\u5fdc\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/23042065_s.jpg\" alt=\"\u98f2\u307f\u306a\u3041\" class=\"wp-image-91740\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ZSD\u306f\u4e3b\u306b\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u907a\u4f1d\u3057\u3001\u60a3\u8005\u306e\u5144\u5f1f\u59c9\u59b9\u306f25%\u306e\u78ba\u7387\u3067\u767a\u75c7\u300150%\u306e\u78ba\u7387\u3067\u4fdd\u56e0\u8005\u300125%\u306e\u78ba\u7387\u3067\u5065\u5eb7\u3067\u975e\u4fdd\u56e0\u8005\u3068\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u75c5\u7684\u5909\u7570\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u5bb6\u65cf\u5185\u3067\u306e\u4fdd\u56e0\u8005\u691c\u67fb\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5730\u57df\u306b\u3088\u308b\u767a\u75c7\u7387\u306e\u9055\u3044\u3082\u9855\u8457\u3067\u3001\u65e5\u672c\u3067\u306f\u51fa\u751f50\u4e07\u4ef6\u3042\u305f\u308a\u7d041\u4ef6\u306e\u983b\u5ea6\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u6b27\u5dde\u3067\u4e00\u822c\u7684\u306aPEX1\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306e\u5909\u7570\u304c\u65e5\u672c\u3067\u306f\u7a00\u3067\u3042\u308b\u3053\u3068\u304c\u4e00\u56e0\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u3046\u3057\u305f\u80cc\u666f\u304b\u3089\u3001ZSD\u3092\u3088\u308a\u6df1\u304f\u7406\u89e3\u3057\u3001\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u3092\u958b\u767a\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u3055\u3089\u306a\u308b\u7814\u7a76\u3068\u60a3\u8005\u30fb\u5bb6\u65cf\u3078\u306e\u5305\u62ec\u7684\u306a\u652f\u63f4\u304c\u6c42\u3081\u3089\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\/6p22_microdeletion_syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">6p22\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">6p22\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u30016\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u6b20\u5931\u304c\u539f\u56e0\u3067\u767a\u751f\u3059\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3084\u884c\u52d5\u554f\u984c\u3001\u5185\u81d3\u306e\u7570\u5e38\u304c\u7279\u5fb4\u3067\u3001\u65e9\u671f\u306e\u7642\u80b2\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<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_PLAGL1%EF%BC%93_HYMAI%E3%80%80%E7%B3%96%E5%B0%BF%E7%97%85%E3%80%816q24%E9%96%A2%E9%80%A3%E4%B8%80%E9%81%8E%E6%80%A7%E6%96%B0%E7%94%9F%E5%85%90%EF%BC%886q24-Related_Transient_Neonatal_Diabetes_Mellitus%EF%BC%89\"><\/span>[\uff12_PLAGL1][\uff13_HYMAI]\u3000\u7cd6\u5c3f\u75c5\u30016q24\u95a2\u9023\u4e00\u904e\u6027\u65b0\u751f\u5150\uff086q24-Related Transient Neonatal Diabetes Mellitus\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/516949fe09f224b341f9559284a6a0b5-1024x20.png\" alt=\"6q246q25\u3000\" class=\"wp-image-91575\" style=\"width:1024px;height:auto\"\/><\/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\/567bd8ae1cf5cf601d6a38292071c536-1024x20.png\" alt=\"PLAGL1\u3000\" class=\"wp-image-91584\"\/><\/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\/66662c421b90719f1e735561ae64f4a0-1024x20.png\" alt=\"HYMAI \u3000\" class=\"wp-image-91588\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>6q24\u95a2\u9023\u4e00\u904e\u6027\u65b0\u751f\u5150\u7cd6\u5c3f\u75c5\uff086q24-TNDM\uff09\u306f\u3001\u65b0\u751f\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u975e\u5e38\u306b\u7a00\u306a\u7cd6\u5c3f\u75c5\u3067\u3001\u4e3b\u306b6q24\u9818\u57df\u306b\u5b58\u5728\u3059\u308b\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u907a\u4f1d\u5b50\u3067\u3042\u308b\u300cPLAGL1\u300d\u3068\u300cHYMAI\u300d\u306e\u7570\u5e38\u304c\u539f\u56e0\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u907a\u4f1d\u5b50\u3068\u306f\u3001\u4e21\u89aa\u3069\u3061\u3089\u304b\u4e00\u65b9\u304b\u3089\u907a\u4f1d\u5b50\u304c\u53d7\u3051\u7d99\u304c\u308c\u3066\u3082\u3001\u7279\u5b9a\u306e\u89aa\u7531\u6765\u306e\u907a\u4f1d\u5b50\u3060\u3051\u304c\u6d3b\u6027\u5316\u3055\u308c\u3001\u3082\u3046\u4e00\u65b9\u306f\u4e0d\u6d3b\u6027\u5316\u3055\u308c\u308b\u3068\u3044\u3046\u7279\u6b8a\u306a\u5236\u5fa1\u3092\u53d7\u3051\u308b\u907a\u4f1d\u5b50\u3092\u6307\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u3067\u306f\u3001\u3053\u306e\u5236\u5fa1\u304c\u7570\u5e38\u3092\u304d\u305f\u3057\u3001\u7d50\u679c\u3068\u3057\u3066\u7cd6\u5c3f\u75c5\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>6q24-TNDM\u306f\u51fa\u751f\u76f4\u5f8c\u306b\u9ad8\u8840\u7cd6\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u65b0\u751f\u5150\u671f\u65e9\u671f\u3001\u3064\u307e\u308a\u751f\u5f8c1\u304b\u6708\u4ee5\u5185\u306b\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u3053\u306e\u7cd6\u5c3f\u75c5\u306f\u591a\u304f\u306e\u5834\u5408\u3001\u751f\u5f8c3\u304b\u6708\u3092\u76ee\u5b89\u306b\u81ea\u7136\u5bdb\u89e3\u3057\u307e\u3059\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u6c38\u7d9a\u7684\u306a\u7cd6\u5c3f\u75c5\u3078\u3068\u79fb\u884c\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u5bdb\u89e3\u3057\u305f\u5834\u5408\u3067\u3082\u601d\u6625\u671f\u3084\u6210\u4eba\u671f\u3001\u3055\u3089\u306b\u306f\u598a\u5a20\u4e2d\u306b\u7cd6\u5c3f\u75c5\u304c\u518d\u767a\u3059\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4ee5\u4e0b\u3067\u306f\u3001\u3053\u306e\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u7684\u8981\u56e0\u3084\u3001\u81e8\u5e8a\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u306e\u6d41\u308c\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/3861388_s.jpg\" alt=\"Latin word mellitus meaning honeyed or sweet\" class=\"wp-image-91743\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>PLAGL1\u907a\u4f1d\u5b50\u306f\u3001\u4e9c\u925b\u6307\u578b\u30bf\u30f3\u30d1\u30af\u8cea\uff08Zinc Finger Protein\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u7d30\u80de\u5185\u3067\u8ee2\u5199\u6d3b\u6027\u5316\u56e0\u5b50\u3068\u3057\u3066\u50cd\u304d\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u30db\u30eb\u30e2\u30f3\u8abf\u7bc0\u306b\u95a2\u308f\u308b\u4e0b\u5782\u4f53\u30a2\u30c7\u30cb\u30eb\u9178\u30b7\u30af\u30e9\u30fc\u30bc\u6d3b\u6027\u5316\u30dd\u30ea\u30da\u30d7\u30c1\u30c9\uff08PACAP\uff09\u306e\u53d7\u5bb9\u4f53\u306e\u8ee2\u5199\u3092\u5236\u5fa1\u3059\u308b\u306a\u3069\u3001\u767a\u751f\u3084\u4ee3\u8b1d\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3001\u7279\u306b\u30d7\u30ed\u30e2\u30fc\u30bf\u30fc\u9818\u57df\u306e\u4f4e\u30e1\u30c1\u30eb\u5316\uff08\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u6291\u5236\u304c\u7de9\u3080\u73fe\u8c61\uff09\u304c\u3001\u7236\u89aa\u7531\u6765\u306e\u30a2\u30ec\u30eb\u306e\u904e\u5270\u767a\u73fe\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u4e00\u904e\u6027\u65b0\u751f\u5150\u7cd6\u5c3f\u75c5\uff08TNDM\uff09\u306e\u4e3b\u306a\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001ZFP57\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3082\u3001\u3053\u306e\u4f4e\u30e1\u30c1\u30eb\u5316\u3092\u8a98\u767a\u3059\u308b\u8981\u56e0\u3068\u3057\u3066\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3001HYMAI\u907a\u4f1d\u5b50\u306f\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u306a\u3044RNA\uff08\u975e\u7ffb\u8a33RNA\uff09\u3092\u751f\u6210\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u3082\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u3055\u308c\u3066\u304a\u308a\u3001\u7236\u89aa\u7531\u6765\u306e\u30a2\u30ec\u30eb\u304b\u3089\u306e\u307f\u767a\u73fe\u3057\u307e\u3059\u3002HYMAI\u3068PLAGL1\u306f\u975e\u5e38\u306b\u8fd1\u3044\u4f4d\u7f6e\u95a2\u4fc2\u306b\u3042\u308a\u3001\u5171\u306b6q24\u9818\u57df\u306b\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u306e2\u3064\u306e\u907a\u4f1d\u5b50\u304c\u7570\u5e38\u306b\u767a\u73fe\u3059\u308b\u3053\u3068\u3067\u3001\u7cd6\u5c3f\u75c5\u767a\u75c7\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u304c\u5f62\u6210\u3055\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/3551522_s1.jpg\" alt=\"\u30d6\u30eb\u30d6\u30eb\u30ac\u30bf\u30ac\u30bf\" class=\"wp-image-90855\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>6q24-TNDM\u306f\u4ee5\u4e0b\u306e3\u3064\u306e\u4e3b\u306a\u907a\u4f1d\u7684\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\uff1a(1) \u7236\u89aa\u7531\u6765\u306e6\u756a\u67d3\u8272\u4f53\u304c2\u672c\u5b58\u5728\u3059\u308b\u7247\u89aa\u6027\u30c0\u30a4\u30bd\u30df\u30fc\uff08UPD6\uff09\u3001(2) \u7236\u89aa\u7531\u6765\u306e6q24\u9818\u57df\u306e\u91cd\u8907\u3001(3) \u6bcd\u89aa\u7531\u6765PLAGL1\u30d7\u30ed\u30e2\u30fc\u30bf\u30fc\u9818\u57df\u306e\u4f4e\u30e1\u30c1\u30eb\u5316\u3067\u3059\u3002\u3053\u308c\u3089\u306e\u7570\u5e38\u306f\u3001PLAGL1\u304a\u3088\u3073HYMAI\u306e\u901a\u5e38\u91cf\u3092\u8d85\u3048\u308b\u904e\u5270\u306a\u767a\u73fe\u3092\u3082\u305f\u3089\u3057\u307e\u3059\u3002\u7279\u306b\u3001\u4f4e\u30e1\u30c1\u30eb\u5316\u304c\u5e83\u7bc4\u56f2\u306b\u53ca\u3076\u591a\u9818\u57df\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u7570\u5e38\uff08MLID\uff09\u304c\u4f34\u3046\u5834\u5408\u3001\u7cd6\u5c3f\u75c5\u3060\u3051\u3067\u306a\u304f\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u5fc3\u75be\u60a3\u3001\u3066\u3093\u304b\u3093\u3001\u814e\u5947\u5f62\u306a\u3069\u306e\u591a\u5f69\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>6q24-TNDM\u306e\u81e8\u5e8a\u75c7\u72b6\u306b\u306f\u3001\u51fa\u751f\u6642\u306e\u8457\u3057\u3044\u80ce\u5185\u767a\u80b2\u9045\u5ef6\u3001\u8131\u6c34\u3001\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u3001\u305d\u3057\u3066\u65b0\u751f\u5150\u671f\u65e9\u671f\u306e\u9ad8\u8840\u7cd6\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u901a\u5e38\u3001\u30a4\u30f3\u30b9\u30ea\u30f3\u5206\u6ccc\u306e\u7570\u5e38\u304c\u539f\u56e0\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u9ad8\u8840\u7cd6\u304c\u7d9a\u304f\u3068\u3001\u4f53\u5185\u306e\u6c34\u5206\u304c\u5931\u308f\u308c\u8131\u6c34\u72b6\u614b\u306b\u9665\u308b\u305f\u3081\u3001\u8a