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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\u30c1\u30a7\u30c7\u30a3\u30a2\u30c3\u30af\u30fb\u6771\u75c7\u5019\u7fa4\u3067\u306f <strong>LYST<\/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>\u4f3c\u305f\u75c7\u72b6\u306e\u75c5\u6c17\uff08\u30b0\u30ea\u30bb\u30ea\u75c7\u5019\u7fa4\u3084\u30d8\u30eb\u30de\u30f3\u30b9\u30ad\u30fc\u30fb\u30d1\u30c9\u30e9\u30c3\u30af\u75c7\u5019\u7fa4\u306a\u3069\uff09\u306f\u6cbb\u7642\u65b9\u91dd\u3084\u898b\u901a\u3057\u304c\u7570\u306a\u308b\u305f\u3081\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>\u307e\u305f\u3001\u79fb\u690d\u306e\u30c9\u30ca\u30fc\u3068\u306a\u308b\u3054\u304d\u3087\u3046\u3060\u3044\u3092\u9078\u3076\u3046\u3048\u3067\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u514d\u75ab\u3068\u8840\u6db2\u306e\u7570\u5e38\u306b\u5bfe\u3057\u3066\u306f\u3001\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u304c\u3082\u3063\u3068\u3082\u6839\u672c\u7684\u306a\u6cbb\u7642\u3067\u3059\u3002<\/strong>\u4fc3\u9032\u671f\u306b\u9032\u3080\u524d\u306b\u79fb\u690d\u3092\u884c\u3046\u3068\u3001\u3088\u308a\u826f\u3044\u7d50\u679c\u304c\u671f\u5f85\u3067\u304d\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001<strong>\u79fb\u690d\u3092\u3057\u3066\u3082\u9aea\u3084\u76ae\u819a\u306e\u8272\u3001\u305d\u3057\u3066\u795e\u7d4c\u306e\u75c7\u72b6\u306f\u6539\u5584\u305b\u305a\u3001\u795e\u7d4c\u306e\u75c7\u72b6\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u79fb\u690d\u306b\u306f\u5408\u4f75\u75c7\u306e\u5371\u967a\u3082\u3042\u308b\u305f\u3081\u3001\u6642\u671f\u3084\u65b9\u6cd5\u306f\u5c02\u9580\u306e\u533b\u7642\u30c1\u30fc\u30e0\u3068\u5341\u5206\u306b\u8a71\u3057\u5408\u3063\u3066\u6c7a\u3081\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d<\/strong>\uff1a\u767d\u8840\u7403\u3084NK\u7d30\u80de\u306e\u306f\u305f\u3089\u304d\u3092\u56de\u5fa9\u3055\u305b\u3001\u611f\u67d3\u75c7\u3068\u4fc3\u9032\u671f\u3092\u9632\u3050\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u4fc3\u9032\u671f\u306e\u6cbb\u7642<\/strong>\uff1a\u6297\u304c\u3093\u5264\u3001\u30b9\u30c6\u30ed\u30a4\u30c9\u3001\u514d\u75ab\u6291\u5236\u85ac\u306a\u3069\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u514d\u75ab\u306e\u66b4\u8d70\u3092\u6291\u3048\u3001\u305d\u306e\u3046\u3048\u3067\u79fb\u690d\u306b\u3064\u306a\u3052\u307e\u3059<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u75c7\u306e\u6cbb\u7642\u3068\u4e88\u9632<\/strong>\uff1a\u65e9\u3081\u306e\u6297\u83cc\u85ac\u6cbb\u7642\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u4e88\u9632\u5185\u670d<\/li>\n\n\n\n<li><strong>\u51fa\u8840\u3078\u306e\u5bfe\u7b56<\/strong>\uff1a\u30a2\u30b9\u30d4\u30ea\u30f3\u306a\u3069\u8840\u3092\u6b62\u307e\u308a\u306b\u304f\u304f\u3059\u308b\u85ac\u3092\u907f\u3051\u3001\u624b\u8853\u3084\u629c\u6b6f\u306e\u524d\u306b\u306f\u6b62\u8840\u306e\u6e96\u5099\u3092\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u65e5\u5149\u5bfe\u7b56\u3068\u76ee\u306e\u8a3a\u5bdf<\/strong>\uff1a\u65e5\u713c\u3051\u6b62\u3081\u3084\u30b5\u30f3\u30b0\u30e9\u30b9\u3067\u76ae\u819a\u3068\u76ee\u3092\u5b88\u308a\u3001\u5b9a\u671f\u7684\u306b\u773c\u79d1\u3092\u53d7\u8a3a\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u75c7\u72b6\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u5b9a\u671f\u7684\u306a\u795e\u7d4c\u306e\u8a3a\u5bdf\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3001\u5b66\u7fd2\u9762\u306e\u652f\u63f4<\/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>LYST<\/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>LYST<\/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>LYST<\/strong>\uff08lysosomal