{"id":147349,"date":"2026-11-03T03:46:12","date_gmt":"2026-11-02T18:46:12","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/epidermolysis-bullosa-junctional-4-intermediate-col17a1\/"},"modified":"2026-11-03T03:46:12","modified_gmt":"2026-11-02T18:46:12","slug":"epidermolysis-bullosa-junctional-4-intermediate-col17a1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/epidermolysis-bullosa-junctional-4-intermediate-col17a1\/","title":{"rendered":"\u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c74\u578b\uff08\u4e2d\u9593\u578b\uff09"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c74\u578b\uff08\u4e2d\u9593\u578b\uff09\u306f\u3001<strong>\u76ae\u819a\u306e\u8868\u76ae\u3068\u771f\u76ae\u3092\u3064\u306a\u304e\u3068\u3081\u308b\u300c\u63a5\u5408\u90e8\u300d\u304c\u5f31\u3044\u305f\u3081\u306b\u3001\u8efd\u3044\u6469\u64e6\u3084\u3051\u304c\u3067\u76ae\u819a\u306b\u6c34\u3076\u304f\u308c\uff08\u6c34\u75b1\uff09\u3084\u305f\u3060\u308c\uff08\u3073\u3089\u3093\uff09\u304c\u3067\u304d\u3084\u3059\u304f\u306a\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>COL17A1<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c7\u306e\u306a\u304b\u3067\u306f<strong>\u300c\u4e2d\u9593\u578b\u300d\u3068\u547c\u3070\u308c\u308b\u6bd4\u8f03\u7684\u304a\u3060\u3084\u304b\u306a\u30bf\u30a4\u30d7<\/strong>\u3067\u3001\u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u5168\u8eab\u306b\u6c34\u75b1\u304c\u3067\u304d\u307e\u3059\u304c\u3001<strong>\u591a\u304f\u306e\u65b9\u306f\u6210\u4eba\u3057\u3001\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059<\/strong>\u3002\u4e00\u65b9\u3067\u3001<strong>\u9aea\u306e\u6bdb\u304c\u8584\u304f\u306a\u308b\uff08\u8131\u6bdb\uff09\u3001\u722a\u306e\u5909\u5f62\u3084\u8131\u843d\u3001\u6b6f\u306e\u30a8\u30ca\u30e1\u30eb\u8cea\u306e\u5f62\u6210\u4e0d\u5168<\/strong>\u304c\u76ee\u7acb\u3064\u3053\u3068\u304c\u3053\u306e\u578b\u306e\u7279\u5fb4\u3067\u3059\u3002\u304b\u3064\u3066\u306f\u300c\u6c4e\u767a\u6027\u840e\u7e2e\u6027\u826f\u6027\u8868\u76ae\u6c34\u75b1\u75c7\u300d\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3057\u305f\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c7\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u3044\u304f\u3064\u304b\u306e\u578b\u306b\u5206\u304b\u308c\u307e\u3059\u3002<strong>\u30e9\u30df\u30cb\u30f3332\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u306e\u907a\u4f1d\u5b50\uff08LAMA3\u30fbLAMB3\u30fbLAMC2\uff09\u304c\u307e\u3063\u305f\u304f\u306f\u305f\u3089\u304b\u306a\u3044\u91cd\u75c7\u578b\u3067\u306f\u3001\u4e73\u5150\u671f\u306b\u547d\u306b\u95a2\u308f\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u306b\u5bfe\u3057\u3001COL17A1 \u306b\u3088\u308b4\u578b\u306f\u4e2d\u9593\u578b\u3067\u3001\u751f\u547d\u306e\u898b\u901a\u3057\u306f\u6bd4\u8f03\u7684\u826f\u597d\u3067\u3059\u3002<\/strong>\u307e\u305f\u3001COL17A1 \u907a\u4f1d\u5b50\u306e\u7247\u65b9\u3060\u3051\u306e\u5909\u5316\u306f\u3001\u89d2\u819c\u306e\u305f\u3060\u308c\u3092\u304f\u308a\u8fd4\u3059\u76ee\u306e\u75c5\u6c17\u3084\u3001\u6b6f\u306e\u30a8\u30ca\u30e1\u30eb\u8cea\u306e\u5c0f\u3055\u306a\u304f\u307c\u307f\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306f4\u578b\u3068\u306f\u5225\u306e\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>COL17A1<\/strong> \u306f\u3001<strong>17\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\uff08BP180 \u3068\u3082\u547c\u3070\u308c\u307e\u3059\uff09<\/strong>\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">17\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u306f\u3001\u8868\u76ae\u306e\u3044\u3061\u3070\u3093\u4e0b\u306b\u3042\u308b\u7d30\u80de\u304b\u3089\u771f\u76ae\u306e\u5074\u3078\u7a81\u304d\u51fa\u3057\u305f<strong>\u300c\u7559\u3081\u91d1\u300d\u306e\u3088\u3046\u306a\u69cb\u9020\uff08\u30d8\u30df\u30c7\u30b9\u30e2\u30bd\u30fc\u30e0\uff09\u306e\u4e00\u90e8<\/strong>\u3067\u3001<strong>\u8868\u76ae\u3092\u305d\u306e\u4e0b\u306e\u57fa\u5e95\u819c\u306b\u3057\u3063\u304b\u308a\u56fa\u5b9a\u3059\u308b\u5f79\u5272<\/strong>\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u305f\u3093\u3071\u304f\u8cea\u304c\u3064\u304f\u3089\u308c\u306a\u3044\u3001\u307e\u305f\u306f\u6b63\u3057\u304f\u306f\u305f\u3089\u304b\u306a\u3044\u3068\u3001<strong>\u8868\u76ae\u3068\u771f\u76ae\u306e\u5883\u76ee\uff08\u900f\u660e\u5e2f\uff09\u3067\u76ae\u819a\u304c\u306f\u304c\u308c\u3084\u3059\u304f\u306a\u308a<\/strong>\u3001\u3053\u3059\u308c\u305f\u3060\u3051\u3067\u6c34\u75b1\u304c\u3067\u304d\u307e\u3059\u300217\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u306f<strong>\u6bdb\u6839\u3084\u3001\u6b6f\u306e\u30a8\u30ca\u30e1\u30eb\u8cea\u3092\u3064\u304f\u308b\u7d30\u80de<\/strong>\u3067\u3082\u306f\u305f\u3089\u3044\u3066\u3044\u308b\u305f\u3081\u3001\u9aea\u3084\u6b6f\u306b\u3082\u75c7\u72b6\u304c\u51fa\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u304a\u7236\u3055\u307e\u30fb\u304a\u6bcd\u3055\u307e\u304c\u305d\u308c\u305e\u308c\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u3067\u3001\u305d\u306e\u4e21\u65b9\u304b\u3089\u5909\u5316\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3057\u307e\u3059\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff09\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u306e\u5168\u8eab\u306e\u6c34\u75b1\u30fb\u3073\u3089\u3093<\/strong>\uff1a\u624b\u8db3\u3001\u3072\u3058\u30fb\u3072\u3056\u306a\u3069\u3001\u3053\u3059\u308c\u3084\u3059\u3044\u5834\u6240\u306b\u591a\u304f\u307f\u3089\u308c\u307e\u3059<\/li>\n\n\n\n<li><strong>\u840e\u7e2e\u6027\u306e\u7622\u75d5<\/strong>\uff1a\u6c34\u75b1\u304c\u6cbb\u3063\u305f\u3042\u3068\u306b\u3001\u8584\u304f\u3078\u3053\u3093\u3060\u8de1\u3084\u8272\u306e\u5909\u5316\u304c\u6b8b\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8131\u6bdb<\/strong>\uff1a<strong>\u982d\u9aea\u304c\u307e\u3070