3a\u65ad\u6642\u306b\u306f\u30a4\u30f3\u30b9\u30ea\u30f3\u6cbb\u7642\u3084\u88dc\u6db2\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002\u4e00\u904e\u6027\u306e\u5834\u5408\u3001\u591a\u304f\u306e\u60a3\u8005\u306f\u751f\u5f8c3\u304b\u6708\u4ee5\u5185\u306b\u5bdb\u89e3\u3057\u307e\u3059\u304c\u3001\u518d\u767a\u3059\u308b\u53ef\u80fd\u6027\u3092\u8003\u616e\u3057\u3001\u6ce8\u610f\u6df1\u3044\u7d4c\u904e\u89b3\u5bdf\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306b\u306f\u3001DNA\u30e1\u30c1\u30eb\u5316\u89e3\u6790\u304c\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u3053\u306e\u89e3\u6790\u306b\u3088\u308a\u30016q24\u9818\u57df\u306b\u304a\u3051\u308b\u4f4e\u30e1\u30c1\u30eb\u5316\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002\u8ffd\u52a0\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u907a\u4f1d\u7684\u7570\u5e38\u306e\u5177\u4f53\u7684\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u660e\u3089\u304b\u306b\u3057\u3001\u60a3\u8005\u304a\u3088\u3073\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u518d\u767a\u30ea\u30b9\u30af\u3084\u5bb6\u65cf\u5185\u907a\u4f1d\u306e\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u9069\u5207\u306a\u60c5\u5831\u63d0\u4f9b\u304c\u884c\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/23563729_s.jpg\" alt=\"\u62b1\u304d\u3057\u3081\u308b\" class=\"wp-image-91158\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u521d\u671f\u306b\u306f\u8131\u6c34\u3084\u9ad8\u8840\u7cd6\u306e\u7ba1\u7406\u304c\u6700\u512a\u5148\u3067\u3059\u3002\u6025\u6027\u671f\u306b\u306f\u88dc\u6db2\u3068\u30a4\u30f3\u30b9\u30ea\u30f3\u6cbb\u7642\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u75c7\u72b6\u3092\u6539\u5584\u3057\u3001\u305d\u306e\u5f8c\u3001\u8840\u7cd6\u5024\u306e\u5b89\u5b9a\u5316\u306b\u5fdc\u3058\u3066\u6cbb\u7642\u65b9\u91dd\u304c\u8abf\u6574\u3055\u308c\u307e\u3059\u3002\u4e00\u65e6\u5bdb\u89e3\u3057\u305f\u5f8c\u3082\u3001\u7279\u306b\u611f\u67d3\u75c7\u3084\u30b9\u30c8\u30ec\u30b9\u304c\u7cd6\u5c3f\u75c5\u518d\u767a\u306e\u5f15\u304d\u91d1\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u4fdd\u8b77\u8005\u3084\u533b\u7642\u8005\u306f\u518d\u767a\u306e\u5146\u5019\u306b\u6ce8\u610f\u3092\u6255\u3046\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u518d\u767a\u6642\u306e\u6cbb\u7642\u306b\u306f\u3001\u98df\u4e8b\u7642\u6cd5\u3084\u7d4c\u53e3\u85ac\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u30a4\u30f3\u30b9\u30ea\u30f3\u6ce8\u5c04\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u30016q24-TNDM\u306f\u907a\u4f1d\u7684\u80cc\u666f\u3068\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u7570\u5e38\u304c\u5bc6\u63a5\u306b\u95a2\u9023\u3059\u308b\u75be\u60a3\u3067\u3042\u308a\u3001\u305d\u306e\u7ba1\u7406\u306b\u306f\u6b63\u78ba\u306a\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u307e\u305f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3092\u901a\u3058\u3066\u3001\u60a3\u8005\u3084\u5bb6\u65cf\u306e\u8ca0\u62c5\u3092\u8efd\u6e1b\u3057\u3001\u9577\u671f\u7684\u306a\u5065\u5eb7\u3092\u7dad\u6301\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%94_STX11%E3%80%80%E5%AE%B6%E6%97%8F%E6%80%A7%E8%A1%80%E7%90%83%E8%B2%AA%E9%A3%9F%E6%80%A7%E3%83%AA%E3%83%B3%E3%83%91%E7%B5%84%E7%B9%94%E7%90%83%E7%97%87%EF%BC%88Familial_Hemophagocytic_Lymphohistiocytosis%EF%BC%89\"><\/span>[\uff14_STX11]\u3000\u5bb6\u65cf\u6027\u8840\u7403\u8caa\u98df\u6027\u30ea\u30f3\u30d1\u7d44\u7e54\u7403\u75c7\uff08Familial Hemophagocytic Lymphohistiocytosis\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/516949fe09f224b341f9559284a6a0b5-1024x20.png\" alt=\"6q246q25\u3000\" class=\"wp-image-91575\" style=\"width:1024px;height:auto\"\/><\/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\/f7f3d5b669df033ae84b701e24ffa2a4-1024x20.png\" alt=\"STX11\u3000\" class=\"wp-image-91607\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5bb6\u65cf\u6027\u8840\u7403\u8caa\u98df\u6027\u30ea\u30f3\u30d1\u7d44\u7e54\u7403\u75c74\u578b\uff08Familial Hemophagocytic Lymphohistiocytosis Type 4, FHL4\uff09\u306f\u3001\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001STX11\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u3067\u306f\u3001\u514d\u75ab\u7cfb\u306e\u5236\u5fa1\u6a5f\u80fd\u304c\u7570\u5e38\u3092\u304d\u305f\u3057\u3001\u4f53\u5185\u3067\u904e\u5270\u306a\u708e\u75c7\u53cd\u5fdc\u304c\u8d77\u3053\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u30b5\u30a4\u30c8\u30ab\u30a4\u30f3\u3068\u547c\u3070\u308c\u308b\u708e\u75c7\u6027\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u904e\u5270\u306b\u7523\u751f\u3055\u308c\u308b\u300c\u30cf\u30a4\u30d1\u30fc\u30b5\u30a4\u30c8\u30ab\u30a4\u30cd\u30df\u30a2\u300d\u304c\u767a\u751f\u3057\u3001\u3055\u3089\u306b\u81ea\u7136\u514d\u75ab\u3092\u62c5\u3046\u30ca\u30c1\u30e5\u30e9\u30eb\u30ad\u30e9\u30fc\u7d30\u80de\u306e\u6a5f\u80fd\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u6d3b\u6027\u5316\u3057\u305f\u30ea\u30f3\u30d1\u7403\u3084\u30de\u30af\u30ed\u30d5\u30a1\u30fc\u30b8\u304c\u9aa8\u9ac4\u3001\u809d\u81d3\u3001\u813e\u81d3\u3001\u3055\u3089\u306b\u306f\u4e2d\u67a2\u795e\u7d4c\u7cfb\u3092\u542b\u3080\u3055\u307e\u3056\u307e\u306a\u81d3\u5668\u306b\u6d78\u6f64\u3057\u3001\u6df1\u523b\u306a\u81d3\u5668\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/2962779_s.jpg\" alt=\"\u3066\u3066\u5fc3\u81d3\" class=\"wp-image-91746\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>STX11\u907a\u4f1d\u5b50\u306f\u3001\u30b7\u30f3\u30bf\u30ad\u30b7\u30f311\uff08Syntaxin-11\uff09\u3068\u547c\u3070\u308c\u308bSNARE\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u5f8c\u671f\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\u3068\u30c8\u30e9\u30f3\u30b9\u30b4\u30eb\u30b8\u7db2\uff08trans-Golgi network\uff09\u306e\u9593\u3067\u30bf\u30f3\u30d1\u30af\u8cea\u8f38\u9001\u3092\u8abf\u7bc0\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u6a5f\u80fd\u55aa\u5931\u3092\u5f15\u304d\u8d77\u3053\u3059\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u7d30\u80de\u5185\u306e\u7269\u8cea\u8f38\u9001\u304c\u6b63\u5e38\u306b\u884c\u308f\u308c\u306a\u304f\u306a\u308a\u3001FHL4\u306e\u75c5\u614b\u5f62\u6210\u306b\u7e4b\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>FHL4\u306e\u4e3b\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u3057\u3066\u306f\u3001\u6301\u7d9a\u7684\u3067\u9ad8\u3044\u767a\u71b1\u3001\u809d\u81d3\u3068\u813e\u81d3\u304c\u5927\u304d\u304f\u816b\u308c\u308b\u809d\u813e\u816b\uff08hepatosplenomegaly\uff09\u3001\u8840\u7403\u6e1b\u5c11\uff08cytopenia\uff09\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u795e\u7d4c\u7cfb\u306b\u3082\u5f71\u97ff\u304c\u53ca\u3076\u3053\u3068\u304c\u3042\u308a\u3001\u523a\u6fc0\u306b\u5bfe\u3059\u308b\u904e\u654f\u53cd\u5fdc\u3084\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\uff08hypotonia\uff09\u304b\u3089\u3001\u3051\u3044\u308c\u3093\u3001\u8133\u795e\u7d4c\u969c\u5bb3\u3001\u904b\u52d5\u5931\u8abf\uff08ataxia\uff09\u306a\u3069\u591a\u5c90\u306b\u308f\u305f\u308b\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u3001\u514d\u75ab\u7cfb\u304c\u7570\u5e38\u306b\u6d3b\u6027\u5316\u3057\u3001\u5168\u8eab\u306e\u81d3\u5668\u3092\u4fb5\u8972\u3059\u308b\u3053\u3068\u3067\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31141450_s.jpg\" alt=\"\u30de\u30b9\u30af\" class=\"wp-image-91749\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5bb6\u65cf\u6027\u8840\u7403\u8caa\u98df\u6027\u30ea\u30f3\u30d1\u7d44\u7e54\u7403\u75c7\uff08fHLH\uff09\u306f\u3001PRF1\u3001STX11\u3001STXBP2\u3001UNC13D\u3068\u3044\u3063\u305f\u907a\u4f1d\u5b50\u306b\u4e21\u30a2\u30ec\u30eb\u306e\u75c5\u539f\u6027\u5909\u7570\u304c\u5b58\u5728\u3059\u308b\u5834\u5408\u306b\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u4e00\u822c\u7684\u306b\u6025\u6027\u767a\u75c7\u3067\u3042\u308a\u3001\u6570\u9031\u9593\u4ee5\u4e0a\u7d9a\u304f\u9ad8\u71b1\u3001\u809d\u813e\u816b\u3001\u8840\u7403\u6e1b\u5c11\u3068\u3044\u3063\u305f\u7279\u5fb4\u3092\u6301\u3061\u307e\u3059\u3002\u767a\u75b9\u3084\u30ea\u30f3\u30d1\u7bc0\u816b\u8139\u306f\u307e\u308c\u3067\u3059\u304c\u3001\u809d\u6a5f\u80fd\u969c\u5bb3\u3084\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\u304c\u9032\u884c\u3059\u308b\u3068\u3001\u3055\u3089\u306b\u6df1\u523b\u306a\u81d3\u5668\u969c\u5bb3\u304c\u767a\u751f\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u767a\u75c7\u306f\u901a\u5e38\u3001\u751f\u5f8c\u6570\u30f6\u6708\u304b\u3089\u6570\u5e74\u4ee5\u5185\u306b\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u7a00\u306b\u6210\u4eba\u3067\u767a\u75c7\u3059\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u304c\u884c\u308f\u308c\u306a\u3044\u5834\u5408\u3001\u7279\u306b\u4e73\u5150\u3067\u306f\u767a\u75c7\u5f8c2\u30f6\u6708\u4ee5\u5185\u306b\u81f4\u547d\u7684\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u305d\u306e\u4e3b\u306a\u6b7b\u56e0\u3068\u3057\u3066\u306f\u3001\u75be\u60a3\u306e\u9032\u884c\u3001\u81d3\u5668\u4e0d\u5168\u3001\u4fb5\u8972\u6027\u611f\u67d3\u75c7\u3001\u51fa\u8840\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u5316\u5b66\u514d\u75ab\u7642\u6cd5\uff08HLH-94\u3084HLH-2004\u30d7\u30ed\u30c8\u30b3\u30eb\uff09\u3068\u305d\u306e\u5f8c\u306e\u540c\u7a2e\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09\u306e\u5c0e\u5165\u306b\u3088\u308a\u3001\u751f\u5b58\u7387\u306f\u5927\u5e45\u306b\u5411\u4e0a\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/23463911_s.jpg\" alt=\"\u63a1\u8840\u5b8c\u4e86\u7a81\u7136\u30c4\u30fc\u30b7\u30e7\" class=\"wp-image-91752\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>FHL4\u306e\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u89b3\u5bdf\u306b\u52a0\u3048\u3001STX11\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u305f\u3081\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306f\u3001\u7279\u306b\u4e2d\u6771\u5730\u57df\u306b\u591a\u304f\u898b\u3089\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u4ed6