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class=\"wp-block-paragraph\">\u773c\u76ae\u819a\u767d\u76ae\u75c7VII\u578b\u306f\u3001<strong>\u76ae\u819a\u30fb\u9aea\u30fb\u76ee\u306e\u8272\u7d20\uff08\u30e1\u30e9\u30cb\u30f3\uff09\u304c\u5c11\u306a\u304f\u306a\u308a\u3001\u3068\u304f\u306b\u76ee\u306e\u898b\u3048\u65b9\u306b\u5f71\u97ff\u304c\u51fa\u308b\u75c5\u6c17<\/strong>\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>LRMDA<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p 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class=\"wp-block-paragraph\">VII\u578b\u306f\u3001<strong>2013\u5e74\u306b\u30d5\u30a7\u30ed\u30fc\u8af8\u5cf6\uff08\u30c7\u30f3\u30de\u30fc\u30af\u9818\uff09\u306e\u3054\u5bb6\u7cfb\u306e\u7814\u7a76\u304b\u3089\u898b\u3064\u304b\u3063\u305f\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u578b<\/strong>\u3067\u3001<strong>\u4e16\u754c\u3067\u3082\u5831\u544a\u306f\u3054\u304f\u5c11\u6570<\/strong>\u3067\u3059\u3002\u767d\u76ae\u75c7\u305d\u306e\u3082\u306e\u306f\u77e5\u7684\u767a\u9054\u3084\u5bff\u547d\u306b\u5f71\u97ff\u3059\u308b\u75c5\u6c17\u3067\u306f\u306a\u304f\u3001<strong>\u76ee\u3068\u76ae\u819a\u306e\u30b1\u30a2\u3092\u7d9a\u3051\u306a\u304c\u3089\u3001\u591a\u304f\u306e\u65b9\u304c\u5b66\u6821\u751f\u6d3b\u3084\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>LRMDA<\/strong> 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class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u4e73\u5150\u671f\u306e<strong>\u773c\u632f<\/strong>\u3084\u3001\u773c\u79d1\u3067\u306e<strong>\u8679\u5f69\u306e\u900f\u3051\u3001\u9ec4\u6591\u306e\u4f4e\u5f62\u6210<\/strong>\u3092\u304d\u3063\u304b\u3051\u306b\u7591\u308f\u308c\u307e\u3059\u3002\u767d\u76ae\u75c7\u3067\u306f\u8996\u795e\u7d4c\u306e\u4ea4\u5dee\u306e\u4ed5\u65b9\u304c\u901a\u5e38\u3068\u7570\u306a\u308b\u305f\u3081\u3001<strong>\u8996\u899a\u8a98\u767a\u96fb\u4f4d\uff08VEP\uff09<\/strong>\u3068\u3044\u3046\u691c\u67fb\u3067\u7279\u5fb4\u7684\u306a\u6240\u898b\u304c\u5f97\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08OCT\uff09\u3067\u9ec4\u6591\u306e\u5f62\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3082\u8a3a\u65ad\u306e\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u76ae\u819a\u3084\u9aea\u306e\u8272\u306e\u5909\u5316\u304c\u8efd\u3044VII\u578b\u306f\u3001\u898b\u305f\u76ee\u3060\u3051\u3067\u306f\u767d\u76ae\u75c7\u3068\u6c17\u3065\u304b\u308c\u306b\u304f\u3044<\/strong>\u305f\u3081\u3001\u76ee\u306e\u6240\u898b\u304c\u91cd\u8981\u3067\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u773c\u76ae\u819a\u767d\u76ae\u75c7VII\u578b\u3067\u306f <strong>LRMDA<\/strong> 