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class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u8272\u7d20\u306e\u4e0d\u8db3\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u305f\u3060\u3057\u3001<strong>\u65e9\u3044\u6642\u671f\u304b\u3089\u8996\u529b\u3092\u6700\u5927\u9650\u306b\u751f\u304b\u3059\u305f\u3081\u306e\u5bfe\u5fdc\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u751f\u6d3b\u3084\u5b66\u7fd2\u306e\u3057\u3084\u3059\u3055\u3092\u9ad8\u3081\u308b\u3053\u3068\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u93e1\u30fb\u30b3\u30f3\u30bf\u30af\u30c8\u30ec\u30f3\u30ba<\/strong>\uff1a\u5c48\u6298\u7570\u5e38\u3092\u65e9\u3081\u306b\u77ef\u6b63\u3057\u3001\u8996\u529b\u306e\u767a\u9054\u3092\u52a9\u3051\u307e\u3059<\/li>\n\n\n\n<li><strong>\u307e\u3076\u3057\u3055\u3078\u306e\u5bfe\u7b56<\/strong>\uff1a\u906e\u5149\u773c\u93e1\u3001\u5e3d\u5b50\u3001\u30b5\u30f3\u30b0\u30e9\u30b9\u306a\u3069<\/li>\n\n\n\n<li><strong>\u5f31\u8996\u7528\u306e\u88dc\u52a9\u5177\uff08\u30ed\u30fc\u30d3\u30b8\u30e7\u30f3\u30b1\u30a2\uff09<\/strong>\uff1a\u62e1\u5927\u93e1\u3001\u5358\u773c\u93e1\u3001\u62e1\u5927\u8aad\u66f8\u5668\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306e\u62e1\u5927\u6a5f\u80fd\u306a\u3069<\/li>\n\n\n\n<li><strong>\u659c\u8996\u306e\u6cbb\u7642<\/strong>\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u773c\u93e1\u3084\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u773c\u79d1\u3067\u306e\u7d4c\u904e\u89b3\u5bdf<\/strong><\/li>\n\n\n\n<li><strong>\u5b66\u6821\u30fb\u5c31\u52b4\u3067\u306e\u652f\u63f4<\/strong>\uff1a\u5ea7\u5e2d\u306e\u4f4d\u7f6e\u3001\u62e1\u5927\u6559\u6750\u3001\u8a66\u9a13\u6642\u9593\u306e\u914d\u616e\u306a\u3069\u3002\u904b\u8ee2\u514d\u8a31\u306f\u8996\u529b\u306e\u57fa\u6e96\u306b\u3088\u3063\u3066\u53d6\u5f97\u3067\u304d\u306a\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059<\/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>GPR143<\/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>GPR143<\/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\">X\u9023\u9396\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u304a\u6bcd\u3055\u307e\u304c\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>\u7537\u306e\u5b50\u306e2\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u3001\u5973\u306e\u5b50\u306e2\u5206\u306e1\u304c\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\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>GPR143<\/strong>\uff08OA1\uff09\u306f<strong>\u30e1\u30e9\u30ce\u30bd\u30fc\u30e0\u819c\u306b\u5c40\u5728\u3059\u308b7\u56de\u819c\u8cab\u901a\u578b\u306eG\u86cb\u767d\u8cea\u5171\u5f79\u53d7\u5bb9\u4f53<\/strong>\u3067\u3001L-DOPA \u304c\u5185\u56e0\u6027\u30ea\u30ac\u30f3\u30c9\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u30e1\u30e9\u30ce\u30bd\u30fc\u30e0\u306e\u751f\u5408\u6210\u30fb\u6210\u719f\u30fb\u5927\u304d\u3055\u306e\u5236\u5fa1\u306b\u95a2\u308f\u308b\u7d30\u80de\u5185\u30b7\u30b0\u30ca\u30eb\u3092\u62c5\u3044\u3001\u6b20\u640d\u3059\u308b\u3068<strong>\u76ae\u819a\u30e1\u30e9\u30ce\u30b5\u30a4\u30c8\u3068\u7db2\u819c\u8272\u7d20\u4e0a\u76ae\u306b\u5de8\u5927\u30e1\u30e9\u30ce\u30bd\u30fc\u30e0<\/strong>\u304c\u51fa\u73fe\u3059\u308b\u3002\u76ae\u819a\u306e\u5de8\u5927\u30e1\u30e9\u30ce\u30bd\u30fc\u30e0\u306f\u304b\u3064\u3066\u8a3a\u65ad\u306e\u88dc\u52a9\u306b\u7528\u3044\u3089\u308c\u305f\u304c\u3001\u73fe\u5728\u306f\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u4e3b\u4f53\u3067\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u773c\u6240\u898b\u306f\u773c\u76ae\u819a\u767d\u76ae\u75c7\u3068\u5171\u901a\u3059\u308b\u300c\u767d\u76ae\u75c7\u306e\u773c\u300d\u2014\u2014\u4e2d\u5fc3\u7aa9\u4f4e\u5f62\u6210\u3001\u773c\u632f\u3001\u8679\u5f69\u900f\u7167\u3001\u773c\u5e95\u4f4e\u8272\u7d20\u3001\u8996\u4ea4\u53c9\u3067\u306e\u8033\u5074\u7db2\u819c\u7dda\u7dad\u306e\u904e\u5270\u4ea4\u5dee\u2014\u2014\u3092\u793a\u3059\u304c\u3001\u76ae\u819a\u30fb\u6bdb\u9aea\u306e\u8272\u7d20\u306f\u307b\u307c\u4fdd\u305f\u308c\u308b<\/strong>\u3002\u8996\u529b\u306f\u75c7\u4f8b\u306b\u3088\u308a\u5e45\u304c\u3042\u308a\u3001\u591a\u304f\u306f\u975e\u9032\u884c\u6027\u3067\u3042\u308b\u3002<strong>\u4fdd\u56e0\u5973\u6027\u306e\u591a\u304f\u306b\u3001\u30e9\u30f3\u30c0\u30e0\u306aX\u67d3\u8272\u4f53\u4e0d\u6d3b\u5316\u3092\u53cd\u6620\u3057\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u72b6\u306e\u773c\u5e95\u8272\u7d20\u5206\u5e03\u3084\u8679\u5f69\u900f\u7167\u304c\u307f\u3089\u308c\u3001\u5bb6\u7cfb\u5185\u306e\u4fdd\u56e0\u8005\u306e\u63a8\u5b9a\u306b\u5f79\u7acb\u3064<\/strong>\u3002\u307e\u308c\u306b\u3001X\u9023\u9396\u6027\u9b5a\u9c57\u766c\uff08<em>STS<\/em>\uff09\u306a\u3069\u3092\u542b\u3080 Xp22.3 \u9818\u57df\u306e\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u306e\u4e00\u90e8\u3068\u3057\u3066\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u773c\u76ae\u819a\u767d\u76ae\u75c7\uff08<em>TYR<\/em>\u3001<em>OCA2<\/em> \u306a\u3069\u306e\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u3067\u3001\u8efd\u75c7\u578b\u3067\u306f\u76ae\u819a\u6240\u898b\u304c\u76ee\u7acb\u305f\u306a\u3044\uff09\u3001\u30aa\u30fc\u30e9\u30f3\u30c9\u5cf6\u773c\u75c5\uff08<em>CACNA1F<\/em>\u3001X\u9023\u9396\u3001\u304b\u3064\u3066\u773c\u767d\u76ae\u75c72\u578b\u3068\u547c\u3070\u308c\u305f\uff09\u3001X\u9023\u9396\u5148\u5929\u773c\u632f\uff08<em>FRMD7<\/em>\uff09\u3001\u7121\u8679\u5f69\u75c7\uff08<em>PAX6<\/em>\uff09\u3001<em>SLC38A8<\/em> \u95a2\u9023\u306e\u4e2d\u5fc3\u7aa9\u4f4e\u5f62\u6210\u304c\u6319\u304c\u308b\u3002<strong>\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308b\u3068\u3001\u6b21\u5b50\u518d\u767a\u7387\u3084\u4fdd\u56e0\u8005\u306e\u7bc4\u56f2\u304c\u5927\u304d\u304f\u5909\u308f\u308b\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\u306fX\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u7537\u306e\u5b50\u3067\u306f\u598a\u5a20\u3054\u3068\u306b2\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u3001\u5973\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u307e\u3059\u3002<\/strong>\u307e\u308c\u306b\u304a\u5b50\u3055\u307e\u306e\u907a\u4f1d\u5b50\u306b\u65b0\u305f\u306b\u5909\u5316\u304c\u8d77\u304d\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308a\u3001\u305d\u306e\u3068\u304d\u306e\u898b\u901a\u3057\u306f\u7570\u306