\u306e\u5730\u57df\u3084\u6c11\u65cf\u3067\u3082\u5831\u544a\u4f8b\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u4e3b\u8ef8\u3068\u306a\u308b\u306e\u306f\u3001\u30a8\u30c8\u30dd\u30b7\u30c9\uff08etoposide\uff09\u3092\u542b\u3080\u5316\u5b66\u514d\u75ab\u7642\u6cd5\u3068\u540c\u7a2e\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u3067\u3059\u3002\u307e\u305f\u3001\u8fd1\u5e74\u3067\u306f\u30a4\u30f3\u30bf\u30fc\u30d5\u30a7\u30ed\u30f3\u03b3\u6297\u4f53\uff08emapalumab\uff09\u3092\u7528\u3044\u305f\u65b0\u3057\u3044\u6cbb\u7642\u6cd5\u3082\u767b\u5834\u3057\u3066\u304a\u308a\u3001\u6cbb\u7642\u9078\u629e\u80a2\u304c\u62e1\u5927\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u6cbb\u7642\u306b\u52a0\u3048\u3001\u611f\u67d3\u75c7\u4e88\u9632\u3084\u5bfe\u75c7\u7642\u6cd5\u3068\u3057\u3066\u6297\u83cc\u85ac\u3084\u6297\u30a6\u30a4\u30eb\u30b9\u85ac\u3001\u89e3\u71b1\u5264\u3001\u8f38\u6db2\u3001\u8840\u6db2\u88fd\u5264\u306e\u6295\u4e0e\u306a\u3069\u306e\u652f\u6301\u7642\u6cd5\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e88\u5f8c\u7ba1\u7406\u3068\u3057\u3066\u306f\u3001\u6cbb\u7642\u4e2d\u304a\u3088\u3073\u6cbb\u7642\u5f8c\u306e\u5408\u4f75\u75c7\u30ea\u30b9\u30af\u3092\u6ce8\u610f\u6df1\u304f\u76e3\u8996\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u3001\u51fa\u8840\u3001\u547c\u5438\u969c\u5bb3\u3001\u795e\u7d4c\u5b66\u7684\u306a\u5408\u4f75\u75c7\u3001\u611f\u67d3\u75c7\u3001\u809d\u6a5f\u80fd\u969c\u5bb3\u306a\u3069\u3092\u65e9\u671f\u306b\u767a\u898b\u3057\u3001\u9069\u5207\u306a\u5bfe\u5fdc\u3092\u884c\u3046\u3053\u3068\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u514d\u75ab\u6291\u5236\u4e2d\u306e\u60a3\u8005\u306b\u306f\u3001\u751f\u30ef\u30af\u30c1\u30f3\u306e\u63a5\u7a2e\u3084\u611f\u67d3\u75c7\u3078\u306e\u66dd\u9732\u3092\u907f\u3051\u308b\u3053\u3068\u304c\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/4301674_s.jpg\" alt=\"\u30ef\u30af\u30c1\u30f3\" class=\"wp-image-91755\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>FHL4\u306e\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3042\u308a\u3001\u4e21\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u751f\u307e\u308c\u3066\u304f\u308b\u5b50\u3069\u3082\u304c\u75c5\u539f\u6027\u5909\u7570\u3092\u4e21\u65b9\u53d7\u3051\u7d99\u3050\u78ba\u7387\u306f25%\u3067\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u901a\u3058\u3066\u4fdd\u56e0\u8005\u3092\u65e9\u671f\u306b\u7279\u5b9a\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066HSCT\u3092\u8a08\u753b\u3059\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u3092\u672a\u7136\u306b\u9632\u3050\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>FHL4\u306f\u8907\u96d1\u3067\u6df1\u523b\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u304c\u60a3\u8005\u306e\u4e88\u5f8c\u3092\u5927\u304d\u304f\u6539\u5584\u3059\u308b\u9375\u3068\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306b\u95a2\u3059\u308b\u7814\u7a76\u3084\u6cbb\u7642\u6cd5\u306e\u9032\u5c55\u306b\u3088\u308a\u3001\u60a3\u8005\u306e\u751f\u5b58\u7387\u3068\u751f\u6d3b\u306e\u8cea\u306f\u4eca\u5f8c\u3055\u3089\u306b\u5411\u4e0a\u3059\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=\"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_EPM2A%E3%80%80%EF%BC%88Progressive_Myoclonus_Epilepsy_Lafora_Type%EF%BC%89\"><\/span>[\uff15_EPM2A]\u3000\uff08Progressive Myoclonus Epilepsy, Lafora Type\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/516949fe09f224b341f9559284a6a0b5-1024x20.png\" alt=\"6q246q25\u3000\" class=\"wp-image-91575\" style=\"width:1024px;height:auto\"\/><\/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\/e341bd7c28fcf5942bcd1ff7911bdc8f-1024x20.png\" alt=\"EPM2A\u3000\" class=\"wp-image-91620\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30e9\u30d5\u30a9\u30e9\u578b\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\u3066\u3093\u304b\u3093\uff08MELF1\uff09\u306f\u3001\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\u3066\u3093\u304b\u3093\u306e\u4e00\u7a2e\u3067\u3001\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001EPM2A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u767a\u75c7\u3057\u307e\u3059\u3002EPM2A\u907a\u4f1d\u5b50\u306f6q24.3\u3068\u3044\u3046\u30b2\u30ce\u30e0\u9818\u57df\u306b\u4f4d\u7f6e\u3057\u3001\u30e9\u30d5\u30a9\u30ea\u30f3\u3068\u3044\u3046\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30e9\u30d5\u30a9\u30ea\u30f3\u306f\u3001\u4f53\u5185\u3067\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u306e\u6b63\u5e38\u306a\u4ee3\u8b1d\u3092\u7dad\u6301\u3059\u308b\u305f\u3081\u306b\u6b20\u304b\u305b\u306a\u3044\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u304c\u904e\u5270\u306b\u30ea\u30f3\u9178\u5316\u3055\u308c\u308b\u3053\u3068\u3092\u9632\u304e\u3001\u4e0d\u6eb6\u6027\u306e\u51dd\u96c6\u4f53\u304c\u5f62\u6210\u3055\u308c\u308b\u306e\u3092\u6291\u5236\u3057\u307e\u3059\u3002\u3053\u306e\u6a5f\u80fd\u3092\u6301\u3064\u30e9\u30d5\u30a9\u30ea\u30f3\u306f\u3001\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u3068\u3057\u3066\u50cd\u304f\u307b\u304b\u3001\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u4ee3\u8b1d\u306b\u95a2\u4e0e\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u5206\u89e3\u3059\u308b\u305f\u3081\u306e\u4ed5\u7d44\u307f\u3067\u3042\u308b\u30e6\u30d3\u30ad\u30c1\u30f3\u5316\u3092\u4fc3\u9032\u3057\u307e\u3059\u3002\u7279\u306b\u3001E3\u30e6\u30d3\u30ad\u30c1\u30f3\u30ea\u30ac\u30fc\u30bc\u3067\u3042\u308bNHLRC1\uff08\u5225\u540d\u30de\u30ea\u30f3\uff09\u3068\u306e\u76f8\u4e92\u4f5c\u7528\u3092\u901a\u3058\u3066\u3001\u7d30\u80de\u5185\u3067\u4e0d\u8981\u3068\u306a\u3063\u305f\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u52b9\u7387\u7684\u306b\u5206\u89e3\u3057\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u30e9\u30d5\u30a9\u30ea\u30f3\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u304c\u7570\u5e38\u306b\u84c4\u7a4d\u3057\u3001\u4e0d\u6eb6\u6027\u306e\u30c7\u30f3\u30d7\u30f3\u69d8\u7269\u8cea\u3067\u3042\u308b\u30e9\u30d5\u30a9\u30e9\u5c0f\u4f53\uff08Lafora bodies, LBs\uff09\u304c\u5f62\u6210\u3055\u308c\u308b\u3053\u3068\u306b\u3088\u308a\u3001\u30e9\u30d5\u30a9\u30e9\u75c5\u306e\u75c7\u72b6\u304c\u9032\u884c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/4052149_s.jpg\" alt=\"\u304a\u7c73\u306f\u5927\u4e8b\" class=\"wp-image-91759\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u53d6\u308a\u3001\u4e21\u89aa\u304c\u305d\u308c\u305e\u308cEPM2A\u307e\u305f\u306fNHLRC1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u4fdd\u56e0\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u3069\u3082\u304c\u3053\u306e\u75c5\u6c17\u3092\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f25%\u3067\u3059\u3002\u767a\u75c7\u306f\u901a\u5e38\u30018\u6b73\u304b\u308918\u6b73\u306e\u9593\u306b\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u601d\u6625\u671f\u306e\u9593\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u521d\u671f\u75c7\u72b6\u306b\u306f\u3001\u982d\u75db\u3084\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\uff08\u7b4b\u8089\u304c\u77ed\u6642\u9593\u3051\u3044\u308c\u3093\u3059\u308b\u75c7\u72b6\uff09\u3001\u5168\u822c\u6027\u3051\u3044\u308c\u3093\u3001\u305d\u3057\u3066\u8996\u899a\u7684\u5e7b\u899a\uff08\u5149\u3084\u6a21\u69d8\u304c\u898b\u3048\u308b\u306a\u3069\uff09\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u75c5\u6c17\u304c\u9032\u884c\u3059\u308b\u3068\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u983b\u767a\u3057\u3001\u8a8d\u77e5\u6a5f\u80fd\u304c\u5f90\u3005\u306b\u4f4e\u4e0b\u3057\u3066\u6700\u7d42\u7684\u306b\u306f\u8a8d\u77e5\u75c7\u306b\u81f3\u308a\u307e\u3059\u3002\u767a\u75c7\u304b\u308910\u5e74\u4ee5\u5185\u306b\u3001\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u304c\u4ea1\u304f\u306a\u308b\u3068\u3044\u3046\u91cd\u7be4\u306a\u7d4c\u904e\u3092\u305f\u3069\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30e9\u30d5\u30a9\u30e9\u75c5\u306e\u9032\u884c\u6027\u306e\u7279\u5fb4\u306f\u3001\u7279\u306b\u5f8c\u982d\u8449\u767a\u4f5c\u306e\u983b\u767a\u306b\u73fe\u308c\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u4e00\u6642\u7684\u306b\u8996\u899a\u304c\u5931\u308f\u308c\u305f\u308a\u3001\u8996\u899a\u7684\u5e7b\u899a\u3092\u7d4c\u9a13\u3059\u308b\u3053\u3068\u304c\u3057\u3070\u3057\u3070\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u5168\u822c\u6027\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\u3001\u610f\u8b58\u969c\u5bb3\u3092\u4f34\u3046\u90e8\u5206\u767a\u4f5c\u3001\u305d\u3057\u3066\u8131\u529b\u767a\u4f5c\u306a\u3069\u3082\u89b3\u5bdf\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u767a\u4f5c\u306f\u6642\u9593\u306e\u7d4c\u904e\u3068\u3068\u3082\u306b\u5236\u5fa1\u304c\u96e3\u3057\u304f\u306a\u308a\u3001\u3051\u3044\u308c\u3093\u304c\u6b62\u307e\u3089\u306a\u3044\u72b6\u614b\u3067\u3042\u308b\u300c\u91cd\u7a4d\u72b6\u614b\u300d\u306b\u9665\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u306f\u767a\u4f5c\u306e\u767a\u75c7\u3068\u307b\u307c\u540c\u6642\u671f\u306b\u59cb\u307e\u308a\u3001\u69cb\u97f3\u969c\u5bb3\uff08\u8a00\u8449\u304c\u4e0d\u660e\u77ad\u306b\u306a\u308b\u75c7\u72b6\uff09\u3084\u904b\u52d5\u5931\u8abf\uff08\u6b69\u884c\u3084\u52d5\u4f5c\u304c\u304e\u3053\u3061\u306a\u304f\u306a\u308b\u75c7\u72b6\uff09\u3082\u65e9\u3044\u6bb5\u968e\u3067\u73fe\u308c\u307e\u3059\u3002\u611f\u60c5\u9762\u3067\u3082\u4e0d\u5b89\u5b9a\u3055\u304c\u898b\u3089\u308c\u3001\u9032\u884c\u3059\u308b\u3068\u5b8c\u5168\u306b\u6b69\u884c\u80fd\u529b\u3092\u5931\u3044\u3001\u6700\u7d42\u7684\u306b\u306f\u690d\u7269\u72b6\u614b\u306b\u81f3\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/25617060_s.jpg\" alt=\"\u7247\u624b\u3067\u80a9\u307d\u3093\" class=\"wp-image-88173\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u5178\u578b\u7684\u306a\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\u3092\u57fa\u306b\u884c\u308f\u308c\u307e\u3059\u304c\u3001\u6700\u3082\u78ba\u5b9f\u306a\u65b9\u6cd5\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u3001EPM2A\u307e\u305f\u306fNHLRC1\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u3059\u3002\u307e\u305f\u3001\u30e9\u30d5\u30a9\u30e9\u5c0f\u4f53\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u76ae\u819a\u751f\u691c\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u306a\u304c\u3089\u3001\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u3066\u304a\u3089\u305a\u3001\u6cbb\u7642\u306e\u76ee\u7684\u306f\u75c7\u72b6\u3092\u7de9\u548c\u3057\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u306b\u3042\u308a\u307e\u3059\u3002\u6297\u3066\u3093\u304b\u3093\u85ac\uff08\u4f8b\uff1avalproic