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class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>TWNK<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4\uff08MDS\uff09\u306f\u3001<strong>\u7d44\u7e54\u4e2d\u306emtDNA\u30b3\u30d4\u30fc\u6570\u304c\u5bfe\u7167\u306e30%\u672a\u6e80\u306b\u4f4e\u4e0b\u3059\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u306emtDNA\u7dad\u6301\u7570\u5e38\u75c7\u7fa4<\/strong>\u3067\u3042\u308b\u3002\u75c5\u614b\u306f\u5927\u304d\u304f\u3001<strong>\u2460\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u30c7\u30aa\u30ad\u30b7\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u30d7\u30fc\u30eb\uff08dNTP\uff09\u306e\u4e0d\u5747\u8861\uff08TK2\u3001DGUOK\u3001RRM2B\u3001SUCLA2\u3001SUCLG1\u3001TYMP\uff09<\/strong>\u3068\u3001<strong>\u2461\u30ec\u30d7\u30ea\u30bd\u30fc\u30e0\u6a5f\u80fd\u306e\u7570\u5e38\uff08POLG\u3001TWNK\u3001MGME1\u3001DNA2\uff09<\/strong>\u306b\u5206\u3051\u3089\u308c\u3001FBXL4\u306e\u3088\u3046\u306b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u52d5\u614b\u306e\u7570\u5e38\u3092\u4ecb\u3059\u308b\u3082\u306e\u3082\u542b\u307e\u308c\u308b\u3002\u81e8\u5e8a\u578b\u306f\u7b4b\u578b\u3001\u8133\u7b4b\u578b\u3001\u809d\u8133\u578b\u3001\u795e\u7d4c\u6d88\u5316\u7ba1\u578b\uff08MNGIE\uff09\u306b\u5927\u5225\u3055\u308c\u308b\u3002<\/p>\n\n\n<p><strong>TWNK<\/strong>\uff08\u65e7C10orf2\/PEO1\u300110q24.31\uff09\u306fmtDNA\u8907\u88fd\u30d5\u30a9\u30fc\u30af\u306e\u30d8\u30ea\u30ab\u30fc\u30bc\u3067\u3001POLG\u3068\u3068\u3082\u306b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30ec\u30d7\u30ea\u30bd\u30fc\u30e0\u3092\u69cb\u6210\u3059\u308b\u3002<strong>\u4e21\u30a2\u30ec\u30eb\u6027\u5909\u7570\u306fmtDNA\u67af\u6e07\u75c7\u5019\u7fa47\u578b\uff08\u809d\u8133\u578b\uff0fIOSCA\uff09\u3092\u3001\u30d8\u30c6\u30ed\u63a5\u5408\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u306e\u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa\uff08adPEO\uff09\u3092\u751f\u3058\u308b<\/strong>\u3068\u3044\u3046\u3001\u907a\u4f1d\u5f62\u5f0f\u306e\u7570\u306a\u308b2\u3064\u306e\u75be\u60a3\u3092\u3082\u3064\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3002\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u5275\u59cb\u8005\u5909\u7570Y508C\u306b\u3088\u308b<strong>IOSCA\u3067\u306f\u3001\u3066\u3093\u304b\u3093\u91cd\u7a4d\u30fb\u809d\u4e0d\u5168\u30fb\u5973\u6027\u306e\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b<\/strong>\u304c\u7d4c\u904e\u4e2d\u306b\u52a0\u308f\u308b\u3002<strong>\u672c\u75be\u60a3\u3067\u306f\u30d0\u30eb\u30d7\u30ed\u9178\u306b\u3088\u308a\u81f4\u6b7b\u7684\u809d\u4e0d\u5168\u3092\u6765\u3057\u3046\u308b\u305f\u3081\u3001\u7981\u5fcc\u306b\u6e96\u3058\u3066\u6271\u3046\u3002<\/strong><\/p>\n\n\n<p>\u9451\u5225\u3068\u3057\u3066\u306f\u3001POLG\u95a2\u9023\u75be\u60a3\uff08Alpers-Huttenlocher\u75c7\u5019\u7fa4\uff09\u3001\u30d4\u30eb\u30d3\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u8907\u5408\u4f53\u6b20\u640d\u75c7\u3001\u547c\u5438\u9396\u8907\u5408\u4f53\u306e\u5358\u72ec\u6b20\u640d\u3001\u6709\u6a5f\u9178\u8840\u75c7\u30fb\u8102\u80aa\u9178\u4ee3\u8b1d\u7570\u5e38\u75c7\u304c\u6319\u304c\u308b\u3002<strong>mtDNA\u30b3\u30d4\u30fc\u6570\u306e\u6e2c\u5b9a\u306f\u7d44\u7e54\u4f9d\u5b58\u6027\u304c\u9ad8\u304f\u3001\u8840\u6db2\u3067\u6b63\u5e38\u3067\u3082\u7b4b\u30fb\u809d\u3067\u8457\u6e1b\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308b<\/strong>\u305f\u3081\u3001\u81e8\u5e8a\u7684