a\u308a\u307e\u3059\u3002<strong>\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u7236\u89aa\u304c\u767a\u75c7\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u3069\u3082\u306f\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u304a\u7236\u3055\u307e\u306eX\u67d3\u8272\u4f53\u306f\u5a18\u3055\u3093\u306b\u3060\u3051\u53d7\u3051\u7d99\u304c\u308c\u308b\u305f\u3081\u3001\u5a18\u3055\u3093\u306f\u5168\u54e1\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u3001\u606f\u5b50\u3055\u3093\u306b\u306f\u53d7\u3051\u7d99\u304c\u308c\u307e\u305b\u3093\u3002<\/strong>\u5a18\u3055\u3093\u306f\u591a\u304f\u306e\u5834\u5408\u75c7\u72b6\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5c06\u6765\u3054\u81ea\u8eab\u306e\u304a\u5b50\u3055\u307e\uff08\u7537\u306e\u5b50\uff09\u306b\u5f71\u97ff\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u76ee\u304c\u898b\u3048\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u8996\u529b\u306f\u751f\u307e\u308c\u3064\u304d\u4f4e\u3081\u3067\u3059\u304c\u3001\u591a\u304f\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u60aa\u304f\u306a\u3063\u3066\u3044\u304f\u75c5\u6c17\u3067\u306f\u306a\u304f\u3001\u5168\u304f\u898b\u3048\u306a\u304f\u306a\u308b\u3053\u3068\u306f\u307e\u308c\u3067\u3059\u3002<\/strong>\u773c\u632f\u306f\u5e74\u9f62\u3068\u3068\u3082\u306b\u76ee\u7acb\u305f\u306a\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u773c\u93e1\u3084\u88dc\u52a9\u5177\u3092\u4f7f\u3044\u3001\u901a\u5e38\u306e\u5b66\u6821\u306b\u901a\u3044\u3001\u4ed5\u4e8b\u3092\u3055\u308c\u3066\u3044\u308b\u65b9\u3082\u591a\u304f\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u76ee\u306e\u8272\u7d20\u3084\u7db2\u819c\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u3082\u306e\u306a\u306e\u3067\u3001\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u898b\u3064\u3051\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/strong>\u3054\u5bb6\u65cf\u306b\u60a3\u8005\u3055\u3093\u3084\u30ad\u30e3\u30ea\u30a2\u306e\u65b9\u304c\u3044\u3066\u539f\u56e0\u306e\u5909\u5316\u304c\u5206\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u8abf\u3079\u308b\u3053\u3068\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. \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>Lewis RA. Ocular Albinism, X-Linked. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #300500 Albinism, Ocular, Type I; OA1. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Bassi MT, Schiaffino MV, Renieri A, et al. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. <em>Nat Genet<\/em>. 1995;10(1):13-19.<\/li>\n\n\n\n<li>Schiaffino MV, Tacchetti C. The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. <em>Pigment Cell Res<\/em>. 2005;18(4):227-233.<\/li>\n\n\n\n<li>Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS. L-DOPA is an endogenous ligand for OA1. <em>PLoS Biol<\/em>. 2008;6(9):e236.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147370","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\/147370","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\/147370\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147370"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}