acid\u3084benzodiazepines\uff09\u306f\u767a\u4f5c\u3092\u4e00\u6642\u7684\u306b\u6291\u3048\u308b\u52b9\u679c\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u75be\u60a3\u306e\u9032\u884c\u3092\u6b62\u3081\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002\u9032\u884c\u671f\u306b\u306f\u3001\u56a5\u4e0b\u969c\u5bb3\u3084\u8aa4\u56a5\u6027\u80ba\u708e\u3092\u4e88\u9632\u3059\u308b\u305f\u3081\u3001\u80c3\u763b\u306e\u5c0e\u5165\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u7406\u5b66\u7642\u6cd5\u3084\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u3082\u91cd\u8981\u3067\u3001\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u3092\u652f\u3048\u308b\u305f\u3081\u306e\u5305\u62ec\u7684\u306a\u30b1\u30a2\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30e9\u30d5\u30a9\u30e9\u75c5\u306f\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3001\u5168\u4e16\u754c\u306e\u6709\u75c5\u7387\u306f\u7d04100\u4e07\u4eba\u306b4\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306e\u767a\u75c7\u983b\u5ea6\u306f\u5730\u57df\u3084\u6c11\u65cf\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u5730\u4e2d\u6d77\u6cbf\u5cb8\u3001\u30a4\u30f3\u30c9\u3001\u4e2d\u6771\u306a\u3069\u306e\u5730\u57df\u3067\u306f\u6bd4\u8f03\u7684\u591a\u304f\u898b\u3089\u308c\u308b\u4e00\u65b9\u3001\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u306e\u3088\u3046\u306b\u5831\u544a\u4f8b\u304c\u306a\u3044\u5730\u57df\u3082\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u5730\u57df\u5dee\u306f\u3001\u8fd1\u89aa\u5a5a\u306e\u983b\u5ea6\u3084\u7279\u5b9a\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>\u30e9\u30d5\u30a9\u30e9\u75c5\u306b\u95a2\u3059\u308b\u7814\u7a76\u306f\u9032\u884c\u4e2d\u3067\u3042\u308a\u3001\u5c06\u6765\u7684\u306b\u306f\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u73fe\u6642\u70b9\u3067\u306f\u652f\u6301\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306e\u7ba1\u7406\u306b\u306f\u3001\u795e\u7d4c\u5185\u79d1\u533b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3001\u7406\u5b66\u7642\u6cd5\u58eb\u3001\u5fc3\u7406\u5b66\u8005\u306a\u3069\u3001\u8907\u6570\u5206\u91ce\u306e\u5c02\u9580\u5bb6\u304c\u9023\u643a\u3059\u308b\u3053\u3068\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u3067\u304d\u308b\u9650\u308a\u7dad\u6301\u3057\u3001\u5408\u4f75\u75c7\u3092\u4e88\u9632\u3059\u308b\u3053\u3068\u304c\u76ee\u6307\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\/9p13-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">9p13\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">9p13\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3084\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3001\u6cbb\u7642\u6cd5\u3001\u4e88\u5f8c\u3001\u305d\u3057\u3066\u5bb6\u65cf\u304c\u5229\u7528\u3067\u304d\u308b\u652f\u63f4\u7b56\u306b\u3064\u3044\u3066\u89e3\u8aac\u3002\u9069\u5207\u306a\u652f\u63f4\u3068\u533b\u7642\u7ba1\u7406\u3067\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b...<\/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%96_GRM1%E3%80%80%E8%87%AA%E5%BE%8B%E5%8A%A3%E6%80%A7%E5%B0%8F%E8%84%B3%E5%A4%B1%E8%AA%BF%E7%97%8713%E5%9E%8B%EF%BC%88Hereditary_Ataxia%EF%BC%88SCAR13%EF%BC%89%EF%BC%89\"><\/span>[\uff16_GRM1]\u3000\u81ea\u5f8b\u52a3\u6027\u5c0f\u8133\u5931\u8abf\u75c713\u578b\uff08Hereditary Ataxia\uff08SCAR13\uff09\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/516949fe09f224b341f9559284a6a0b5-1024x20.png\" alt=\"6q246q25\u3000\" class=\"wp-image-91575\" style=\"width:1024px;height:auto\"\/><\/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\/df59f407b5ba7ebeeea25b5deebe5031-1024x20.png\" alt=\"GRM1\u3000\" class=\"wp-image-91635\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u300c\u81ea\u5f8b\u52a3\u6027\u5c0f\u8133\u5931\u8abf\u75c713\u578b\uff08SCAR13\uff09\u300d\u306f\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u795e\u7d4c\u75be\u60a3\u3067\u3042\u308a\u3001\u5c0f\u8133\u306e\u6a5f\u80fd\u3084\u767a\u9054\u306b\u6df1\u304f\u95a2\u308f\u308b\u907a\u4f1d\u5b50GRM1\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u4ee3\u8b1d\u578b\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u53d7\u5bb9\u4f531\uff08Metabotropic Glutamate Receptor 1\u3001mGluR1\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u5c0f\u8133\u306e\u30d7\u30eb\u30ad\u30f3\u30a8\u7d30\u80de\u306b\u591a\u304f\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u306e\u53d7\u5bb9\u4f53\u306f\u3001\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3067\u3042\u308b\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u3068\u7d50\u5408\u3059\u308b\u3053\u3068\u3067\u795e\u7d4c\u7d30\u80de\u5185\u306b\u4fe1\u53f7\u3092\u9001\u308a\u3001\u30b7\u30ca\u30d7\u30b9\u306e\u50cd\u304d\u3092\u8abf\u6574\u3057\u307e\u3059\u3002\u7279\u306b\u3001\u5c0f\u8133\u3067\u306e\u5b66\u7fd2\u3084\u904b\u52d5\u306e\u8abf\u6574\u306b\u91cd\u8981\u306a\u300c\u9577\u671f\u30b7\u30ca\u30d7\u30b9\u53ef\u5851\u6027\u300d\u306e\u7dad\u6301\u306b\u95a2\u308f\u308a\u307e\u3059\u3002\u3053\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u5c0f\u8133\u306e\u767a\u9054\u3084\u904b\u52d5\u5236\u5fa1\u304c\u969c\u5bb3\u3055\u308c\u3001SCAR13\u306e\u3088\u3046\u306a\u75c5\u614b\u304c\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>SCAR13\u306e\u767a\u75c7\u306f\u3001\u901a\u5e38\u3001\u4e73\u5e7c\u5150\u671f\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306e\u4e3b\u306a\u7279\u5fb4\u306f\u3001\u904b\u52d5\u3084\u7cbe\u795e\u306e\u767a\u9054\u306e\u9045\u308c\u3067\u3059\u3002\u60a3\u8005\u306f\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u8a00\u8a9e\u80fd\u529b\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3059\u308b\u304b\u3001\u5168\u304f\u767a\u9054\u3057\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u59ff\u52e2\u3084\u6b69\u884c\u306e\u8abf\u6574\u304c\u96e3\u3057\u3044\u5931\u8abf\uff08\u30a2\u30bf\u30ad\u30b7\u30a2\uff09\u3001\u7b4b\u529b\u306e\u4f4e\u4e0b\u3001\u53cd\u5c04\u304c\u904e\u5270\u306b\u5f37\u304f\u306a\u308b\u30cf\u30a4\u30d1\u30fc\u30ea\u30d5\u30ec\u30af\u30b7\u30a2\u3001\u305d\u3057\u3066\u773c\u7403\u306e\u7570\u5e38\u306a\u52d5\u304d\uff08\u773c\u632f\u306a\u3069\uff09\u3082\u3088\u304f\u898b\u3089\u308c\u308b\u75c7\u72b6\u3067\u3059\u3002\u3055\u3089\u306b\u3001\u7672\u7647\u3084\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\uff08\u30dd\u30ea\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\uff09\u3092\u4f34\u3046\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u753b\u50cf\u8a3a\u65ad\u3067\u306f\u3001\u5c0f\u8133\u306e\u840e\u7e2e\u3084\u8133\u5ba4\u306e\u62e1\u5927\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/30627637_s.jpg\" alt=\"\u30e2\u30a2\u30fc\u81d3\u5668\" class=\"wp-image-91762\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3042\u308b\u5178\u578b\u7684\u306a\u75c7\u4f8b\u3067\u306f\u30018\u6b73\u306e\u60a3\u8005\u304c\u6b69\u884c\u306e\u81ea\u7acb\u304c\u3067\u304d\u305a\u3001\u8a00\u8a9e\u767a\u9054\u3082\u898b\u3089\u308c\u306a\u3044\u3068\u3044\u3046\u91cd\u5ea6\u306e\u75c7\u72b6\u3092\u793a\u3057\u307e\u3057\u305f\u3002\u3053\u306e\u60a3\u8005\u3067\u306f\u5168\u8eab\u306e\u7b4b\u7dca\u5f35\u304c\u4f4e\u4e0b\u3057\u3001\u8efd\u5ea6\u306e\u773c\u632f\u3084\u56a5\u4e0b\u969c\u5bb3\u3082\u78ba\u8a8d\u3055\u308c\u307e\u3057\u305f\u3002\u907a\u4f1d\u5b50\u89e3\u6790\u306e\u7d50\u679c\u3001GRM1\u907a\u4f1d\u5b50\u306b\u304a\u3044\u3066\u75c5\u7684\u306a\u4e8c\u91cd\u5909\u7570\uff08\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u5909\u7570\uff09\u304c\u898b\u3064\u304b\u308a\u3001\u3053\u308c\u304cSCAR13\u306e\u539f\u56e0\u3067\u3042\u308b\u3068\u8a3a\u65ad\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>SCAR13\u306f\u9032\u884c\u6027\u306e\u5c0f\u8133\u75be\u60a3\u3067\u3042\u308a\u3001\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u306b\u306f\u65e9\u671f\u8a3a\u65ad\u3068\u5305\u62ec\u7684\u306a\u652f\u63f4\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u6cbb\u7642\u306e\u76ee\u7684\u306f\u3001\u75c7\u72b6\u306e\u9032\u884c\u3092\u6291\u3048\u306a\u304c\u3089\u751f\u6d3b\u306e\u8cea\u3092\u6700\u5927\u9650\u306b\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u3067\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u591a\u8077\u7a2e\u306b\u3088\u308b\u30c1\u30fc\u30e0\u652f\u63f4\u304c\u63a8\u5968\u3055\u308c\u3066\u304a\u308a\u3001\u795e\u7d4c\u79d1\u533b\u3001\u7406\u5b66\u7642\u6cd5\u58eb\u3001\u4f5c\u696d\u7642\u6cd5\u58eb\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u533b\u3001\u6804\u990a\u58eb\u3001\u8a00\u8a9e\u7642\u6cd5\u58eb\u306a\u3069\u304c\u95a2\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3068\u3048\u3070\u3001\u904b\u52d5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u306b\u306f\u3001\u30d0\u30e9\u30f3\u30b9\u8a13\u7df4\u3084\u6b69\u884c\u8a13\u7df4\u3001\u7b4b\u529b\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u304c\u6709\u52b9\u3067\u3059\u3002\u60a3\u8005\u306e\u72b6\u614b\u306b\u5fdc\u3058\u3066\u3001\u6756\u3084\u6b69\u884c\u5668\u306a\u3069\u306e\u88dc\u52a9\u5177\u3092\u5229\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u81ea\u7acb\u3092\u652f\u63f4\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u8aa4\u56a5\u3092\u9632\u3050\u305f\u3081\u306b\u306f\u3001