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class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p><strong>B3GALNT2<\/strong> 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class=\"wp-block-list\">\n<li><strong>\u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u306e\u5f37\u3044\u7b4b\u529b\u4f4e\u4e0b\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09<\/strong>\u3001\u54fa\u4e73\u306e\u5f31\u3055<\/li>\n\n\n\n<li>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\uff1a<strong>\u304a\u5ea7\u308a\u307e\u3067\u306f\u3067\u304d\u3066\u3082\u6b69\u884c\u306b\u81f3\u3089\u306a\u3044\u3053\u3068\u304c\u591a\u3044<\/strong><\/li>\n\n\n\n<li><strong>\u8133\u306e\u5f62\u306e\u7570\u5e38<\/strong>\uff1a\u6577\u77f3\u69d8\u6ed1\u8133\u75c7\u3001\u5c0f\u8133\u30fb\u8133\u5e79\u306e\u4f4e\u5f62\u6210\u3001\u6c34\u982d\u75c7\u3001\u8133\u7624<\/li>\n\n\n\n<li><strong>\u76ee\u306e\u7570\u5e38<\/strong>\uff1a\u5f37\u3044\u8fd1\u8996\u3001\u5c0f\u773c\u7403\u3001\u767d\u5185\u969c\u3001\u7dd1\u5185\u969c\u3001\u7db2\u819c\u306e\u7570\u5f62\u6210<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u3001\u71b1\u306b\u4f34\u3046\u3051\u3044\u308c\u3093<\/li>\n\n\n\n<li>\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\uff08\u7a0b\u5ea6\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li><strong>\u95a2\u7bc0\u306e\u62d8\u7e2e<\/strong>\u3001\u810a\u67f1\u306e\u5909\u5f62<\/li>\n\n\n\n<li><strong>\u5fc3\u7b4b\u75c7\u3001\u547c\u5438\u306e\u7b4b\u529b\u4f4e\u4e0b<\/strong>\uff1a\u7d4c\u904e\u3068\u3068\u3082\u306b\u554f\u984c\u306b\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u8840\u6db2\u691c\u67fb\u3067<strong>CK\uff08\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff09\u304c\u8457\u3057\u304f\u9ad8\u304f\u306a\u308a\u307e\u3059<\/strong><\/li>\n\n\n<\/ul>\n\n\n<h2 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class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>B3GALNT2<\/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\u306e2\u3064\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>\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>B3GALNT2<\/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<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n<p>\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\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\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>\u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\u306f\u3001<strong>\u03b1-\u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30f3\u306eO-\u30de\u30f3\u30ce\u30fc\u30b9\u578b\u7cd6\u9396\uff08\u30b3\u30a2M3\uff09\u306e\u5408\u6210\u969c\u5bb3<\/strong>\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u75be\u60a3\u7fa4\u3067\u3042\u308b\u3002\u30b3\u30a2M3\u306f\u3001POMT1\/POMT2\u306b\u3088\u308bO-\u30de\u30f3\u30ce\u30fc\u30b9\u4ed8\u52a0\u306b\u59cb\u307e\u308a\u3001POMGNT2 \u2192 B3GALNT2 \u2192 POMK\uff08\u30de\u30f3\u30ce\u30fc\u30b96\u4f4d\u306e\u30ea\u30f3\u9178\u5316\uff09\u3092\u7d4c\u3066\u3001FKTN\u30fbFKRP\u304c<strong>\u30ea\u30d3\u30c8\u30fc\u30eb-5-\u30ea\u30f3\u9178\u30922\u6b8b\u57fa<\/strong>\u4ed8\u52a0\u3057\u3001RXYLT1\u30fbB4GAT1\u304c\u30ad\u30b7\u30ed\u30fc\u30b9-\u30b0\u30eb\u30af\u30ed\u30f3\u9178\u30d7\u30e9\u30a4\u30de\u30fc\u3092\u5f62\u6210\u3001\u6700\u5f8c\u306bLARGE1\u304c<strong>\u30de\u30c8\u30ea\u30b0\u30ea\u30ab\u30f3<\/strong>\u3092\u4f38\u9577\u3057\u3066\u5b8c\u6210\u3059\u308b\u3002\u3053\u306e\u30de\u30c8\u30ea\u30b0\u30ea\u30ab\u30f3\u304c\u30e9\u30df\u30cb\u30f3\u03b12\u9396\u306eLG\u30c9\u30e1\u30a4\u30f3\u3068\u7d50\u5408\u3057\u3001<strong>\u7b4b\u7dda\u7dad\u819c\u3068\u57fa\u5e95\u819c\u3092\u6a5f\u68b0\u7684\u306b\u9023\u7d50\u3059\u308b<\/strong>\u3002<\/p>\n\n\n<p><strong>B3GALNT2<\/strong>\uff081q42.3\uff09\u306f<strong>\u30b3\u30a2M3\u306eGlcNAc\u306b\u03b21,3\u7d50\u5408\u3067GalNAc\u3092\u4ed8\u52a0\u3059\u308b<\/strong>\u8ee2\u79fb\u9175\u7d20\u3067\u3001POMGNT2\u306e\u76f4\u4e0b\u6d41\u306b\u4f4d\u7f6e\u3059\u308b\u3002\u8868\u73fe\u578b\u306fWalker-Warburg\u75c7\u5019\u7fa4\u304b\u3089MDDGB11\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff09\u307e\u3067\u5e45\u304c\u3042\u308b\u3002<strong>\u8840\u6e05CK\u4e0a\u6607\u304c\u8efd\u5ea6\u306b\u3068\u3069\u307e\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3068\u3066\u3093\u304b\u3093\u304c\u524d\u666f\u306b\u7acb\u3064\u75c7\u4f8b<\/strong>\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u7b4b\u75c7\u72b6\u304c\u76ee\u7acb\u305f\u306a\u3044\u767a\u9054\u9045\u6ede\u4f8b\u3067\u3082\u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\u3092\u9451\u5225\u306b\u6b8b\u3059\u6839\u62e0\u3068\u306a\u3063\u3066\u3044\u308b\u3002<\/p>\n\n\n<p>\u81e8\u5e8a\u7684\u306b\u306