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class=\"wp-block-list\">\n<li><strong>\u6574\u5f62\u5916\u79d1\u3067\u306e\u7ba1\u7406<\/strong>\uff1a\u80a1\u95a2\u7bc0\u3084\u819d\u306e\u8131\u81fc\u3001\u80cc\u9aa8\u306e\u66f2\u304c\u308a\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u88c5\u5177\u3084\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u95a2\u7bc0\u3092\u5b88\u308a\u306a\u304c\u3089\u3001\u4f53\u306e\u52d5\u304b\u3057\u65b9\u3084\u65e5\u5e38\u751f\u6d3b\u306e\u5de5\u592b\u3092\u652f\u63f4\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u53e3\u84cb\u88c2\u304c\u3042\u308b\u5834\u5408\u306e\u6cbb\u7642<\/strong>\uff1a\u624b\u8853\u3084\u3001\u54fa\u4e73\u30fb\u3053\u3068\u3070\u306e\u652f\u63f4\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u652f\u63f4<\/strong>\uff1a\u767a\u9054\u306e\u69d8\u5b50\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u3001\u7642\u80b2\u3084\u5b66\u7fd2\u306e\u652f\u63f4\u306b\u3064\u306a\u3052\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u30fb\u793e\u4f1a\u7684\u652f\u63f4<\/strong>\uff1a\u4f4e\u8eab\u9577\u3068\u3068\u3082\u306b\u66ae\u3089\u3059\u305f\u3081\u306e\u74b0\u5883\u3065\u304f\u308a\u3084\u3001\u798f\u7949\u5236\u5ea6\u306e\u6d3b\u7528\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\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>XYLT1<\/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>XYLT1<\/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>\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>XYLT1<\/strong>\uff08xylosyltransferase 1\uff09\u306f\u3001\u30d7\u30ed\u30c6\u30aa\u30b0\u30ea\u30ab\u30f3\u306e\u30b3\u30a2\u305f\u3093\u3071\u304f\u8cea\u306e\u30bb\u30ea\u30f3\u6b8b\u57fa\u306b\u30ad\u30b7\u30ed\u30fc\u30b9\u3092\u8ee2\u79fb\u3059\u308b\u9175\u7d20\u3067\u3001<strong>\u30d8\u30d1\u30e9\u30f3\u786b\u9178\u30fb\u30b3\u30f3\u30c9\u30ed\u30a4\u30c1\u30f3\u786b\u9178\u306a\u3069\u306e\u30b0\u30ea\u30b3\u30b5\u30df\u30ce\u30b0\u30ea\u30ab\u30f3\u9396\u5408\u6210\u306e\u5f8b\u901f\u7684\u306a\u958b\u59cb\u6bb5\u968e<\/strong>\u3092\u62c5\u3046\u3002\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308a<strong>\u8edf\u9aa8\u306e\u30d7\u30ed\u30c6\u30aa\u30b0\u30ea\u30ab\u30f3\u91cf\u304c\u4f4e\u4e0b<\/strong>\u3057\u3001\u6210\u9577\u677f\u3067\u306e\u8edf\u9aa8\u7d30\u80de\u306e\u5206\u5316\u30fb\u5897\u6b96\u304c\u969c\u5bb3\u3055\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u30c7\u30b9\u30d3\u30e5\u30ad\u30e5\u30a2\u9aa8\u7570\u5f62\u6210\u75c7\u306f\u3001<strong>\u51fa\u751f\u524d\u767a\u75c7\u306e\u91cd\u5ea6\u4f4e\u8eab\u9577\u3001\u95a2\u7bc0\u5f1b\u7de9\u3068\u591a\u767a\u8131\u81fc\u3001\u5e73\u5766\u306a\u9854\u8c8c\u3001\u5927\u817f\u9aa8\u8fd1\u4f4d\u306e\u5c0f\u8ee2\u5b50\u306e\u7a81\u51fa\uff08\u3044\u308f\u3086\u308b\u300c\u30b9\u30a6\u30a7\u30fc\u30c7\u30f3\u9375\u300d\u69d8\u5909\u5f62\uff09<\/strong>\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002\u5f93\u6765\u306f\u624b\u306e\u6240\u898b\u306b\u3088\u308a\u3001\u4f59\u5270\u9aa8\u5316\u4e2d\u5fc3\u3084\u6bcd\u6307\u672b\u7bc0\u9aa8\u306e\u4e8c\u5206\u3092\u4f34\u3046\u578b\u3068\u4f34\u308f\u306a\u3044\u578b\u306b\u5206\u3051\u3089\u308c\u3066\u304d\u305f\u3002<strong>1\u578b\u306e\u539f\u56e0 CANT1 \u304c\u4e3b\u306b\u624b\u306e\u6240\u898b\u3092\u4f34\u3046\u4f8b\u3067\u898b\u3044\u3060\u3055\u308c\u305f\u306e\u306b\u5bfe\u3057\u3001XYLT1 \u306f\u624b\u306e\u6240\u898b\u3092\u4f34\u308f\u306a\u3044\u4f8b\u3067\u540c\u5b9a\u3055\u308c\u305f\uff082014\u5e74\uff09<\/strong>\u3002\u4e21\u907a\u4f1d\u5b50\u3068\u3082\u30d7\u30ed\u30c6\u30aa\u30b0\u30ea\u30ab\u30f3\u5408\u6210\u306b\u95a2\u308f\u308b\u70b9\u3067\u5171\u901a\u3059\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">XYLT1 \u306e\u4e21\u30a2\u30ec\u30eb\u6027\u5909\u7570\u306f\u3001<strong>\u767a\u9054\u9045\u6ede\u3092\u4f34\u3046\u3053\u3068\u306e\u3042\u308b\u30d0\u30e9\u30c6\u30e9\u30fb\u30b9\u30b3\u30c3\u30c8\u75c7\u5019\u7fa4<\/strong>\u3068\u3057\u3066\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u540c\u4e00\u75be\u60a3\u306e\u7bc4\u7587\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<strong>\u540c\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306e\u4e00\u90e8\u3067\u306f\u3001XYLT1 \u306e\u7b2c1\u30a8\u30af\u30bd\u30f3\u8fd1\u508d\u306e GGC \u30ea\u30d4\u30fc\u30c8\u4f38\u9577\u3068\u305d\u308c\u306b\u4f34\u3046\u9ad8\u30e1\u30c1\u30eb\u5316\u306b\u3088\u308b\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u4f4e\u4e0b\u304c\u539f\u56e0\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b<\/strong>\u3002<strong>\u3053\u306e\u3088\u3046\u306a\u30ea\u30d4\u30fc\u30c8\u4f38\u9577\u306f\u901a\u5e38\u306e\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3067\u306f\u691c\u51fa\u304c\u96e3\u3057\u3044\u305f\u3081\u3001\u81e8\u5e8a\u7684\u306b\u5f37\u304f\u7591\u308f\u308c\u308b\u306e\u306b\u5909\u7570\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u306f\u8ffd\u52a0\u306e\u89e3\u6790\u3092\u691c\u8a0e\u3059\u308b<\/strong>\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30c7\u30b9\u30d3\u30e5\u30ad\u30e5\u30a2\u9aa8\u7570\u5f62\u6210\u75c71\u578b\uff08<em>CANT1<\/em>\uff09\u3001\u30e9\u30fc\u30bb\u30f3\u75c7\u5019\u7fa4\uff08<em>FLNB<\/em>\u3001\u9855\u6027\uff09\u3001CHST3 \u95a2\u9023\u9aa8\u7570\u5f62\u6210\u75c7\u3001B3GAT3\u30fbB4GALT7 \u95a2\u9023\u306e\u30ea\u30f3\u30ab\u30fc\u9818\u57df\u75c5\uff08linkeropathy\uff09\u306a\u3069\u304c\u6319\u304c\u308b\u3002<\/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\u306b\u5dee\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4f3c\u305f\u75c7\u72b6\u306e\u9aa8\u7cfb\u7d71\u75be\u60a3\u306b\u306f\u907a\u4f1d\u5f62\u5f0f\u304c\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\u3001\u6b63\u78ba\u306a\u898b\u901a\u3057\u306b\u3064\u306a\u304c\u308a\u307e\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>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u3001\u624b\u8db3\u306e\u9aa8\u304c\u77ed\u3044\u3053\u3068\u304b\u3089\u9aa8\u7cfb\u7d71\u75be\u60a3\u304c\u7591\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u8d85\u97f3\u6ce2\u3060\u3051\u3067\u75c5\u540d\u307e\u3067\u6c7a\u3081\u308b\u3053\u3068\u306f\u96e3\u3057\u304f\u3001\u78ba\u5b9a\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u8a3a\u65ad\u304c\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u598a\u5a20\u65e9\u671f\u304b\u3089\u306e\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. 1\u578b\u30682\u578b\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>1\u578b\u306f CANT1 \u907a\u4f1d\u5b50\u30012\u578b\u306f XYLT1 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u8d77\u3053\u308a\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u4f4e\u8eab\u9577\u3084\u95a2\u7bc0\u306e\u3086\u308b\u3055\u306f\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u304c\u30012\u578b\u3067\u306f\u624b\u306e\u6307\u306e\u9aa8\u306e\u7279\u5fb4\u7684\u306a\u5909\u5316\u304c\u76ee\u7acb\u305f\u306a\u3044\u50be\u5411\u304c\u3042\u308a\u3001\u4e00\u90e8\u3067\u767a\u9054\u306e\u9045\u308c\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3069\u3061\u3089\u306e\u578b\u304b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u304b\u3081\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u77e5\u80fd\u306e\u767a\u9054\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u767a\u9054\u306e\u9045\u308c\u304c\u307f\u3089\u308c\u308b\u304a\u5b50\u3055\u307e\u3082\u3044\u307e\u3059\u304c\u3001\u7a0b\u5ea6\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u65e9\u3044\u6642\u671f\u304b\u3089\u767a\u9054\u306e\u69d8\u5b50\u3092\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u7642\u80b2\u306a\u3069\u306e\u652f\u63f4\u306b\u3064\u306a\u3052\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u307e\u306e\u529b\u3092\u4f38\u3070\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\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>Bui C, Huber C, Tuysuz B, et al. XYLT1 mutations in Desbuquois dysplasia type 2. <em>Am J Hum Genet<\/em>. 2014;94(3):405-414.<\/li>\n\n\n\n<li>LaCroix AJ, Stabley D, Sahraoui R, et al. GGC repeat expansion and exon 1 methylation of XYLT1 is a common pathogenic variant in Baratela-Scott syndrome. <em>Am J Hum Genet<\/em>. 2019;104(1):35-44.<\/li>\n\n\n\n<li>Huber C, Oul\u00e8s B, Bertoli M, et al. Identification of CANT1 mutations in Desbuquois dysplasia. <em>Am J Hum Genet<\/em>. 2009;85(5):706-710.<\/li>\n\n\n\n<li>Mortier GR, Cohn DH, Cormier-Daire V, et al. Nosology and classification of genetic skeletal disorders: 2019 revision. <em>Am J Med Genet A<\/em>. 2019;179(12):2393-2419.<\/li>\n\n\n\n<li>OMIM #615777 Desbuquois dysplasia 2; DBQD2. 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-147916","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\/147916","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\/147916\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147916"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}