\u98df\u4e8b\u306e\u5f62\u614b\u3092\u8abf\u6574\u3057\u305f\u308a\u3001\u6804\u990a\u7ba1\u7406\u3092\u5fb9\u5e95\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u8a00\u8a9e\u7642\u6cd5\u58eb\u304c\u60a3\u8005\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3092\u5de5\u592b\u3057\u3001\u30c7\u30b8\u30bf\u30eb\u30c7\u30d0\u30a4\u30b9\u306e\u5229\u7528\u3092\u63d0\u6848\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/23887375_s.jpg\" alt=\"\u3044\u3064\u306e\u65e5\u304b\u3001\u8a71\u305b\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3088\u3046\u306b\u3002\" class=\"wp-image-87397\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u4e00\u90e8\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u306f\u85ac\u7269\u7642\u6cd5\u304c\u52b9\u679c\u3092\u767a\u63ee\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u7b4b\u8089\u306e\u7dca\u5f35\u3092\u548c\u3089\u3052\u308b\u305f\u3081\u306b\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\u3084\u30c1\u30b6\u30cb\u30b8\u30f3\u304c\u4f7f\u7528\u3055\u308c\u3001\u7cbe\u795e\u7684\u306a\u75c7\u72b6\uff08\u6291\u3046\u3064\u3084\u4e0d\u5b89\u306a\u3069\uff09\u306b\u306f\u6a19\u6e96\u7684\u306a\u7cbe\u795e\u79d1\u6cbb\u7642\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u5bb6\u5ead\u74b0\u5883\u3092\u8abf\u6574\u3059\u308b\u3053\u3068\u3067\u8ee2\u5012\u306a\u3069\u306e\u30ea\u30b9\u30af\u3092\u6e1b\u3089\u3057\u3001\u60a3\u8005\u306e\u5b89\u5168\u3092\u78ba\u4fdd\u3059\u308b\u3053\u3068\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>SCAR13\u306f\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u5c02\u9580\u7684\u306a\u533b\u7642\u652f\u63f4\u3084\u798f\u7949\u5236\u5ea6\u306e\u6d3b\u7528\u304c\u5fc5\u8981\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u60a3\u8005\u306b\u5408\u308f\u305b\u305f\u500b\u5225\u306e\u30b1\u30a2\u3092\u63d0\u4f9b\u3059\u308b\u3053\u3068\u3067\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u3053\u306e\u3088\u3046\u306b\u3001\u533b\u5b66\u7684\u306a\u652f\u63f4\u3068\u5bb6\u65cf\u306e\u5354\u529b\u304c\u4e00\u4f53\u3068\u306a\u308b\u3053\u3068\u3067\u3001\u60a3\u8005\u304c\u3067\u304d\u308b\u9650\u308a\u5145\u5b9f\u3057\u305f\u751f\u6d3b\u3092\u9001\u308c\u308b\u3088\u3046\u306b\u3059\u308b\u3053\u3068\u304c\u76ee\u6307\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=\"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%97_SYNE1%E3%80%80SYNE1%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%88SYNE1_Deficiency%EF%BC%89\"><\/span>[\uff17_SYNE1]\u3000SYNE1\u6b20\u640d\u75c7\uff08SYNE1 Deficiency\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/516949fe09f224b341f9559284a6a0b5-1024x20.png\" alt=\"6q246q25\u3000\" class=\"wp-image-91575\" style=\"width:1024px;height:auto\"\/><\/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\/SYNE1-hgtIdeo_genome_32990d_1a5e80-1024x20.png\" alt=\"SYNE1 \" class=\"wp-image-91655\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>SYNE1\u6b20\u640d\u75c7\u306f\u3001\u67d3\u8272\u4f536q25.2\u306b\u4f4d\u7f6e\u3059\u308bSYNE1\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\u30cd\u30b9\u30d7\u30ea\u30f31\uff08Nesprin-1\uff09\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u30cd\u30b9\u30d7\u30ea\u30f31\u306f\u7d30\u80de\u306e\u69cb\u9020\u3092\u652f\u3048\u308b\u5f79\u5272\u3092\u679c\u305f\u3057\u3001\u7279\u306b\u7d30\u80de\u6838\u3092\u7d30\u80de\u9aa8\u683c\u306b\u63a5\u7d9a\u3059\u308b\u3053\u3068\u3067\u3001\u7d30\u80de\u306e\u6a5f\u80fd\u3068\u5b89\u5b9a\u6027\u3092\u4fdd\u3064\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002SYNE1\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u7d30\u80de\u5185\u306e\u69cb\u9020\u7684\u5b89\u5b9a\u6027\u304c\u640d\u306a\u308f\u308c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a3\u3064\u306e\u75be\u60a3\u306b\u3064\u306a\u304c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>1\u3064\u76ee\u306f\u300c\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u6027\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c78\u578b\uff08SCAR8\uff09\u300d\u3067\u3059\u3002\u3053\u308c\u306f\u5c0f\u8133\u306b\u95a2\u9023\u3059\u308b\u75be\u60a3\u3067\u3001\u6b69\u884c\u306e\u5354\u8abf\u6027\u304c\u5931\u308f\u308c\u308b\u3001\u624b\u306e\u52d5\u304d\u304c\u304e\u3053\u3061\u306a\u304f\u306a\u308b\u3001\u8a71\u3057\u65b9\u304c\u4e0d\u660e\u77ad\u306b\u306a\u308b\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u5f90\u3005\u306b\u9032\u884c\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u5c0f\u8133\u306e\u9000\u884c\u5909\u6027\u304c\u539f\u56e0\u3067\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u8133\u5e79\u3084\u810a\u9ac4\u306e\u6a5f\u80fd\u306b\u3082\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>2\u3064\u76ee\u306f\u300c\u30a8\u30e1\u30ea\u30fc\u30c9\u30ec\u30a4\u30d5\u30a1\u30b9\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc4\u578b\uff08EDMD4\uff09\u300d\u3067\u3001\u7b4b\u529b\u4f4e\u4e0b\u3084\u7b4b\u8089\u306e\u840e\u7e2e\u3092\u7279\u5fb4\u3068\u3059\u308b\u9032\u884c\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u3067\u306f\u3001\u65e9\u671f\u306b\u8098\u3084\u30a2\u30ad\u30ec\u30b9\u8171\u3001\u810a\u67f1\u306e\u95a2\u7bc0\u304c\u62d8\u7e2e\u3057\u3001\u5fc3\u7b4b\u75c7\u3084\u5fc3\u81d3\u4f1d\u5c0e\u7570\u5e38\u304c\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>3\u3064\u76ee\u306f\u300c\u5148\u5929\u6027\u591a\u767a\u6027\u95a2\u7bc0\u62d8\u7e2e\u75c73\u578b\uff08AMC3\uff09\u300d\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u80ce\u5150\u671f\u306e\u904b\u52d5\u304c\u4f4e\u4e0b\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3082\u306e\u3067\u3001\u95a2\u7bc0\u306e\u62d8\u7e2e\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3001\u6b69\u884c\u80fd\u529b\u306e\u55aa\u5931\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u9aa8\u683c\u306e\u7570\u5e38\u3084\u6307\u306e\u95a2\u7bc0\u306e\u62d8\u7e2e\u304c\u9577\u671f\u9593\u6301\u7d9a\u3059\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31127225_s.jpg\" alt=\"\u5bdd\u3066\u3044\u308b\u5b50\u4f9b\" class=\"wp-image-88779\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u601d\u6625\u671f\u4ee5\u964d\u306e\u547c\u5438\u4e0d\u5168\u306a\u3069\u304c\u75c7\u72b6\u306b\u542b\u307e\u308c\u307e\u3059\u3002\u65b0\u751f\u5150\u671f\u767a\u75c7\u578b\u3067\u306f\u3001\u300c\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\u300d\u3068\u3057\u3066\u51fa\u751f\u3057\u3001\u80ce\u5150\u671f\u306e\u904b\u52d5\u4f4e\u4e0b\u3084\u91cd\u5ea6\u306e\u7b4b\u4f4e\u7dca\u5f35\u3001\u591a\u767a\u6027\u95a2\u7bc0\u62d8\u7e2e\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"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:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>SYNE1\u6b20\u640d\u75c7\u306e\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u7684\u306a\u75c7\u72b6\u3092\u57fa\u306b\u3057\u3001SYNE1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u73fe\u6642\u70b9\u3067\u3053\u306e\u75be\u60a3\u3092\u76f4\u63a5\u6cbb\u7642\u3059\u308b\u65b9\u6cd5\u306f\u306a\u304f\u3001\u4e3b\u306b\u75c7\u72b6\u306e\u7ba1\u7406\u3068\u5408\u4f75\u75c7\u306e\u4e88\u9632\u3092\u76ee\u7684\u3068\u3057\u305f\u30b1\u30a2\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u795e\u7d4c\u5185\u79d1\u533b\u3001\u4f5c\u696d\u7642\u6cd5\u58eb\u3001\u7406\u5b66\u7642\u6cd5\u58eb\u3001\u6574\u5f62\u5916\u79d1\u533b\u3001\u6804\u990a\u58eb\u3001\u8a00\u8a9e\u7642\u6cd5\u58eb\u3001\u547c\u5438\u7642\u6cd5\u58eb\u3001\u5fc3\u7406\u58eb\u306a\u3069\u3001\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u652f\u63f4\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>SYNE1\u6b20\u640d\u75c7\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u60a3\u8005\u306e\u4e21\u89aa\u306f\u305d\u308c\u305e\u308c1\u3064\u306e\u5909\u7570\u3092\u6301\u3064\u7121\u75c7\u72b6\u30ad\u30e3\u30ea\u30a2\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u60a3\u8005\u306e\u304d\u3087\u3046\u3060\u3044\u304c\u75be\u60a3\u3092\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f25\uff05\u3001\u7121\u75c7\u72b6\u30ad\u30e3\u30ea\u30a2\u3067\u3042\u308b\u78ba\u7387\u306f50\uff05\u3001\u5909\u7570\u3092\u6301\u305f\u306a\u3044\u78ba\u7387\u306f25\uff05\u3067\u3059\u3002\u5bb6\u65cf\u5185\u306e\u30ad\u30e3\u30ea\u30a2\u8a3a\u65ad\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3082\u53ef\u80fd\u3067\u3042\u308a\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"452\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31291620_s.jpg\" alt=\"\u5730\u7403\" class=\"wp-image-91765\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u3082\u3068\u3082\u3068\u30d5\u30e9\u30f3\u30b9\u7cfb\u30ab\u30ca\u30c0\u4eba\u96c6\u56e3\u3067\u6700\u521d\u306b\u5831\u544a\u3055\u308c\u307e\u3057\u305f\u304c\u3001\u73fe\u5728\u3067\u306f\u65e5\u672c\u3001\u30e8\u30fc\u30ed\u30c3\u30d1\u3001\u4e2d\u6771\u3001\u30d6\u30e9\u30b8\u30eb\u306a\u3069\u4e16\u754c\u5404\u5730\u3067\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u30d5\u30e9\u30f3\u30b9\u7cfb\u30ab\u30ca\u30c0\u4eba\u96c6\u56e3\u3067\u306f\u3001\u540c\u3058\u907a\u4f1d\u7684\u80cc\u666f\u3092\u6301\u3064\u4eba\u304c\u591a\u3044\u305f\u3081\u3001\u767a\u75c7\u7387\u304c\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u6cd5\u304c\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044\u73fe\u72b6\u3067\u306f\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u7dad\u6301\u3057\u3001\u3067\u304d\u308b\u3060\u3051\u5408\u4f75\u75c7\u3092\u4e88\u9632\u3059\u308b\u305f\u3081\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u9069\u5fdc\u652f\u63f4\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%98_ARID1B%E3%80%80ARID1B%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3%EF%BC%9B%E5%85%88%E5%A4%A9%E6%80%A7%E6%A8%AA%E9%9A%94%E8%86%9C%E3%83%98%E3%83%AB%E3%83%8B%E3%82%A2%EF%BC%9A%E3%82%B3%E3%83%95%E3%82%A3%E3%83%B3%E3%83%BB%E3%82%B7%E3%83%AA%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88ARID1B-Related_Disorder_Congenital_Diaphragmatic_Hernia_Coffin-Siris_Syndrome%EF%BC%89\"><\/span>[\uff18_ARID1B]\u3000ARID1B\u95a2\u9023\u75be\u60a3\uff1b\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff1a\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\uff08ARID1B-Related