trafficking regulator\uff09\u306f BEACH \u30c9\u30e1\u30a4\u30f3\u3092\u6301\u3064\u5de8\u5927\u306a\u7d30\u80de\u8cea\u305f\u3093\u3071\u304f\u8cea\u3067\u3001<strong>\u30ea\u30bd\u30bd\u30fc\u30e0\u304a\u3088\u3073\u30ea\u30bd\u30bd\u30fc\u30e0\u95a2\u9023\u30aa\u30eb\u30ac\u30cd\u30e9\uff08\u30e1\u30e9\u30ce\u30bd\u30fc\u30e0\u3001\u8840\u5c0f\u677f\u6fc3\u67d3\u9846\u7c92\u3001\u7d30\u80de\u50b7\u5bb3\u6027\u9846\u7c92\u306a\u3069\uff09\u306e\u5927\u304d\u3055\u3068\u5206\u6ccc\u3092\u5236\u5fa1\u3059\u308b<\/strong>\u3002\u6b20\u640d\u306b\u3088\u308a<strong>\u3053\u308c\u3089\u306e\u30aa\u30eb\u30ac\u30cd\u30e9\u304c\u878d\u5408\u30fb\u5de8\u5927\u5316\u3057\u3001\u958b\u53e3\u5206\u6ccc\u304c\u969c\u5bb3\u3055\u308c\u308b<\/strong>\u3002\u672b\u68a2\u8840\u5857\u62b9\u6a19\u672c\u3067\u306e\u597d\u4e2d\u7403\u30fb\u30ea\u30f3\u30d1\u7403\u306e\u5de8\u5927\u9846\u7c92\u3001\u6bdb\u5e79\u306e\u4e0d\u898f\u5247\u306a\u30e1\u30e9\u30cb\u30f3\u584a\u304c\u8a3a\u65ad\u7684\u6240\u898b\u3067\u3042\u308b\u3002\u30de\u30a6\u30b9\u306e beige \u5909\u7570\u4f53\u304c\u76f8\u540c\u30e2\u30c7\u30eb\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u8868\u73fe\u578b\u306f\u6b8b\u5b58 LYST \u6a5f\u80fd\u306b\u76f8\u95a2\u3059\u308b<\/strong>\u2014\u2014<strong>\u4e21\u30a2\u30ec\u30eb\u306e\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\u306f\u91cd\u75c7\u306e\u5c0f\u5150\u578b\uff08\u65e9\u671f\u306e\u6613\u611f\u67d3\u6027\u3068\u3001\u5927\u591a\u6570\u306b\u751f\u3058\u308b\u4fc3\u9032\u671f\uff1dHLH\uff09\u3068\u95a2\u9023\u3057\u3001\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306f\u611f\u67d3\u75c7\u304c\u8efd\u304f\u3001\u601d\u6625\u671f\u30fb\u6210\u4eba\u671f\u306e\u9032\u884c\u6027\u795e\u7d4c\u5909\u6027\uff08\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u3001\u5c0f\u8133\u5931\u8abf\u3001\u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b\u3001\u30d1\u30fc\u30ad\u30f3\u30bd\u30cb\u30ba\u30e0\uff09\u3092\u4e3b\u5fb4\u3068\u3059\u308b\u8efd\u75c7\u578b\u3068\u95a2\u9023\u3059\u308b\u50be\u5411\u304c\u3042\u308b<\/strong>\u3002<strong>\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u306f\u8840\u6db2\u30fb\u514d\u75ab\u5b66\u7684\u7570\u5e38\u3068 HLH \u3092\u662f\u6b63\u3059\u308b\u304c\u3001\u8272\u7d20\u7570\u5e38\u3068\u795e\u7d4c\u5909\u6027\u306f\u662f\u6b63\u3057\u306a\u3044<\/strong>\u305f\u3081\u3001\u79fb\u690d\u5f8c\u3082\u9577\u671f\u306e\u795e\u7d4c\u5b66\u7684\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u8272\u7d20\u7570\u5e38\u3092\u4f34\u3046\u514d\u75ab\u4e0d\u5168\u75c7\u5019\u7fa4\u3067\u3042\u308b\u30b0\u30ea\u30bb\u30ea\u75c7\u5019\u7fa42\u578b\uff08<em>RAB27A<\/em>\uff09\u3001\u30d8\u30eb\u30de\u30f3\u30b9\u30ad\u30fc\u30fb\u30d1\u30c9\u30e9\u30c3\u30af\u75c7\u5019\u7fa42\u578b\uff08<em>AP3B1<\/em>\uff09\u3001\u304a\u3088\u3073\u8272\u7d20\u7570\u5e38\u3092\u4f34\u308f\u306a\u3044\u5bb6\u65cf\u6027\u8840\u7403\u8caa\u98df\u6027\u30ea\u30f3\u30d1\u7d44\u7e54\u7403\u75c7\uff08<em>PRF1<\/em>\u3001<em>UNC13D<\/em>\u3001<em>STX11<\/em>\u3001<em>STXBP2<\/em>\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u767d\u8840\u7403\u306e\u5de8\u5927\u9846\u7c92\u306e\u6709\u7121\u3068\u6bdb\u9aea\u306e\u30e1\u30e9\u30cb\u30f3\u5206\u5e03\u304c\u9451\u5225\u306b\u6709\u7528\u3067\u3001\u3044\u305a\u308c\u3082\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u3067\u3042\u308b\u304c\u6cbb\u7642\u65b9\u91dd\u3068\u795e\u7d4c\u5b66\u7684\u4e88\u5f8c\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u6cbb\u7642\u9078\u629e\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