\u306b\u7591\u308f\u3057\u3051\u308c\u3070\u7f79\u60a3\u7d44\u7e54\u3067\u306e\u8a55\u4fa1\u3092\u691c\u8a0e\u3059\u308b\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4\u5168\u4f53\u3067\u3082\u975e\u5e38\u306b\u307e\u308c\u3067\u3001\u51fa\u751f10\u4e07\u4eba\u3042\u305f\u308a\u6570\u4eba\u4ee5\u4e0b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u306a\u304b\u3067\u500b\u3005\u306e\u907a\u4f1d\u5b50\u306b\u3088\u308b\u578b\u306f\u3001\u3055\u3089\u306b\u307e\u308c\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u306f\u6bcd\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p>A. \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u305d\u306e\u3082\u306e\u306e\u5909\u5316\u306b\u3088\u308b\u75c5\u6c17\u306f\u3001\u304a\u6bcd\u3055\u307e\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002\u3057\u304b\u3057<strong>\u3053\u306e\u75c5\u6c17\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u3092\u7dad\u6301\u3059\u308b\u305f\u3081\u306e\u300c\u6838\u300d\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0<\/strong>\u3067\u3001\u304a\u7236\u3055\u307e\u30fb\u304a\u6bcd\u3055\u307e\u306e\u4e21\u65b9\u304b\u3089\u53d7\u3051\u7d99\u3050\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002\u3053\u3053\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u4f53\u8abf\u3092\u304f\u305a\u3057\u305f\u3068\u304d\u3001\u3069\u3046\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u767a\u71b1\u3084\u4e0b\u75e2\u3067\u98df\u4e8b\u304c\u3068\u308c\u306a\u3044\u3068\u304d\u306f\u3001\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u70b9\u6ef4\u3067\u30d6\u30c9\u30a6\u7cd6\u3068\u6c34\u5206\u3092\u88dc\u3046\u3053\u3068\u3067\u3001\u6025\u306a\u60aa\u5316\u3092\u9632\u3052\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u304b\u304b\u308a\u3064\u3051\u533b\u306b\u75c5\u540d\u3068\u6ce8\u610f\u70b9\u3092\u66f8\u3044\u305f\u60c5\u5831\u63d0\u4f9b\u66f8\u3092\u7528\u610f\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3051\u3044\u308c\u3093\u306e\u85ac\u3067\u6ce8\u610f\u3059\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u3068\u3044\u3046\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u3063\u3066\u91cd\u3044\u809d\u969c\u5bb3\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u53d7\u8a3a\u6642\u306b\u306f\u5fc5\u305a\u75c5\u540d\u3092\u304a\u4f1d\u3048\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u6b63\u78ba\u306a\u898b\u901a\u3057\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>El-Hattab AW, Craigen WJ, Scaglia F. Mitochondrial DNA maintenance defects. <em>Biochim Biophys Acta Mol Basis Dis<\/em>. 2017;1863(6):1539-1555.<\/li>\n\n\n\n<li>Viscomi C, Zeviani M. MtDNA-maintenance defects: syndromes and genes. <em>J Inherit Metab Dis<\/em>. 2017;40(4):587-599.<\/li>\n\n\n\n<li>Rahman S, Copeland WC. POLG-related disorders and their neurological manifestations. <em>Nat Rev Neurol<\/em>. 2019;15(1):40-52.<\/li>\n\n\n\n<li>Hakonen AH, Isohanni P, Paetau A, et al. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. <em>Brain<\/em>. 2007;130(Pt 11):3032-3040.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136936","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136936","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136936\/revisions"}],"predecessor-version":[{"id":137254,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136936\/revisions\/137254"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136936"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}