Disorder; Congenital Diaphragmatic Hernia; Coffin-Siris Syndrome\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/516949fe09f224b341f9559284a6a0b5-1024x20.png\" alt=\"6q246q25\u3000\" class=\"wp-image-91575\" style=\"width:1024px;height:auto\"\/><\/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\/ed5dfe88bdc12eb3ec33b42c423fa9bd-1024x20.png\" alt=\"ARID1B\u3000\" class=\"wp-image-91666\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ARID1B\u95a2\u9023\u75be\u60a3\uff08ARID1B-Related Disorder, ARID1B-RD\uff09\u306f\u3001ARID1B\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u75be\u60a3\u3067\u3001\u81e8\u5e8a\u7684\u306a\u75c7\u72b6\u306b\u306f\u5e45\u5e83\u3044\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u5178\u578b\u7684\u306a\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa41\uff08Coffin-Siris Syndrome 1, CSS1\uff09\u3092\u542b\u3080\u4e00\u9023\u306e\u75c7\u72b6\u3068\u3057\u3066\u7279\u5fb4\u3065\u3051\u3089\u308c\u307e\u3059\u3002ARID1B\u907a\u4f1d\u5b50\u306f\u67d3\u8272\u4f536q25.3\u9818\u57df\u306b\u4f4d\u7f6e\u3057\u3001\u8ee2\u5199\u306e\u6d3b\u6027\u5316\u304a\u3088\u3073\u6291\u5236\u306b\u95a2\u4e0e\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u300cAT-rich interactive domain-containing protein 1B\u300d\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\uff08DNA\u3068\u30d2\u30b9\u30c8\u30f3\u306e\u69cb\u9020\u3092ATP\u4f9d\u5b58\u7684\u306b\u5909\u5316\u3055\u305b\u308b\u30d7\u30ed\u30bb\u30b9\uff09\u3092\u4ecb\u3057\u3066\u907a\u4f1d\u5b50\u767a\u73fe\u3092\u8abf\u7bc0\u3057\u3001\u7279\u306b\u795e\u7d4c\u7d30\u80de\u306e\u767a\u9054\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u306f\u3001\u7d30\u80de\u5185\u306eDNA\u304c\u30d2\u30b9\u30c8\u30f3\u3068\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u5dfb\u304d\u4ed8\u3044\u3066\u69cb\u9020\u3092\u5f62\u6210\u3059\u308b\u30af\u30ed\u30de\u30c1\u30f3\u3092\u3001\u9175\u7d20\u7684\u306b\u518d\u69cb\u7bc9\u3059\u308b\u30d7\u30ed\u30bb\u30b9\u3067\u3059\u3002\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u306b\u3088\u3063\u3066\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u304c\u8ee2\u5199\u53ef\u80fd\u306a\u72b6\u614b\u306b\u306a\u308a\u3001\u7d30\u80de\u306e\u6210\u9577\u3084\u5206\u5316\u304c\u9069\u5207\u306b\u9032\u884c\u3057\u307e\u3059\u3002ARID1B\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001SWI\/SNF\u3068\u547c\u3070\u308c\u308b\u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u8907\u5408\u4f53\u306e\u4e3b\u8981\u69cb\u6210\u8981\u7d20\u3067\u3042\u308a\u3001\u5e79\u7d30\u80de\u304c\u795e\u7d4c\u7d30\u80de\u3078\u3068\u5206\u5316\u3059\u308b\u969b\u306b\u4e0d\u53ef\u6b20\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u904e\u7a0b\u304c\u9069\u5207\u306b\u884c\u308f\u308c\u306a\u3044\u5834\u5408\u3001ARID1B\u95a2\u9023\u75be\u60a3\u304c\u767a\u75c7\u3057\u3001\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/25755019_s.jpg\" alt=\"\u30df\u30c8\u30f3\" class=\"wp-image-90052\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ARID1B\u95a2\u9023\u75be\u60a3\u306e\u4e2d\u5fc3\u7684\u306a\u7279\u5fb4\u306e\u4e00\u3064\u306f\u3001\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u75c7\u72b6\u7fa4\u3067\u3059\u3002\u3053\u306e\u75c7\u5019\u7fa4\u3067\u306f\u3001\u624b\u8db3\u306e\u7b2c5\u6307\uff08\u5c0f\u6307\uff09\u306e\u722a\u3084\u672b\u7bc0\u9aa8\u304c\u6b20\u640d\u307e\u305f\u306f\u672a\u767a\u9054\u306b\u306a\u308b\u307b\u304b\u3001\u767a\u9054\u9045\u6ede\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u5e83\u3044\u9f3b\u6881\u3084\u539a\u3044\u5507\uff09\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u904e\u5270\u306a\u4f53\u6bdb\uff08\u7279\u306b\u80cc\u4e2d\u3084\u9854\uff09\u3068\u3044\u3063\u305f\u8eab\u4f53\u7684\u7279\u5fb4\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306b\u52a0\u3048\u3001\u5fc3\u81d3\u3001\u6d88\u5316\u5668\u3001\u6ccc\u5c3f\u5668\u3001\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306b\u5947\u5f62\u304c\u751f\u3058\u308b\u5834\u5408\u3082\u3042\u308a\u3001\u6442\u98df\u56f0\u96e3\u3084\u4f4e\u8eab\u9577\u3001\u773c\u79d1\u7684\u7570\u5e38\uff08\u8fd1\u8996\u3084\u659c\u8996\uff09\u3001\u96e3\u8074\u3001\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u75c7\u72b6\u3082\u983b\u7e41\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u3001\u75be\u60a3\u306e\u91cd\u75c7\u5ea6\u3084\u500b\u3005\u306e\u60a3\u8005\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u591a\u69d8\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u8a3a\u65ad\u306f\u3001\u307e\u305a\u60a3\u8005\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u89b3\u5bdf\u3057\u3001\u6b21\u306b\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066ARID1B\u907a\u4f1d\u5b50\u306e\u75c5\u539f\u6027\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002\u591a\u304f\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u65b0\u751f\u5909\u7570\uff08de novo mutation\uff09\u3068\u547c\u3070\u308c\u308b\u3001\u751f\u307e\u308c\u3064\u304d\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u3066\u3044\u306a\u3044\u7a81\u7136\u5909\u7570\u304c\u539f\u56e0\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u4e00\u90e8\u3067\u306f\u5bb6\u65cf\u6027\u306e\u907a\u4f1d\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u75c5\u539f\u6027\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u4f9b\u306b\u907a\u4f1d\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/30296468_s.jpg\" alt=\"\u307f\u307f\u3092\u3055\u308f\u308b\" class=\"wp-image-90897\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6cbb\u7642\u306e\u4e3b\u306a\u76ee\u7684\u306f\u3001\u75c7\u72b6\u3092\u7ba1\u7406\u3057\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u3067\u3059\u3002\u4f8b\u3048\u3070\u3001\u773c\u79d1\u3084\u8033\u9f3b\u79d1\u3067\u306e\u8996\u899a\u3084\u8074\u899a\u306e\u88dc\u6b63\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3084\u6d88\u5316\u7ba1\u9006\u6d41\u75c7\u306e\u6cbb\u7642\u3001\u6442\u98df\u56f0\u96e3\u3078\u306e\u5bfe\u5fdc\uff08\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u7d4c\u9f3b\u80c3\u7ba1\u3084\u80c3\u763b\u3092\u5229\u7528\uff09\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3066\u306f\u3001\u8a00\u8a9e\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u7406\u5b66\u7642\u6cd5\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u884c\u52d5\u9762\u3067\u306e\u554f\u984c\u3084\u591a\u52d5\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u306f\u3001\u884c\u52d5\u7642\u6cd5\u3084\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u85ac\u7269\u7642\u6cd5\u304c\u52b9\u679c\u7684\u3067\u3059\u3002\u3055\u3089\u306b\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u4f34\u3046\u60a3\u8005\u306b\u306f\u3001\u6a19\u6e96\u7684\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e88\u5f8c\u306b\u95a2\u3057\u3066\u306f\u3001\u30c7\u30fc\u30bf\u304c\u9650\u3089\u308c\u3066\u3044\u308b\u3082\u306e\u306e\u300150\u6b73\u4ee5\u4e0a\u307e\u3067\u751f\u5b58\u3057\u305f\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3053\u3068\u304b\u3089\u3001\u6210\u4eba\u307e\u3067\u306e\u751f\u5b58\u306f\u53ef\u80fd\u3067\u3042\u308a\u3001\u9069\u5207\u306a\u652f\u63f4\u3068\u9577\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u304c\u91cd\u8981\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u75c7\u72b6\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u305f\u3081\u3001\u305d\u308c\u305e\u308c\u306e\u60a3\u8005\u306b\u5fdc\u3058\u305f\u67d4\u8edf\u306a\u5bfe\u5fdc\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/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:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ARID1B\u95a2\u9023\u75be\u60a3\u306e\u767a\u751f\u983b\u5ea6\u306f\u304a\u3088\u305d1\u4e07\u4eba\u304b\u308910\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u3092\u65e9\u671f\u306b\u767a\u898b\u3057\u3001\u9069\u5207\u306a\u6cbb\u7642\u3068\u652f\u63f4\u3092\u63d0\u4f9b\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u8a3a\u65ad\u6280\u8853\u306e\u666e\u53ca\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u4eca\u5f8c\u3001\u3055\u3089\u306a\u308b\u7814\u7a76\u3084\u5553\u767a\u6d3b\u52d5\u304c\u6c42\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u60a3\u8005\u3084\u305d\u306e\u5bb6\u65cf\u304c\u3088\u308a\u826f\u3044\u751f\u6d3b\u3092\u9001\u308c\u308b\u3088\u3046\u3001\u793e\u4f1a\u5168\u4f53\u3067\u652f\u3048\u308b\u4ed5\u7d44\u307f\u3092\u69cb\u7bc9\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%99_SERAC1%E3%80%80%E9%9B%A3%E8%81%B4%E3%80%81%E8%84%B3%E7%97%87%E3%80%81%E3%83%AA%E3%83%BC%E6%A7%98%E7%97%87%E5%80%99%E7%BE%A4%E3%82%92%E4%BC%B4%E3%81%86_3-%E3%83%A1%E3%83%81%E3%83%AB%E3%82%B0%E3%83%AB%E3%82%BF%E3%82%B3%E3%83%B3%E9%85%B8%E5%B0%BF%E7%97%87%EF%BC%883-methylglutaconic_aciduria_with_deafness_encephalopathy_and_Leigh-like_syndrome_MEGDEL%EF%BC%89\"><\/span>[\uff19_SERAC1]\u3000\u96e3\u8074\u3001\u8133\u75c7\u3001\u30ea\u30fc\u69d8\u75c7\u5019\u7fa4\u3092\u4f34\u3046 