>2\u5206\u306e1\u306e\u78ba\u7387\u3067\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u30014\u5206\u306e1\u306e\u78ba\u7387\u3067\u5909\u5316\u3092\u53d7\u3051\u7d99\u304e\u307e\u305b\u3093\u3002<strong>\u3054\u5bb6\u65cf\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308c\u3070\u3001\u6b21\u306e\u598a\u5a20\u3067\u306e\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u3082\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002<\/strong><\/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\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u5f62\u306e\u7570\u5e38\u3068\u3057\u3066\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u591a\u304f\u306f\u751f\u307e\u308c\u305f\u3042\u3068\u3001\u9aea\u306e\u8272\u3084\u611f\u67d3\u75c7\u3092\u304d\u3063\u304b\u3051\u306b\u8a3a\u65ad\u3055\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\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\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. \u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u3092\u3059\u308c\u3070\u6cbb\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u79fb\u690d\u306b\u3088\u3063\u3066\u3001\u611f\u67d3\u75c7\u306e\u304b\u304b\u308a\u3084\u3059\u3055\u3084\u4fc3\u9032\u671f\u3068\u3044\u3063\u305f\u514d\u75ab\u30fb\u8840\u6db2\u306e\u7570\u5e38\u3092\u6cbb\u3059\u3053\u3068\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/strong>\u4e00\u65b9\u3067\u3001\u9aea\u3084\u76ae\u819a\u306e\u8272\u306f\u5909\u308f\u3089\u305a\u3001<strong>\u795e\u7d4c\u306e\u75c7\u72b6\u306f\u79fb\u690d\u306e\u3042\u3068\u3082\u5e74\u9f62\u3068\u3068\u3082\u306b\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308b<\/strong>\u305f\u3081\u3001\u9577\u304f\u7d4c\u904e\u3092\u307f\u3066\u3044\u304f\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u79fb\u690d\u305d\u306e\u3082\u306e\u306b\u3082\u5371\u967a\u304c\u3042\u308b\u305f\u3081\u3001\u4e3b\u6cbb\u533b\u3068\u3088\u304f\u8a71\u3057\u5408\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3002<strong>\u907a\u4f1d\u5b50\u306e\u306f\u305f\u3089\u304d\u304c\u4e00\u90e8\u6b8b\u3063\u3066\u3044\u308b\u8efd\u75c7\u578b\u3067\u306f\u3001\u5b50\u3069\u3082\u306e\u3053\u308d\u306e\u611f\u67d3\u75c7\u304c\u76ee\u7acb\u305f\u305a\u3001\u601d\u6625\u671f\u4ee5\u964d\u306b\u6b69\u304d\u306b\u304f\u3055\u3084\u624b\u8db3\u306e\u3057\u3073\u308c\u306a\u3069\u795e\u7d4c\u306e\u75c7\u72b6\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u305f\u3081\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u8a3a\u5bdf\u304c\u5927\u5207\u3067\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>Toro C, Nicoli ER, Malicdan MC, Adams DR, Introne WJ. Chediak-Higashi Syndrome. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #214500 Chediak-Higashi Syndrome; CHS. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Introne W, Boissy RE, Gahl WA. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. <em>Mol Genet Metab<\/em>. 1999;68(2):283-303.<\/li>\n\n\n\n<li>Nagle DL, Karim MA, Woolf EA, et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. <em>Nat Genet<\/em>. 1996;14(3):307-311.<\/li>\n\n\n\n<li>Barbosa MD, Nguyen QA, Tchernev VT, et al. Identification of the homologous beige and Chediak-Higashi syndrome genes. <em>Nature<\/em>. 1996;382(6588):262-265.<\/li>\n\n\n<\/ul>\n\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147832","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\/147832","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\/147832\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147832"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}