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class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u30d6\u30eb\u30c3\u30af\u75c7\u5019\u7fa41\u578b\u3067\u306f <strong>FKBP10<\/strong> \u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>\u95a2\u7bc0\u62d8\u7e2e\u3092\u3068\u3082\u306a\u3046\u75c5\u6c17\u3084\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u306b\u306f\u3055\u307e\u3056\u307e\u306a\u539f\u56e0\u3068\u907a\u4f1d\u5f62\u5f0f\u304c\u3042\u308a\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3059\u308b\u305f\u3081\u306b\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306b\u306f\u5927\u304d\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u9aa8\u6298\u3092\u6e1b\u3089\u3057\u3001\u95a2\u7bc0\u306e\u52d5\u304d\u3068\u751f\u6d3b\u306e\u8cea\u3092\u3067\u304d\u308b\u3060\u3051\u4fdd\u3064\u3053\u3068\u3092\u76ee\u6a19\u306b\u3001<strong>\u6574\u5f62\u5916\u79d1\u30fb\u5c0f\u5150\u79d1\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\u306a\u3069\u304c\u5354\u529b\u3057\u3066\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u3092\u5f37\u304f\u3059\u308b\u85ac\uff08\u30d3\u30b9\u30db\u30b9\u30db\u30cd\u30fc\u30c8\u88fd\u5264\u306a\u3069\uff09<\/strong>\uff1a\u9aa8\u5bc6\u5ea6\u3092\u9ad8\u3081\u3001\u9aa8\u6298\u306e\u56de\u6570\u3092\u6e1b\u3089\u3059\u52b9\u679c\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002\u52b9\u679c\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong>\uff1a\u9aa8\u6298\u306e\u6cbb\u7642\u3001\u9aa8\u306e\u5909\u5f62\u306e\u77ef\u6b63\u3001\u9aa8\u306e\u4e2d\u306b\u91d1\u5c5e\u306e\u68d2\u3092\u5165\u308c\u308b\u624b\u8853\u3001\u5074\u5f2f\u3078\u306e\u5bfe\u5fdc\u306a\u3069\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u95a2\u7bc0\u306e\u52d5\u304f\u7bc4\u56f2\u3092\u4fdd\u3061\u3001\u7b4b\u529b\u3092\u7dad\u6301\u3059\u308b\u305f\u3081\u306e\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5<\/li>\n\n\n\n<li><strong>\u88c5\u5177\u30fb\u8eca\u3044\u3059\u306a\u3069\u306e\u88dc\u52a9\u5177<\/strong>\uff1a\u9aa8\u6298\u3092\u9632\u304e\u306a\u304c\u3089\u3001\u79fb\u52d5\u3084\u65e5\u5e38\u751f\u6d3b\u3092\u52a9\u3051\u307e\u3059<\/li>\n\n\n\n<li><strong>\u65e5\u5e38\u751f\u6d3b\u306e\u5de5\u592b\u3068\u5b66\u6821\u30fb\u5730\u57df\u3067\u306e\u652f\u63f4<\/strong>\uff1a\u62b1\u3063\u3053\u3084\u7740\u66ff\u3048\u306e\u3057\u304b\u305f\u3001\u5b89\u5168\u306a\u904a\u3073\u65b9\u306a\u3069\u3092\u3054\u5bb6\u65cf\u3068\u4e00\u7dd2\u306b\u8003\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/li>\n\n\n<\/ul>\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>FKBP10<\/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>FKBP10<\/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\">\u30d6\u30eb\u30c3\u30af\u75c7\u5019\u7fa41\u578b\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u3067\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>FKBP10<\/strong> \u304c\u30b3\u30fc\u30c9\u3059\u308b <strong>FKBP65<\/strong> \u306f\u3001\u7c97\u9762\u5c0f\u80de\u4f53\u306b\u5c40\u5728\u3059\u308b\u30da\u30d7\u30c1\u30b8\u30eb\u30d7\u30ed\u30ea\u30eb\u30a4\u30bd\u30e1\u30e9\u30fc\u30bc\uff08FKBP \u30d5\u30a1\u30df\u30ea\u30fc\uff09\u3067\u3001<strong>\u2160\u578b\u30d7\u30ed\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u5206\u5b50\u30b7\u30e3\u30da\u30ed\u30f3<\/strong>\u3068\u3057\u3066\u306f\u305f\u3089\u304f\u3002FKBP65 \u306f<strong>\u30ea\u30b7\u30eb\u30d2\u30c9\u30ed\u30ad\u30b7\u30e9\u30fc\u30bc2\uff08LH2\u3001<em>PLOD2<\/em> \u306e\u7523\u7269\uff09\u3068\u5354\u8abf\u3057\u3001\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u30c6\u30ed\u30da\u30d7\u30c1\u30c9\u9818\u57df\u306e\u30ea\u30b7\u30f3\u6c34\u9178\u5316\u306b\u5fc5\u8981<\/strong>\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u308b\u3002FKBP10 \u6b20\u640d\u3067\u306f<strong>\u9aa8\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u30c6\u30ed\u30da\u30d7\u30c1\u30c9\u30ea\u30b7\u30f3\u6c34\u9178\u5316\u304c\u4f4e\u4e0b\u3057\u3001\u30d2\u30c9\u30ed\u30ad\u30b7\u30ea\u30b7\u30f3\u7531\u6765\u306e\u6210\u719f\u67b6\u6a4b\u304c\u6e1b\u5c11<\/strong>\u3059\u308b\u3002<strong>\u30d6\u30eb\u30c3\u30af\u75c7\u5019\u7fa42\u578b\uff08<em>PLOD2<\/em>\uff09\u3068\u540c\u4e00\u306e\u751f\u5316\u5b66\u7684\u7d4c\u8def\u306e\u969c\u5bb3\u3067\u3042\u308b\u3053\u3068\u304c\u3001\u4e21\u8005\u306e\u81e8\u5e8a\u50cf\u306e\u985e\u4f3c\u3092\u8aac\u660e\u3059\u308b<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>FKBP10 \u95a2\u9023\u75be\u60a3\u306f\u8868\u73fe\u578b\u306e\u9023\u7d9a\u4f53\uff08\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff09\u3092\u5f62\u6210\u3059\u308b<\/strong>\u2014\u2014<strong>\u2460\u95a2\u7bc0\u62d8\u7e2e\u3092\u3068\u3082\u306a\u308f\u306a\u3044\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\uff08OI XI\u578b\uff09\u3001\u2461\u5148\u5929\u6027\u95a2\u7bc0\u62d8\u7e2e\u30fb\u7ffc\u72b6\u7247\u3068\u9aa8\u8106\u5f31\u6027\u3092\u4f75\u305b\u3082\u3064\u30d6\u30eb\u30c3\u30af\u75c7\u5019\u7fa41\u578b\u3001\u2462\u9aa8\u8106\u5f31\u6027\u304c\u8efd\u304f\u95a2\u7bc0\u62d8\u7e2e\u304c\u4e3b\u4f53\u3068\u306a\u308b\u8868\u73fe\u578b\uff08\u30a2\u30e9\u30b9\u30ab\u5148\u4f4f\u6c11\u3067\u5831\u544a\u3055\u308c\u305f\u30af\u30b9\u30b3\u30af\u30a6\u30a3\u30e0\u75c7\u5019\u7fa4\uff09<\/strong>\u3067\u3042\u308b\u3002\u591a\u304f\u306f\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u3067\u3001<strong>\u540c\u4e00\u306e\u5909\u7570\u3067\u3082\u5bb6\u7cfb\u306b\u3088\u3063\u3066\u95a2\u7bc0\u62d8\u7e2e\u306e\u6709\u7121\u304c\u7570\u306a\u308b\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u907a\u4f1d\u5b50\u578b\u304b\u3089\u8868\u73fe\u578b\u3092\u78ba\u5b9f\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u306f\u96e3\u3057\u3044<\/strong>\u3002\u30d7\u30ed\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u5206\u6ccc\u306f\u9045\u5ef6\u3059\u308b\u304c\u3001<em>COL1A1\/COL1A2<\/em> \u5909\u7570\u578b\u3067\u307f\u3089\u308c\u308b\u904e\u5270\u4fee\u98fe\u306f\u76ee\u7acb\u305f\u306a\u3044\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30d6\u30eb\u30c3\u30af\u75c7\u5019\u7fa42\u578b\uff08<em>PLOD2<\/em>\uff09\u3001<em>COL1A1\/COL1A2<\/em> \u306b\u3088\u308b\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\uff08\u591a\u304f\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\u3082\u591a\u3044\uff09\u3001\u305d\u306e\u4ed6\u306e\u6f5c\u6027\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\uff08<em>SERPINF1<\/em>\u3001<em>CRTAP<\/em>\u3001<em>P3H1<\/em> \u306a\u3069\uff09\u3001\u5148\u5929\u6027\u591a\u767a\u6027\u95a2\u7bc0\u62d8\u7e2e\u75c7\u3092\u304d\u305f\u3059\u8af8\u75be\u60a3\u304c\u6319\u304c\u308b\u3002<strong>\u3053\u308c\u3089\u306f\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308a\u3001\u6b21\u5b50\u518d\u767a\u7387\u304c25%\uff08\u6f5c\u6027\uff09\u304b\u3089\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u9855\u6027\u3067\u306f\u3054\u304f\u308f\u305a\u304b\u307e\u3067\u5927\u304d\u304f\u9055\u3046\u305f\u3081\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>\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u306e\u591a\u304f\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u3067\