f\u3001\u91cd\u75c7\u7aef\u306e<strong>Walker-Warburg\u75c7\u5019\u7fa4\uff08WWS\uff09<\/strong>\u3001\u4e2d\u9593\u578b\u306e<strong>\u7b4b\u773c\u8133\u75c5\uff08MEB\uff09<\/strong>\u3001\u65e5\u672c\u306b\u591a\u3044<strong>\u798f\u5c71\u578b\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08FCMD\uff09<\/strong>\u304c\u9023\u7d9a\u4f53\u3092\u306a\u3059\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u30e1\u30ed\u30b7\u30f3\u6b20\u640d\u578b\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08<em>LAMA2<\/em>\uff09\u3001\u30df\u30aa\u30b7\u30ea\u30f3\u95a2\u9023\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u5148\u5929\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u7fa4\u3001\u304a\u3088\u3073\u4ed6\u306e\u6577\u77f3\u69d8\u6ed1\u8133\u75c7\u3092\u304d\u305f\u3059\u75be\u60a3\u304c\u6319\u304c\u308b\u3002<strong>CK\u9ad8\u5024\u3092\u4f34\u3046\u6ed1\u8133\u75c7\u3092\u307f\u305f\u3089\u3001\u307e\u305a\u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\u3092\u8003\u3048\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. \u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\u5168\u4f53\u3067\u306f\u51fa\u751f10\u4e07\u4eba\u3042\u305f\u308a\u6570\u4eba\u3068\u3055\u308c\u307e\u3059\u3002<strong>\u65e5\u672c\u3067\u306f\u3001\u3053\u306e\u3046\u3061\u798f\u5c71\u578b\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08FKTN\u907a\u4f1d\u5b50\uff09\u304c\u5927\u90e8\u5206\u3092\u5360\u3081\u3001\u65e5\u672c\u4eba\u306e\u304a\u3088\u305d90\u4eba\u306b1\u4eba\u304c\u30ad\u30e3\u30ea\u30a2\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. A\u578b\u3067\u306f\u3001\u591a\u304f\u306e\u5834\u5408\u304a\u5ea7\u308a\u307e\u3067\u306f\u7372\u5f97\u3057\u307e\u3059\u304c\u3001\u6b69\u884c\u306b\u81f3\u3089\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u305f\u3060\u3057\u907a\u4f1d\u5b50\u3068\u5909\u5316\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u5e45\u304c\u3042\u308a\u3001\u6b69\u884c\u304c\u53ef\u80fd\u306a\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u7d9a\u3051\u306a\u304c\u3089\u3001\u305d\u306e\u65b9\u306b\u5408\u3063\u305f\u76ee\u6a19\u3092\u7acb\u3066\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. CK\u304c\u9ad8\u3044\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u3002\u4f55\u3092\u610f\u5473\u3057\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. CK\uff08\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff09\u306f\u7b4b\u8089\u306e\u7d30\u80de\u306e\u306a\u304b\u306b\u3042\u308b\u9175\u7d20\u3067\u3001\u7b4b\u8089\u306e\u7d30\u80de\u819c\u304c\u58ca\u308c\u308b\u3068\u8840\u6db2\u4e2d\u306b\u6f0f\u308c\u51fa\u3057\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u3067\u306f\u6570\u5343\u304b\u3089\u6570\u4e07\u307e\u3067\u9ad8\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u7b4b\u8089\u306e\u75c7\u72b6\u304c\u76ee\u7acb\u3061\u307e\u305b\u3093\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u3001\u7b4b\u8089\u306e\u75c7\u72b6\u304c\u8efd\u304f\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u3066\u3093\u304b\u3093\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8840\u6db2\u691c\u67fb\u3067CK\uff08\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff09\u3092\u78ba\u8a8d\u3059\u308b\u3068\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\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>A. \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\u4e0a\u306e\u304a\u5b50\u3055\u307e\u306e\u75c7\u72b6\u306e\u91cd\u3055\u306f\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u91cd\u3055\u3092\u5fc5\u305a\u3057\u3082\u4e88\u6e2c\u3057\u307e\u305b\u3093\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\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>Godfrey C, Foley AR, Clement E, Muntoni F. Dystroglycanopathies: coming into focus. <em>Curr Opin Genet Dev<\/em>. 2011;21(3):278-285.<\/li>\n\n\n\n<li>Endo T. Glycobiology of \u03b1-dystroglycan and muscular dystrophy. <em>J Biochem<\/em>. 2015;157(1):1-12.<\/li>\n\n\n\n<li>Yoshida-Moriguchi T, Campbell KP. Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane. <em>Glycobiology<\/em>. 2015;25(7):702-713.<\/li>\n\n\n\n<li>Stevens E, Carss KJ, Cirak S, et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of \u03b1-dystroglycan. <em>Am J Hum Genet<\/em>. 2013;92(3):354-365.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136931","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\/136931","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136931\/revisions"}],"predecessor-version":[{"id":137249,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136931\/revisions\/137249"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136931"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}