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class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u7684\u306a\u773c\u79d1\u8a3a\u5bdf<\/strong>\uff1a\u4e73\u5e7c\u5150\u671f\u304b\u3089\u5c48\u6298\u306e\u72b6\u614b\u3092\u8abf\u3079\u3001\u9069\u5207\u306a\u773c\u93e1\u3067\u8996\u529b\u306e\u767a\u9054\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u307e\u3076\u3057\u3055\u3078\u306e\u5bfe\u7b56<\/strong>\uff1a\u906e\u5149\u773c\u93e1\u3001\u3064\u3070\u306e\u5e83\u3044\u5e3d\u5b50\u306a\u3069\u3092\u4f7f\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5f31\u8996\u30fb\u30ed\u30fc\u30d3\u30b8\u30e7\u30f3\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u62e1\u5927\u93e1\u3084\u62e1\u5927\u8aad\u66f8\u5668\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306e\u6d3b\u7528\u3001\u6559\u5ba4\u3067\u306e\u5ea7\u5e2d\u306e\u914d\u616e\u306a\u3069<\/li>\n\n\n\n<li>\u659c\u8996\u3084\u3001\u773c\u632f\u306b\u3068\u3082\u306a\u3046\u982d\u306e\u50be\u304d\u306b\u5bfe\u3057\u3066\u306f\u3001\u72b6\u614b\u306b\u5fdc\u3058\u3066\u624b\u8853\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u7d2b\u5916\u7dda\u5bfe\u7b56\u3068\u76ae\u819a\u306e\u5b9a\u671f\u7684\u306a\u78ba\u8a8d<\/strong>\uff1a\u65e5\u713c\u3051\u6b62\u3081\u3001\u8863\u985e\u3067\u306e\u906e\u5149\u3001\u76ae\u819a\u79d1\u3067\u306e\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf<\/li>\n\n\n\n<li><strong>\u5c31\u5b66\u30fb\u5c31\u52b4\u306b\u5411\u3051\u305f\u76f8\u8ac7\u3068\u3001\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4<\/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>LRMDA<\/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>LRMDA<\/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\">\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\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>LRMDA<\/strong>\uff08leucine-rich melanocyte differentiation associated\u3001\u65e7\u540d <em>C10orf11<\/em>\uff09\u306f\u30ed\u30a4\u30b7\u30f3\u30ea\u30c3\u30c1\u30ea\u30d4\u30fc\u30c8\u3092\u3082\u3064\u305f\u3093\u3071\u304f\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3001<strong>\u30e1\u30e9\u30ce\u30b5\u30a4\u30c8\u306e\u5206\u5316\u306b\u95a2\u4e0e\u3059\u308b<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002Gr\u00f8nskov \u3089\u306f2013\u5e74\u3001\u30d5\u30a7\u30ed\u30fc\u8af8\u5cf6\u306e\u8fd1\u89aa\u5a5a\u5bb6\u7cfb\u306e\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u767d\u76ae\u75c7\u3067\u672c\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u540c\u5b9a\u3057\u3001OCA7 \u3068\u547d\u540d\u3057\u305f\u3002<strong>\u30bc\u30d6\u30e9\u30d5\u30a3\u30c3\u30b7\u30e5\u3067\u306e\u6a5f\u80fd\u963b\u5bb3\u306b\u3088\u308a\u8272\u7d20\u3092\u3082\u3064\u30e1\u30e9\u30ce\u30b5\u30a4\u30c8\u304c\u6e1b\u5c11\u3057<\/strong>\u3001\u30d2\u30c8\u80ce\u5150\u7d44\u7e54\u3067\u3082\u30e1\u30e9\u30ce\u30b5\u30a4\u30c8\u3067\u306e\u767a\u73fe\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u308b\u3002<strong>\u30e1\u30e9\u30cb\u30f3\u5408\u6210\u9175\u7d20\u3084\u8f38\u9001\u4f53\u3067\u306f\u306a\u304f\u3001\u30e1\u30e9\u30ce\u30b5\u30a4\u30c8\u306e\u5206\u5316\u305d\u306e\u3082\u306e\u306b\u95a2\u308f\u308b\u70b9\u304c\u4ed6\u306e OCA \u907a\u4f1d\u5b50\u3068\u7570\u306a\u308b<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u81e8\u5e8a\u50cf\u306f<strong>\u773c\u75c7\u72b6\uff08\u773c\u632f\u3001\u8996\u529b\u4f4e\u4e0b\u3001\u8679\u5f69\u5fb9\u7167\u3001\u4e2d\u5fc3\u7aa9\u4f4e\u5f62\u6210\u3001VEP \u3067\u306e\u8996\u795e\u7d4c\u4ea4\u53c9\u7570\u5e38\uff09\u304c\u4e3b\u4f53\u3067\u3001\u76ae\u819a\u30fb\u6bdb\u9aea\u306e\u4f4e\u8272\u7d20\u306f\u8efd\u5ea6<\/strong>\u306b\u3068\u3069\u307e\u308a\u3001\u5bb6\u65cf\u5185\u3067\u6bd4\u3079\u3066\u521d\u3081\u3066\u308f\u304b\u308b\u7a0b\u5ea6\u306e\u3053\u3068\u3082\u3042\u308b\u3002<strong>\u3053\u306e\u305f\u3081\u773c\u767d\u76ae\u75c7\uff08<em>GPR143<\/em>\u3001X\u9023\u9396\u6f5c\u6027\uff09\u3084\u4ed6\u306e\u8efd\u75c7\u578b OCA \u3068\u306e\u9451\u5225\u304c\u554f\u984c\u3068\u306a\u308b<\/strong>\u3002\u73fe\u6642\u70b9\u3067 LRMDA \u306e\u5909\u7570\u306b\u3088\u308b OCA7 \u4ee5\u5916\u306e\u75be\u60a3\u306f\u78ba\u7acb\u3057\u3066\u304a\u3089\u305a\u3001\u5831\u544a\u4f8b\u306f\u6b27\u5dde\u306e\u5bb6\u7cfb\u3092\u4e2d\u5fc3\u306b\u3054\u304f\u5c11\u6570\u3067\u3001\u8868\u73fe\u578b\u306e\u5e45\u306f\u5341\u5206\u306b\u306f\u660e\u3089\u304b\u3067\u306a\u3044\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001OCA1\uff08<em>TYR<\/em>\uff09\u3001OCA2\uff08<em>OCA2<\/em>\uff09\u3001OCA3\uff08<em>TYRP1<\/em>\uff09\u3001OCA4\uff08<em>SLC45A2<\/em>\u3001\u65e5\u672c\u4eba\u306b\u6bd4\u8f03\u7684\u591a\u3044\uff09\u3001OCA6\uff08<em>SLC24A5<\/em>\uff09\u3001OCA8\uff08<em>DCT<\/em>\uff09\u3001\u304a\u3088\u3073\u75c7\u5019\u6027\u767d\u76ae\u75c7\u3067\u3042\u308b\u30d8\u30eb\u30de\u30f3\u30b9\u30ad\u30fc\u30fb\u30d1\u30c9\u30e9\u30c3\u30af\u75c7\u5019\u7fa4\uff08\u51fa\u8840\u50be\u5411\u3001\u80ba\u7dda\u7dad\u75c7\uff09\u3084\u30c1\u30a7\u30c7\u30a3\u30a2\u30c3\u30af\u30fb\u6771\u75c7\u5019\u7fa4\uff08\u6613\u611f\u67d3\u6027\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u75c7\u5019\u6027\u767d\u76ae\u75c7\u3067\u306f\u5168\u8eab\u7ba1\u7406\u304c\u5fc5\u8981\u3068\u306a\u308a\u3001\u773c\u767d\u76ae\u75c7\u3067\u306f\u907a\u4f1d\u5f62\u5f0f\u304c X \u9023\u9396\u3068\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u4e88\u5f8c\u8aac\u660e\u3068\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\u30fb\u5973\u306e\u5b50\u3067\u78ba\u7387\u306f\u5909\u308f\u308a\u307e\u305b\u3093\u3002\u75c7\u72b6\u306e\u306a\u3044\u3054\u304d\u3087\u3046\u3060\u3044\u306f\u30013\u5206\u306e2\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\u3067\u3059\u3002<strong>\u767d\u76ae\u75c7\u306b\u306f\u907a\u4f1d\u5f62\u5f0f\u306e\u7570\u306a\u308b\u578b\u3082\u3042\u308b\u305f\u3081\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>\u3053\u306e\u75c5\u6c17\u306f\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u898b\u3064\u3051\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002<\/strong>\u591a\u304f\u306f\u751f\u5f8c\u6570\u304b\u6708\u3054\u308d\u306e\u773c\u632f\u306a\u3069\u3092\u304d\u3063\u304b\u3051\u306b\u6c17\u