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u3063\u3066\u5076\u767a\u7684\u306b\u8d77\u3053\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306e\u518d\u767a\u7387\u306f\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<strong>\u6b63\u3057\u3044\u898b\u901a\u3057\u306e\u305f\u3081\u306b\u3001\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>\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u95a2\u7bc0\u306e\u52d5\u304d\u306e\u5c11\u306a\u3055\u3084\u5185\u53cd\u8db3\u304c\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u3060\u3051\u3067\u3053\u306e\u75c5\u6c17\u3068\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\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\u598a\u5a20\u4e2d\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. \u30d6\u30eb\u30c3\u30af\u75c7\u5019\u7fa41\u578b\u30682\u578b\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u75c7\u72b6\u306f\u3088\u304f\u4f3c\u3066\u3044\u3066\u3001\u898b\u305f\u76ee\u3060\u3051\u3067\u533a\u5225\u3059\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3067\u304d\u307e\u305b\u3093\u3002<\/strong>\u9055\u3044\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3001<strong>1\u578b\u306f FKBP10\u30012\u578b\u306f PLOD2<\/strong> \u3067\u3059\u3002\u3069\u3061\u3089\u3082\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u304c\u3001\u3054\u5bb6\u65cf\u306e\u691c\u67fb\u3067\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u5fc5\u8981\u304c\u3042\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u533a\u5225\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u308b\u307e\u3067\u751f\u6d3b\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u9aa8\u6298\u3084\u5909\u5f62\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u6210\u4eba\u3057\u3066\u751f\u6d3b\u3055\u308c\u3066\u3044\u308b\u65b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u77e5\u7684\u306a\u767a\u9054\u306f\u901a\u5e38\u4fdd\u305f\u308c\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u304f\u308a\u8fd4\u3059\u9aa8\u6298\u3084\u80cc\u9aa8\u306e\u5909\u5f62\u306b\u3088\u3063\u3066\u79fb\u52d5\u306b\u8eca\u3044\u3059\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001<strong>\u65e9\u3044\u6642\u671f\u304b\u3089\u9aa8\u306e\u6cbb\u7642\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u7d9a\u3051\u3001\u751f\u6d3b\u3092\u652f\u3048\u308b\u4f53\u5236\u3092\u6574\u3048\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/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>OMIM #259450 Bruck syndrome 1; BRKS1. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Alanay Y, Avaygan H, Camacho N, et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. <em>Am J Hum Genet<\/em>. 2010;86(4):551-559.<\/li>\n\n\n\n<li>Kelley BP, Malfait F, Bonafe L, et al. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. <em>J Bone Miner Res<\/em>. 2011;26(3):666-672.<\/li>\n\n\n\n<li>Shaheen R, Al-Owain M, Faqeih E, et al. Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. <em>Am J Med Genet A<\/em>. 2011;155A(6):1448-1452.<\/li>\n\n\n\n<li>Schwarze U, Cundy T, Pyott SM, et al. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. <em>Hum Mol Genet<\/em>. 2013;22(1):1-17.<\/li>\n\n\n\n<li>Marini JC, Forlino A, B\u00e4chinger HP, et al. Osteogenesis imperfecta. <em>Nat Rev Dis Primers<\/em>. 2017;3:17052.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147741","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\/147741","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\/147741\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147741"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}