3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7\uff083-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/516949fe09f224b341f9559284a6a0b5-1024x20.png\" alt=\"6q246q25\u3000\" class=\"wp-image-91575\" style=\"width:1024px;height:auto\"\/><\/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\/SERAC1-hgtIdeo_genome_399261_1acb70-1024x20.png\" alt=\"\" class=\"wp-image-91688\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7\u3092\u4f34\u3046\u96e3\u8074\u3001\u8133\u75c7\u3001\u30ea\u30fc\u69d8\u75c7\u5019\u7fa4\uff08MEGDEL\uff09\u306f\u3001\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u30016q25.3\u67d3\u8272\u4f53\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bSERAC1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u907a\u4f1d\u3057\u3001\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u53d7\u3051\u7d99\u3044\u3060\u75c5\u7684\u306a\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u767a\u75c7\u3057\u307e\u3059\u3002SERAC1\u907a\u4f1d\u5b50\u306f\u3001\u30bf\u30f3\u30d1\u30af\u8ceaSERAC1\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u6a5f\u80fd\u3084\u7d30\u80de\u5185\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306e\u8f38\u9001\u306b\u4e0d\u53ef\u6b20\u306a\u30db\u30b9\u30d5\u30a1\u30c1\u30b8\u30eb\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u306e\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001SERAC1\u306f\u30db\u30b9\u30d5\u30a1\u30c1\u30b8\u30eb\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb-36:1\u306e\u751f\u6210\u306b\u95a2\u4e0e\u3059\u308b\u9175\u7d20\u53cd\u5fdc\u3084\u3001\u30d3\u30b9\uff08\u30e2\u30ce\u30a2\u30b7\u30eb\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\uff09\u30ea\u30f3\u9178\uff08BMP\uff09\u306e\u751f\u5408\u6210\u7d4c\u8def\u306b\u3082\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u62c5\u3046SERAC1\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u3044\u3068\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u3084\u7d30\u80de\u5185\u306e\u8102\u8cea\u8f38\u9001\u304c\u6df1\u523b\u306b\u5f71\u97ff\u3092\u53d7\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308bMEGDEL\u75c7\u5019\u7fa4\u306f\u3001\u4e73\u5e7c\u5150\u671f\u306b\u73fe\u308c\u308b\u75be\u60a3\u3067\u3001\u4e3b\u306b\u7cbe\u795e\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3084\u9000\u884c\u3001\u611f\u97f3\u6027\u96e3\u8074\u3001\u75d9\u7e2e\uff08\u7b4b\u8089\u304c\u5e38\u306b\u786c\u76f4\u3057\u305f\u72b6\u614b\uff09\u3084\u30b8\u30b9\u30c8\u30cb\u30a2\uff08\u7570\u5e38\u306a\u7b4b\u7dca\u5f35\u306b\u3088\u308b\u4f53\u306e\u52d5\u304d\u306e\u7570\u5e38\uff09\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u52a0\u3048\u3066\u3001\u5c3f\u4e2d\u306e3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u3068\u3044\u3046\u7279\u5b9a\u306e\u6709\u6a5f\u9178\u304c\u901a\u5e38\u3088\u308a\u9ad8\u6fc3\u5ea6\u3067\u6392\u6cc4\u3055\u308c\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002\u8133\u306e\u753b\u50cf\u691c\u67fb\u3067\u306f\u3001\u5927\u8133\u304a\u3088\u3073\u5c0f\u8133\u306e\u840e\u7e2e\u304c\u8a8d\u3081\u3089\u308c\u3001\u30ea\u30fc\u75c7\u5019\u7fa4\u306b\u898b\u3089\u308c\u308b\u3088\u3046\u306a\u57fa\u5e95\u6838\u306e\u75c5\u5909\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002\u307e\u305f\u3001\u8840\u6db2\u691c\u67fb\u3067\u306f\u4e73\u9178\u3084\u30a2\u30e9\u30cb\u30f3\u6fc3\u5ea6\u306e\u5897\u52a0\u304c\u898b\u3089\u308c\u308b\u307b\u304b\u3001\u7dda\u7dad\u82bd\u7d30\u80de\u5185\u3067\u306e\u30db\u30b9\u30d5\u30a1\u30c1\u30b8\u30eb\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u3068\u30ab\u30eb\u30b8\u30aa\u30ea\u30d4\u30f3\u306e\u7570\u5e38\u3001\u3055\u3089\u306b\u7d30\u80de\u5185\u306e\u672a\u30a8\u30b9\u30c6\u30eb\u5316\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306e\u84c4\u7a4d\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u3001SERAC1\u306e\u6a5f\u80fd\u304c\u6b63\u5e38\u306b\u50cd\u304b\u306a\u3044\u7d50\u679c\u3068\u3057\u3066\u8d77\u3053\u308b\u73fe\u8c61\u3067\u3059\u3002<\/p>\n\n\n\n<div 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class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u60a3\u8005\u306e\u5e74\u9f62\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u9032\u884c\u3092\u793a\u3057\u307e\u3059\u3002\u65b0\u751f\u5150\u671f\u306b\u306f\u4f4e\u8840\u7cd6\u3084\u611f\u67d3\u75c7\u306b\u985e\u4f3c\u3057\u305f\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u611f\u67d3\u6e90\u306f\u7279\u5b9a\u3055\u308c\u307e\u305b\u3093\u3002\u4e73\u5150\u671f\u306b\u306f\u6442\u98df\u56f0\u96e3\u3001\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u3001\u4f53\u5e79\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u9855\u8457\u3068\u306a\u308a\u3001\u4e00\u90e8\u306e\u4e73\u5150\u3067\u306f\u809d\u969c\u5bb3\u304c\u4e00\u6642\u7684\u306b\u751f\u3058\u307e\u3059\u3002\u809d\u969c\u5bb3\u306e\u7bc4\u56f2\u306f\u8efd\u5ea6\u306a\u30c8\u30e9\u30f3\u30b9\u30a2\u30df\u30ca\u30fc\u30bc\u306e\u5909\u52d5\u304b\u3089\u91cd\u7be4\u306a\u809d\u4e0d\u5168\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u30022\u6b73\u9803\u307e\u3067\u306b\u3001\u96e3\u8074\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u75d9\u7e2e\u304c\u9032\u884c\u3057\u3001\u767a\u9054\u3057\u305f\u904b\u52d5\u80fd\u529b\u3084\u8a8d\u77e5\u80fd\u529b\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u3053\u306e\u6bb5\u968e\u306b\u306a\u308b\u3068\u3001\u60a3\u8005\u306f\u65e5\u5e38\u751f\u6d3b\u5168\u822c\u3067\u4ecb\u52a9\u304c\u5fc5\u8981\u3068\u306a\u308a\u3001\u8a00\u8449\u306e\u767a\u9054\u3082\u307b\u3068\u3093\u3069\u898b\u3089\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u3084\u5c3f\u4e2d\u3067\u306e3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u306e\u6392\u6cc4\u91cf\u5897\u52a0\u3068\u3044\u3063\u305f\u4ee3\u8b1d\u7684\u6240\u898b\u306b\u57fa\u3065\u304d\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067SERAC1\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u3067\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"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:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6cbb\u7642\u306f\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3001\u8907\u6570\u306e\u5c02\u9580\u5bb6\u304b\u3089\u306a\u308b\u30c1\u30fc\u30e0\u306b\u3088\u308b\u7dcf\u5408\u7684\u306a\u30b1\u30a2\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u7d4c\u53e3\u307e\u305f\u306f\u9ac4\u8154\u5185\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\u304c\u4e00\u90e8\u306e\u60a3\u8005\u3067\u75d9\u7e2e\u3092\u4e00\u6642\u7684\u306b\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u904e\u5270\u306a\u553e\u6db2\u5206\u6ccc\u304c\u547c\u5438\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u5834\u5408\u306b\u306f\u3001\u553e\u6db2\u817a\u3078\u306e\u30dc\u30c4\u30ea\u30cc\u30b9\u6bd2\u7d20\u6ce8\u5c04\u3084\u553e\u6db2\u817a\u7ba1\u306e\u624b\u8853\u7684\u51e6\u7f6e\u304c\u8003\u616e\u3055\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u98df\u4e8b\u7642\u6cd5\u306f\u7d4c\u9f3b\u80c3\u7ba1\u3084\u80c3\u763b\u3092\u901a\u3058\u3066\u884c\u308f\u308c\u3001\u3053\u308c\u306b\u3088\u3063\u3066\u6804\u990a\u72b6\u614b\u306e\u6539\u5584\u3084\u5168\u4f53\u7684\u306a\u75c7\u72b6\u306e\u8efd\u6e1b\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>MEGDEL\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306f\u3001\u5e7c\u5150\u671f\u306e\u91cd\u75c7\u578b\u304b\u3089\u6210\u4eba\u671f\u306b\u898b\u3089\u308c\u308b\u8efd\u75c7\u578b\u307e\u3067\u3001\u5e45\u5e83\u3044\u75c7\u72b6\u3092\u793a\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u6975\u3081\u3066\u7a00\u3067\u3001\u63a8\u5b9a\u3055\u308c\u308b\u6709\u75c5\u7387\u306f10\u4e07\u4eba\u306b0.09\u4eba\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u75c7\u72b6\u304c\u8133\u6027\u9ebb\u75fa\u306b\u4f3c\u3066\u3044\u308b\u305f\u3081\u3001\u7279\u306bMRI\u3067\u306e\u7570\u5e38\u304c\u78ba\u8a8d\u3055\u308c\u306a\u3044\u5834\u5408\u3001\u8aa4\u8a3a\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u975e\u5178\u578b\u7684\u306a\u8133\u6027\u9ebb\u75fa\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306b\u306f\u3001\u5c3f\u4e2d\u6709\u6a5f\u9178\u5206\u6790\u3092\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001MEGDEL\u75c7\u5019\u7fa4\u3092\u6301\u3064\u60a3\u8005\u306e\u767a\u9054\u652f\u63f4\u306b\u306f\u3001\u9069\u5207\u306a\u65e9\u671f\u4ecb\u5165\u3084\u6559\u80b2\u652f\u63f4\u304c\u91cd\u8981\u3067\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u8a00\u8a9e\u7642\u6cd5\u3084\u7406\u5b66\u7642\u6cd5\u306a\u3069\u306e\u5c02\u9580\u7684\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306e\u63d0\u4f9b\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u500b\u3005\u306e\u60a3\u8005\u306e\u30cb\u30fc\u30ba\u306b\u5fdc\u3058\u305f\u30b1\u30a2\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u751f\u6d3b\u306e\u8cea\u3092\u6700\u5927\u9650\u306b\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u76ee\u6307\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=\"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%91%EF%BC%90_RSPH3%E3%80%80%E5%8E%9F%E7%99%BA%E6%80%A7%E7%B9%8A%E6%AF%9B%E9%81%8B%E5%8B%95%E9%9A%9C%E5%AE%B3_32%EF%BC%88Primary_Ciliary_Dyskinesia_32_CILD32%EF%BC%89\"><\/span>[\uff11\uff10_RSPH3]\u3000\u539f\u767a\u6027\u7e4a\u6bdb\u904b\u52d5\u969c\u5bb3 32\uff08Primary Ciliary Dyskinesia 32 (CILD32)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/516949fe09f224b341f9559284a6a0b5-1024x20.png\" alt=\"6q246q25\u3000\" class=\"wp-image-91575\" style=\"width:1024px;height:auto\"\/><\/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\/RSPH3-hgtIdeo_genome_3c2567_1aed10-1024x20.png\" alt=\"RSPH3 \" class=\"wp-image-91700\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u516832\u578b\uff08Ciliary Dyskinesia, Primary, 32\u3001\u7565\u79f0CILD32\uff09\u306f\u30016q25.3\u3068\u3044\u3046\u67d3\u8272\u4f53\u4e0a\u306eRSPH3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3001\u6975\u3081\u3066\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u300c\u30e9\u30b8\u30a2\u30eb\u30b9\u30dd\u30fc\u30af\u30d8\u30c3\u30c9\u30bf\u30f3\u30d1\u30af\u8cea3\uff08Radial Spoke Head Protein 3 