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class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001<strong>\u5fc3\u81d3\u306e\u72b6\u614b\u3092\u3053\u307e\u3081\u306b\u78ba\u8a8d\u3057\u3001\u5fc3\u4e0d\u5168\u3084\u4e0d\u6574\u8108\u3092\u65e9\u3081\u306b\u6cbb\u7642\u3059\u308b\u3053\u3068<\/strong>\u3067\u3059\u3002\u5c0f\u5150\u5faa\u74b0\u5668\u3001\u795e\u7d4c\u3001\u6ccc\u5c3f\u5668\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306a\u3069\u3001\u8907\u6570\u306e\u8a3a\u7642\u79d1\u304c\u5354\u529b\u3057\u3066\u652f\u3048\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u4e0d\u5168\u306e\u6cbb\u7642<\/strong>\uff1a\u5fc3\u81d3\u306e\u8ca0\u62c5\u3092\u6e1b\u3089\u3059\u85ac\u3084\u3001\u4f53\u306b\u305f\u307e\u3063\u305f\u6c34\u5206\u3092\u6e1b\u3089\u3059\u85ac\uff08\u5229\u5c3f\u85ac\uff09\u306a\u3069\u3092\u4f7f\u3044\u307e\u3059\u3002\u91cd\u3044\u5834\u5408\u306f\u5fc3\u81d3\u79fb\u690d\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u5fc3\u81d3\u306e\u691c\u67fb<\/strong>\uff1a\u5fc3\u30a8\u30b3\u30fc\u3084\u5fc3\u96fb\u56f3\u3067\u3001\u5fc3\u81d3\u306e\u306f\u305f\u3089\u304d\u3084\u4e0d\u6574\u8108\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u5931\u8abf\u3078\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u3084\u4f5c\u696d\u7642\u6cd5\u3067\u3001\u6b69\u304f\u3053\u3068\u3084\u65e5\u5e38\u306e\u52d5\u4f5c\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6804\u990a\u3068\u6210\u9577\u306e\u652f\u63f4<\/strong>\uff1a\u4f53\u91cd\u306e\u5897\u3048\u65b9\u3092\u898b\u306a\u304c\u3089\u3001\u98df\u4e8b\u3084\u6804\u990a\u306e\u5de5\u592b\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6027\u5668\u306e\u7570\u5e38\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u505c\u7559\u7cbe\u5de3\u306a\u3069\u306f\u6ccc\u5c3f\u5668\u79d1\u3067\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u652f\u63f4\u3068\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4<\/strong><\/li>\n\n\n<\/ul>\n\n\n<p class=\"wp-block-paragraph\">\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u306f\u305f\u3089\u304d\u3092\u52a9\u3051\u308b\u65b0\u3057\u3044\u85ac\u306e\u7814\u7a76\u3082\u884c\u308f\u308c\u3066\u3044\u307e\u3059\u304c\u3001<strong>\u307e\u3060\u7814\u7a76\u306e\u6bb5\u968e\u3067\u3042\u308a\u3001\u52b9\u679c\u306f\u78ba\u304b\u3081\u3089\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>DNAJC19<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 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 class=\"wp-block-paragraph\">\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>DNAJC19<\/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<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u305f\u3081\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>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \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 class=\"wp-block-paragraph\"><strong>DNAJC19<\/strong> \u306f J \u30c9\u30e1\u30a4\u30f3\u3092\u3082\u3064\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u819c\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3001\u9175\u6bcd\u306e\u5185\u819c\u8f38\u9001\u7cfb\u30b3\u30b7\u30e3\u30da\u30ed\u30f3 