3065\u304b\u308c\u307e\u3059\u3002\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u8a3a\u65ad\u304c\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u3054\u592b\u5a66\u304c\u30ad\u30e3\u30ea\u30a2\u3068\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. \u808c\u3084\u9aea\u306e\u8272\u304c\u305d\u308c\u307b\u3069\u767d\u304f\u306a\u304f\u3066\u3082\u3001\u3053\u306e\u75c5\u6c17\u306e\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3002<strong>VII\u578b\u306f\u76ae\u819a\u3084\u9aea\u306e\u8272\u306e\u5909\u5316\u304c\u8efd\u304f\u3001\u3054\u5bb6\u65cf\u3068\u6bd4\u3079\u3066\u5c11\u3057\u8272\u767d\u3068\u3044\u3046\u7a0b\u5ea6\u306e\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/strong>\u4e00\u65b9\u3067\u76ee\u306e\u75c7\u72b6\u306f\u306f\u3063\u304d\u308a\u73fe\u308c\u308b\u305f\u3081\u3001\u773c\u632f\u3084\u8996\u529b\u306e\u4f4e\u4e0b\u304c\u3042\u308b\u3068\u304d\u306f\u773c\u79d1\u3067\u8a73\u3057\u304f\u8abf\u3079\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u539f\u56e0\u3092\u78ba\u304b\u3081\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u8996\u529b\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u826f\u304f\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u773c\u632f\u306f\u5e7c\u5150\u671f\u306b\u304b\u3051\u3066\u76ee\u7acb\u305f\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u8996\u529b\u3082\u4e73\u5e7c\u5150\u671f\u306b\u3042\u308b\u7a0b\u5ea6\u4f38\u3073\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u7db2\u819c\u306e\u4e2d\u5fc3\u306e\u767a\u9054\u306e\u9055\u3044\u305d\u306e\u3082\u306e\u306f\u6cbb\u3089\u306a\u3044\u305f\u3081\u3001\u3069\u3053\u307e\u3067\u898b\u3048\u308b\u3088\u3046\u306b\u306a\u308b\u304b\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u65e9\u3044\u6642\u671f\u304b\u3089\u773c\u93e1\u3084\u898b\u3048\u65b9\u306e\u652f\u63f4\u3092\u59cb\u3081\u308b\u3053\u3068\u304c\u3001\u5b66\u7fd2\u3084\u751f\u6d3b\u306e\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\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>Gr\u00f8nskov K, Dooley CM, \u00d8stergaard E, et al. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. <em>Am J Hum Genet<\/em>. 2013;92(3):415-421.<\/li>\n\n\n\n<li>Gr\u00f8nskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. <em>Orphanet J Rare Dis<\/em>. 2007;2:43.<\/li>\n\n\n\n<li>Montoliu L, Gr\u00f8nskov K, Wei AH, et al. Increasing the complexity: new genes and new types of albinism. <em>Pigment Cell Melanoma Res<\/em>. 2014;27(1):11-18.<\/li>\n\n\n\n<li>Lewis RA. Oculocutaneous Albinism Type 1. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #615179 Albinism, oculocutaneous, type VII. 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-147307","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\/147307","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\/147307\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147307"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}