Homolog\uff09\u300d\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7dda\u6bdb\u3084\u7cbe\u5b50\u306e\u904b\u52d5\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u7dda\u6bdb\u904b\u52d5\u306e\u305f\u3081\u306e\u300c\u8ef8\u7d22\u5185\u30e9\u30b8\u30a2\u30eb\u30b9\u30dd\u30fc\u30af\u8907\u5408\u4f53\u300d\u306e\u69cb\u6210\u8981\u7d20\u3067\u3042\u308a\u3001\u3055\u3089\u306bcAMP\u4f9d\u5b58\u6027\u30bf\u30f3\u30d1\u30af\u8cea\u30ad\u30ca\u30fc\u30bc\uff08PKA\uff09\u3092\u56fa\u5b9a\u3059\u308b\u8db3\u5834\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u3057\u3066\u3082\u6a5f\u80fd\u3057\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7dda\u6bdb\u5185\u3067MAPK\u3084PKA\u3068\u3044\u3063\u305f\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306e\u4ea4\u5dee\u70b9\u3068\u3057\u3066\u50cd\u304f\u53ef\u80fd\u6027\u3082\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\u306f\u3001\u7dda\u6bdb\u306e\u69cb\u9020\u7684\u7570\u5e38\u3084\u6a5f\u80fd\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001CILD32\u306e\u767a\u75c7\u306b\u81f3\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/932854_s.jpg\" alt=\"\u30ea\u30dc\u30f3\" class=\"wp-image-90521\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>CILD32\u306f\u3001\u7dda\u6bdb\u904b\u52d5\u306b\u6df1\u523b\u306a\u969c\u5bb3\u3092\u3082\u305f\u3089\u3059\u75be\u60a3\u3067\u3059\u3002\u7dda\u6bdb\u306f\u3001\u4f53\u5185\u306e\u591a\u304f\u306e\u5668\u5b98\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001\u547c\u5438\u5668\u5b98\u306e\u7c98\u6db2\u3084\u7570\u7269\u306e\u6392\u9664\u3001\u7cbe\u5b50\u306e\u904b\u52d5\u3001\u3055\u3089\u306b\u306f\u5973\u6027\u306e\u5375\u7ba1\u5185\u3067\u306e\u5375\u5b50\u306e\u79fb\u52d5\u306a\u3069\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u3067\u306f\u7dda\u6bdb\u304c\u9069\u5207\u306b\u6a5f\u80fd\u3057\u306a\u3044\u305f\u3081\u3001\u7279\u306b\u547c\u5438\u5668\u3084\u751f\u6b96\u5668\u306b\u3055\u307e\u3056\u307e\u306a\u554f\u984c\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3066\u3001\u547c\u5438\u5668\u306e\u6162\u6027\u708e\u75c7\u3084\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u65b0\u751f\u5150\u671f\u304b\u3089\u547c\u5438\u969c\u5bb3\u3092\u793a\u3059\u3053\u3068\u304c\u591a\u304f\u3001\u3053\u308c\u3092\u300c\u65b0\u751f\u5150\u547c\u5438\u7aae\u8feb\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3073\u307e\u3059\u3002\u9f3b\u8154\u3084\u6c17\u7ba1\u5185\u306b\u84c4\u7a4d\u3059\u308b\u7c98\u6db2\u3092\u9069\u5207\u306b\u9664\u53bb\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u6162\u6027\u7684\u306a\u611f\u67d3\u75c7\u304c\u7d9a\u304d\u3001\u3053\u308c\u304c\u80ba\u306e\u6a5f\u80fd\u3092\u5f90\u3005\u306b\u640d\u306a\u3046\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002\u7279\u306b\u6210\u4eba\u3067\u306f\u3001\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u304c\u307b\u307c\u3059\u3079\u3066\u306e\u60a3\u8005\u3067\u78ba\u8a8d\u3055\u308c\u3001\u80f8\u90e8CT\u691c\u67fb\u3067\u660e\u3089\u304b\u306b\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u6162\u6027\u306e\u54b3\u3084\u75f0\u306e\u7523\u751f\u3001\u7e70\u308a\u8fd4\u3055\u308c\u308b\u547c\u5438\u5668\u611f\u67d3\u75c7\u304c\u898b\u3089\u308c\u308b\u306e\u3082\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u6b96\u6a5f\u80fd\u306b\u3082\u5f71\u97ff\u304c\u53ca\u3073\u307e\u3059\u3002\u7537\u6027\u306e\u307b\u3068\u3093\u3069\u306f\u7cbe\u5b50\u904b\u52d5\u306e\u7570\u5e38\u306b\u3088\u308a\u4e0d\u598a\u75c7\u3068\u306a\u308a\u3001\u5973\u6027\u306e\u5834\u5408\u306f\u5375\u7ba1\u5185\u306e\u7dda\u6bdb\u6a5f\u80fd\u969c\u5bb3\u306b\u3088\u3063\u3066\u53d7\u80ce\u80fd\u529b\u304c\u4f4e\u4e0b\u3057\u3001\u3055\u3089\u306b\u5b50\u5bae\u5916\u598a\u5a20\u306e\u30ea\u30b9\u30af\u3082\u9ad8\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/29757163_s.jpg\" alt=\"\u7cbe\u5b50\" class=\"wp-image-91769\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>CILD32\u3067\u306f\u3001\u7dda\u6bdb\u904b\u52d5\u3092\u62c5\u3046\u300c9+2\u69cb\u9020\u300d\uff08\u7dda\u6bdb\u5185\u306e\u7279\u6709\u306e\u5fae\u7d30\u69cb\u9020\uff09\u306b\u7570\u5e38\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u3053\u306e\u75be\u60a3\u306b\u95a2\u9023\u3059\u308b\u5185\u81d3\u306e\u5de6\u53f3\u914d\u7f6e\u7570\u5e38\uff08\u30b7\u30c8\u30a5\u30b9\u7570\u5e38\uff09\u306f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3001\u4e21\u89aa\u304c\u305d\u308c\u305e\u308c\u5909\u7570\u907a\u4f1d\u5b50\u3092\u4fdd\u6301\u3057\u3066\u3044\u308b\u5834\u5408\u306b\u5b50\u4f9b\u304c\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306b\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u78ba\u8a8d\u3084\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u91cd\u8981\u3067\u3059\u3002\u4f8b\u3048\u3070\u3001\u9f3b\u8154\u4e00\u9178\u5316\u7a92\u7d20\u6fc3\u5ea6\u306e\u6e2c\u5b9a\u3084\u7dda\u6bdb\u306e\u8d85\u5fae\u7d30\u69cb\u9020\u306e\u89e3\u6790\u304c\u8a3a\u65ad\u306e\u52a9\u3051\u3068\u306a\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u307e\u3059\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u5909\u7570\u304c\u691c\u51fa\u3055\u308c\u306a\u3044\u5834\u5408\u3082\u3042\u308b\u305f\u3081\u3001\u591a\u89d2\u7684\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24474970_s.jpg\" alt=\"\u5b89\u5b9a\u306a\u6301\u3061\u65b9\" class=\"wp-image-87719\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6cbb\u7642\u6cd5\u3068\u3057\u3066\u306f\u3001\u75c7\u72b6\u306e\u7ba1\u7406\u3068\u5408\u4f75\u75c7\u306e\u4e88\u9632\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u547c\u5438\u5668\u306e\u7c98\u6db2\u9664\u53bb\u3092\u4fc3\u9032\u3059\u308b\u305f\u3081\u306e\u80f8\u90e8\u7406\u5b66\u7642\u6cd5\uff08\u4f8b\uff1a\u80f8\u90e8\u306e\u53e9\u6253\u3084\u4f53\u4f4d\u30c9\u30ec\u30ca\u30fc\u30b8\uff09\u3084\u3001\u611f\u67d3\u4e88\u9632\u306e\u305f\u3081\u306e\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u3001\u6297\u751f\u7269\u8cea\u306e\u4f7f\u7528\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u4e2d\u8033\u708e\u304c\u91cd\u75c7\u5316\u3059\u308b\u5834\u5408\u306b\u306f\u9f13\u819c\u30c1\u30e5\u30fc\u30d6\u306e\u633f\u5165\u304c\u6709\u52b9\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u8074\u899a\u969c\u5bb3\u304c\u9032\u884c\u3057\u305f\u5834\u5408\u306b\u306f\u88dc\u8074\u5668\u3084\u8a00\u8a9e\u7642\u6cd5\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e88\u9632\u7684\u306a\u63aa\u7f6e\u3068\u3057\u3066\u306f\u3001\u611f\u67d3\u75c7\u5bfe\u7b56\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u624b\u6d17\u3044\u3084\u611f\u67d3\u8005\u3068\u306e\u63a5\u89e6\u3092\u907f\u3051\u308b\u3053\u3068\u3001\u305d\u3057\u3066\u55ab\u7159\u3084\u5927\u6c17\u6c5a\u67d3\u306e\u56de\u907f\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u75c7\u72b6\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u305f\u3081\u306b\u5b9a\u671f\u7684\u306a\u691c\u67fb\u3084\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3092\u884c\u3046\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>CILD32\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u305d\u306e\u539f\u56e0\u3068\u306a\u308bRSPH3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3082\u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u65e9\u671f\u306e\u8a3a\u65ad\u3068\u9069\u5207\u306a\u7ba1\u7406\u306f\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u5411\u4e0a\u3055\u305b\u308b\u9375\u3068\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u306e\u7406\u89e3\u3092\u6df1\u3081\u308b\u3053\u3068\u306f\u3001\u4eca\u5f8c\u306e\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u3084\u60a3\u8005\u652f\u63f4\u306e\u6539\u5584\u306b\u3064\u306a\u304c\u308b\u3068\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=\"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\/NBK1122\/\">Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. 2007 Jan 24 [Updated 2019 Dec 5]. 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\/NBK1122\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK195853\/\">Wortmann SB, de Brouwer APM, Wevers RA, et al. SERAC1 Deficiency. 2014 Apr 17 [Updated 2020 Jul 23]. 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\/NBK195853\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK541502\/\">Vergano SA, van der Sluijs PJ, Santen G. ARID1B-Related Disorder. 2019 May 23. 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\/NBK541502\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1379\/\">Beaudin M, Gamache PL, Gros-Louis F, et al. SYNE1 Deficiency. 2007 Feb 23 [Updated 2018 Dec 6]. 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\/NBK1379\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s12311-023-01617-2\">Cesaroni, C. A., Pisan\u00f2, G., Trimarchi, G., Caraffi, S. G., Scandolo, G., Gnazzo, M., Frattini, D., Spagnoli, C., Rizzi, S., Dittadi, C., Sigona, G., Garavelli, L., &amp; Fusco, C. (2024). Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1. <em>Cerebellum (London, England)<\/em>, <em>23<\/em>(5), 1768\u20131771. https:\/\/doi.org\/10.1007\/s12311-023-01617-2<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1138\/\">Perlman S. Hereditary Ataxia Overview. 1998 Oct 28 [Updated 2024 Sep 12]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1138\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1389\/\">Minassian B. Progressive Myoclonus Epilepsy, Lafora Type. 2007 Dec 28 [Updated 2025 Jan 23]. 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\/NBK1389\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1444\/\">Zhang K, Astigarraga I, Bryceson Y, et al. Familial Hemophagocytic Lymphohistiocytosis. 2006 Mar 22 [Updated 2024 Jun 6]. 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\/NBK1444\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1534\/\">Temple IK, Mackay DJG. Diabetes Mellitus, 6q24-Related Transient Neonatal. 2005 Oct 10 [Updated 2018 Sep 13]. 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\/NBK1534\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1448\/\">Steinberg SJ, Raymond GV, Braverman NE, et al. Zellweger Spectrum Disorder. 2003 Dec 12 [Updated 2020 Oct 29]. 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\/NBK1448\/<\/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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