Tim14\uff08Pam18\uff09\u306e\u30d2\u30c8\u76f8\u540c\u907a\u4f1d\u5b50\u3068\u3057\u3066\u540c\u5b9a\u3055\u308c\u305f\u3002\u305d\u306e\u5f8c\u3001<strong>\u30d7\u30ed\u30d2\u30d3\u30c1\u30f3\uff08PHB\/PHB2\uff09\u3068\u8907\u5408\u4f53\u3092\u5f62\u6210\u3057\u3001\u30ab\u30eb\u30b8\u30aa\u30ea\u30d4\u30f3\u306e\u30a2\u30b7\u30eb\u9396\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u3092\u8abf\u7bc0\u3059\u308b<\/strong>\u3053\u3068\u304c\u793a\u3055\u308c\u3001\u6b20\u640d\u3067\u306f\u30ab\u30eb\u30b8\u30aa\u30ea\u30d4\u30f3\u306e\u30a2\u30b7\u30eb\u9396\u7d44\u6210\u306b\u5909\u5316\u304c\u751f\u3058\u308b\u3002<strong>\u30ab\u30eb\u30b8\u30aa\u30ea\u30d4\u30f3\u4ee3\u8b1d\u7570\u5e38\u3068\u3044\u3046\u70b9\u3067\u3001\u30bf\u30d5\u30a1\u30b8\u30f3\uff08<em>TAZ<\/em>\uff09\u6b20\u640d\u306b\u3088\u308b\u30d0\u30fc\u30b9\u75c7\u5019\u7fa4\u3068\u75c5\u614b\u304c\u91cd\u306a\u308b<\/strong>\u30023-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u306e\u4e0a\u6607\u306f\u30ed\u30a4\u30b7\u30f3\u7570\u5316\u7d4c\u8def\u306e\u4e00\u6b21\u7684\u306a\u9175\u7d20\u6b20\u640d\u306b\u3088\u308b\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u969c\u5bb3\u306b\u4f34\u3046\u4e8c\u6b21\u7684\u306a\u6240\u898b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u672c\u75c7\u306f\u30ab\u30ca\u30c0\u30fb\u30a2\u30eb\u30d0\u30fc\u30bf\u5dde\u306e\u30c0\u30ea\u30a6\u30b9\u30ed\u30a4\u30c8\u7cfb\u30d5\u30c3\u30bf\u30fc\u6d3e\u3067\u6700\u521d\u306b\u5831\u544a\u3055\u308c\u3001\u540c\u96c6\u56e3\u3067\u306f\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u306e\u5275\u59cb\u8005\u5909\u7570\uff08c.130-1G&gt;C\u3001IVS3-1G&gt;C\uff09\u304c\u5171\u6709\u3055\u308c\u3066\u3044\u308b<\/strong>\u3002\u8868\u73fe\u578b\u306f<strong>\u65e9\u671f\u767a\u75c7\u306e\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08QT\u5ef6\u9577\u306a\u3069\u306e\u4f1d\u5c0e\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b\uff09\u3001\u975e\u9032\u884c\u6027\u5c0f\u8133\u6027\u904b\u52d5\u5931\u8abf\u3001\u6210\u9577\u969c\u5bb3\u3001\u7537\u5150\u306e\u7cbe\u5de3\u5f62\u6210\u4e0d\u5168\u30fb\u505c\u7559\u7cbe\u5de3\u30fb\u5c3f\u9053\u4e0b\u88c2<\/strong>\u3092\u4e2d\u6838\u3068\u3057\u3001\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u306e\u5bb6\u7cfb\u3067\u306f\u5de6\u5ba4\u7dfb\u5bc6\u5316\u969c\u5bb3\u3001\u8ca7\u8840\u3092\u4f34\u3046\u4f8b\u3082\u5831\u544a\u3055\u308c\u305f\u3002\u5fc3\u4e0d\u5168\u306b\u3088\u308b\u65e9\u671f\u6b7b\u4ea1\u304c\u591a\u3044\u4e00\u65b9\u3001\u6210\u4eba\u751f\u5b58\u4f8b\u3082\u3042\u308a\u3001<strong>\u540c\u4e00\u5909\u7570\u3092\u3082\u3064\u540c\u80de\u9593\u3067\u3082\u91cd\u75c7\u5ea6\u306b\u5e45\u304c\u3042\u308b<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7\u306f\u5f93\u67651\u301c5\u578b\u306b\u756a\u53f7\u5206\u985e\u3055\u308c\u3066\u304d\u305f\u304c\u3001\u73fe\u5728\u306f\u75c5\u614b\u306b\u57fa\u3065\u304f\u5206\u985e\u304c\u63d0\u5531\u3055\u308c\u3066\u3044\u308b\u3002<strong>1\u578b\uff08<em>AUH<\/em>\u3001\u30ed\u30a4\u30b7\u30f3\u7570\u5316\u306e\u4e00\u6b21\u7684\u9175\u7d20\u6b20\u640d\uff09\u306e\u307f\u304c\u300c\u4e00\u6b21\u6027\u300d\u3067\u30012\u578b\u30d0\u30fc\u30b9\u75c7\u5019\u7fa4\uff08<em>TAZ<\/em>\u3001X\u9023\u9396\u6f5c\u6027\uff09\u30013\u578b\u30b3\u30b9\u30c6\u30d5\u75c7\u5019\u7fa4\uff08<em>OPA3<\/em>\u3001\u8996\u795e\u7d4c\u840e\u7e2e\u3068\u9310\u4f53\u5916\u8def\u75c7\u72b6\uff09\u30015\u578b\uff08<em>DNAJC19<\/em>\uff09\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u819c\u306e\u7570\u5e38\u306b\u3088\u308b\u300c\u4e8c\u6b21\u6027\u300d\u306b\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u308b<\/strong>\u3002\u307b\u304b\u306b <em>SERAC1<\/em>\uff08MEGD(H)EL\u75c7\u5019\u7fa4\uff09\u3001<em>TMEM70<\/em>\u3001<em>CLPB<\/em> \u306a\u3069\u3082\u540c\u69d8\u306e\u5c3f\u6240\u898b\u3092\u793a\u3059\u3002<strong>\u3068\u304f\u306b\u30d0\u30fc\u30b9\u75c7\u5019\u7fa4\u3068\u306f\u5fc3\u7b4b\u75c7\u30fb\u6210\u9577\u969c\u5bb3\u304c\u5171\u901a\u3059\u308b\u304c\u3001\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308a\u5973\u5150\u3082\u767a\u75c7\u3057\u3046\u308b\u70b9\u3001\u904b\u52d5\u5931\u8abf\u3068\u7537\u5150\u6027\u5668\u7570\u5e38\u3092\u4f34\u3046\u70b9\u3067\u533a\u5225\u3055\u308c\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong><\/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. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\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<\/strong>\u7537\u306e\u5b50\u3067\u3082\u5973\u306e\u5b50\u3067\u3082\u540c\u3058\u78ba\u7387\u3067\u3059\u3002\u75c7\u72b6\u306e\u4f3c\u3066\u3044\u308b\u75c5\u6c17\u306b\u306f\u907a\u4f1d\u5f62\u5f0f\u306e\u7570\u306a\u308b\u3082\u306e\u3082\u3042\u308b\u305f\u3081\u3001<strong>\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u3063\u304d\u308a\u3057\u305f\u7570\u5e38\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u751f\u307e\u308c\u305f\u3042\u3068\u306b\u5fc3\u81d3\u306e\u75c5\u6c17\u3084\u3075\u3089\u3064\u304d\u304b\u3089\u6c17\u3065\u304b\u308c\u308b\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u524d\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u30d0\u30fc\u30b9\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u3069\u3061\u3089\u3082\u5fc3\u7b4b\u75c7\u3068\u6210\u9577\u306e\u9045\u308c\u304c\u307f\u3089\u308c\u3001\u5c3f\u306b3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u304c\u591a\u304f\u51fa\u308b\u70b9\u306f\u4f3c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001<strong>\u30d0\u30fc\u30b9\u75c7\u5019\u7fa4\uff082\u578b\uff09\u306f TAZ \u907a\u4f1d\u5b50\u306b\u3088\u308bX\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u306e\u75c5\u6c17\u3067\u3001\u4e3b\u306b\u7537\u306e\u5b50\u304c\u767a\u75c7\u3057\u307e\u3059\u30025\u578b\u306f DNAJC19 \u907a\u4f1d\u5b50\u306b\u3088\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3001\u7537\u5973\u3069\u3061\u3089\u3082\u767a\u75c7\u3057\u3001\u3075\u3089\u3064\u304d\u3092\u4f34\u3046\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u308b\u307e\u3067\u904e\u3054\u305b\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u5fc3\u81d3\u306e\u75c5\u6c17\u306e\u91cd\u3055\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u91cd\u3044\u5fc3\u4e0d\u5168\u306e\u305f\u3081\u306b\u5e7c\u3044\u3046\u3061\u306b\u4ea1\u304f\u306a\u308b\u304a\u5b50\u3055\u307e\u3082\u3044\u308b\u4e00\u65b9\u3067\u3001\u6210\u4eba\u307e\u3067\u904e\u3054\u3055\u308c\u3066\u3044\u308b\u65b9\u3082\u3044\u307e\u3059\u3002<strong>\u5fc3\u81d3\u306e\u72b6\u614b\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u3001\u65e9\u3081\u306b\u6cbb\u7642\u3092\u59cb\u3081\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong>\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u306f\u3001\u62c5\u5f53\u306e\u533b\u7642\u30c1\u30fc\u30e0\u3068\u3088\u304f\u8a71\u3057\u5408\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\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>Davey KM, Parboosingh JS, McLeod DR, et al. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. <em>J Med Genet<\/em>. 2006;43(5):385-393.<\/li>\n\n\n\n<li>Ojala T, Polinati P, Manninen T, et al. New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. <em>Pediatr Res<\/em>. 2012;72(4):432-437.<\/li>\n\n\n\n<li>Richter-Dennerlein R, Korwitz A, Haag M, et al. DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling. <em>Cell Metab<\/em>. 2014;20(1):158-171.<\/li>\n\n\n\n<li>Wortmann SB, Duran M, Anikster Y, et al. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. <em>J Inherit Metab Dis<\/em>. 2013;36(6):923-928.<\/li>\n\n\n\n<li>OMIM #610198 3-Methylglutaconic aciduria, type V. Online Mendelian Inheritance in Man.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147566","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\/147566","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":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147566\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147566"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}