\u3089\u306b\u306a\u308a\u3001\u5e74\u9f62\u3068\u3068\u3082\u306b\u76ee\u7acb\u3063\u3066\u304f\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u3053\u306e\u578b\u306e\u7279\u5fb4\u3067\u3059<\/strong>\u3002\u307e\u3086\u6bdb\u30fb\u307e\u3064\u6bdb\u30fb\u308f\u304d\u6bdb\u306a\u3069\u304c\u5c11\u306a\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u722a\u306e\u5909\u5f62\u30fb\u8131\u843d<\/strong>\uff1a\u722a\u304c\u539a\u304f\u5909\u5f62\u3057\u305f\u308a\u3001\u306a\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6b6f\u306e\u30a8\u30ca\u30e1\u30eb\u8cea\u306e\u5f62\u6210\u4e0d\u5168<\/strong>\uff1a\u30a8\u30ca\u30e1\u30eb\u8cea\u306b\u5c0f\u3055\u306a\u304f\u307c\u307f\u3084\u8584\u3044\u90e8\u5206\u304c\u3067\u304d\u3001<strong>\u3080\u3057\u6b6f\u306b\u306a\u308a\u3084\u3059\u304f\u306a\u308a\u307e\u3059<\/strong><\/li>\n\n\n\n<li>\u53e3\u306e\u4e2d\u3084\u76ee\uff08\u89d2\u819c\uff09\u306e\u305f\u3060\u308c\uff1a\u307f\u3089\u308c\u3066\u3082\u6bd4\u8f03\u7684\u8efd\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059<\/li>\n\n\n\n<li><strong>\u6210\u4eba\u4ee5\u964d\u306e\u76ae\u819a\u304c\u3093\uff08\u6709\u68d8\u7d30\u80de\u304c\u3093\uff09<\/strong>\uff1a\u9577\u304f\u6cbb\u3089\u306a\u3044\u50b7\u304b\u3089\u751f\u3058\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u304c\u52e7\u3081\u3089\u308c\u307e\u3059<\/li>\n\n\n\n<li>\u4e00\u90e8\u306e\u65b9\u3067\u306f\u3001\u76ae\u819a\u306e\u4e00\u90e8\u304c\u81ea\u7136\u306b\u6c34\u75b1\u306e\u3067\u304d\u306b\u304f\u3044\u72b6\u614b\u306b\u306a\u308b<strong>\u300c\u5fa9\u5e30\u5909\u7570<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u300d<\/strong>\u304c\u307f\u3089\u308c\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u751f\u307e\u308c\u3066\u3059\u3050\u304b\u3089\u306e\u76ae\u819a\u306e\u6c34\u75b1\u3084\u3073\u3089\u3093<\/strong>\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002<strong>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u76ae\u819a\u306e\u4e00\u90e8\u3092\u63a1\u53d6\u3057\u3066\u8abf\u3079\u308b<strong>\u76ae\u819a\u751f\u691c<\/strong>\uff08\u86cd\u5149\u6297\u4f53\u6cd5\u306b\u3088\u308b\u6297\u539f\u306e\u691c\u67fb\u3084\u96fb\u5b50\u9855\u5fae\u93e1\uff09\u3067\u3001<strong>\u8868\u76ae\u3068\u771f\u76ae\u306e\u5883\u76ee\u306e\u900f\u660e\u5e2f\u3067\u76ae\u819a\u304c\u88c2\u3051\u3066\u3044\u308b\u3053\u3068\u300117\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u6e1b\u3063\u3066\u3044\u308b\u3053\u3068<\/strong>\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c74\u578b\u3067\u306f <strong>COL17A1<\/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>\u8868\u76ae\u6c34\u75b1\u75c7\u306f\u578b\u306b\u3088\u3063\u3066\u898b\u901a\u3057\u3084\u907a\u4f1d\u5f62\u5f0f\u304c\u5927\u304d\u304f\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><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001<strong>\u76ae\u819a\u3092\u5b88\u308a\u3001\u50b7\u3092\u65e9\u304f\u6cbb\u3057\u3001\u5408\u4f75\u75c7\u3092\u9632\u3050\u3053\u3068<\/strong>\u3067\u3059\u3002<strong>\u76ae\u819a\u79d1\u30fb\u5c0f\u5150\u79d1\u30fb\u6b6f\u79d1\u306a\u3069\u304c\u9023\u643a\u3057\u3066\u3001\u9577\u304f\u652f\u3048\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5275\u50b7\u30b1\u30a2<\/strong>\uff1a\u6c34\u75b1\u306f\u6e05\u6f54\u306a\u91dd\u3067\u4e2d\u8eab\u3092\u629c\u304d\u3001\u76ae\u819a\u306b\u304f\u3063\u3064\u304d\u306b\u304f\u3044\u88ab\u8986\u6750\u3067\u4fdd\u8b77\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6469\u64e6\u3092\u907f\u3051\u308b\u5de5\u592b<\/strong>\uff1a\u3084\u308f\u3089\u304b\u3044\u8863\u985e\u3084\u9774\u306e\u9078\u3073\u65b9\u3001\u3060\u3063\u3053\u306e\u3057\u304b\u305f\u306a\u3069\u3001\u65e5\u5e38\u751f\u6d3b\u3067\u306e\u6ce8\u610f\u3092\u3054\u8aac\u660e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u75c7\u306e\u4e88\u9632\u3068\u6cbb\u7642<\/strong><\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u3067\u306e\u5b9a\u671f\u7684\u306a\u7ba1\u7406<\/strong>\uff1a\u30a8\u30ca\u30e1\u30eb\u8cea\u304c\u5f31\u3044\u305f\u3081\u3001\u30d5\u30c3\u7d20\u5857\u5e03\u3084\u65e9\u3081\u306e\u3080\u3057\u6b6f\u6cbb\u7642\u304c\u5927\u5207\u3067\u3059<\/li>\n\n\n\n<li><strong>\u8131\u6bdb\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u30a6\u30a3\u30c3\u30b0\u306e\u4f7f\u7528\u306a\u3069\u3001\u898b\u305f\u76ee\u306e\u60a9\u307f\u306b\u914d\u616e\u3057\u305f\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u304c\u3093\u306e\u5b9a\u671f\u30c1\u30a7\u30c3\u30af<\/strong>\uff1a\u6210\u4eba\u4ee5\u964d\u306f\u3001\u6cbb\u308a\u306b\u304f\u3044\u50b7\u304c\u306a\u3044\u304b\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u7d30\u80de\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u307e\u3060\u7814\u7a76\u6bb5\u968e\u3067\u3059<\/li>\n\n\n\n<li><strong>\u3054\u672c\u4eba\u30fb\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>COL17A1<\/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>COL17A1<\/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>COL17A1<\/strong> \u306f<strong>XVII\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\uff08BP180\uff0fBPAG2\uff09<\/strong>\u3092\u30b3\u30fc\u30c9\u3059\u308b\u3002II\u578b\u819c\u8cab\u901a\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3001\u7d30\u80de\u5185\u30c9\u30e1\u30a4\u30f3\u306f\u30d8\u30df\u30c7\u30b9\u30e2\u30bd\u30fc\u30e0\u5185\u3067BP230\u30fb\u30d7\u30ec\u30af\u30c1\u30f3\u30fb\u30a4\u30f3\u30c6\u30b0\u30ea\u30f3\u03b24\u3068\u7d50\u5408\u3057\u3001\u7d30\u80de\u5916\u306e\u30b3\u30e9\u30fc\u30b2\u30f3\u69d8\u30c9\u30e1\u30a4\u30f3\u306f\u900f\u660e\u5e2f\u3092\u6a2a\u5207\u3063\u3066\u30e9\u30df\u30cb\u30f3332\u3068\u76f8\u4e92\u4f5c\u7528\u3059\u308b\u3002<strong>\u30d8\u30df\u30c7\u30b9\u30e2\u30bd\u30fc\u30e0\u3068\u57fa\u5e95\u819c\u306e\u63a5\u7740\u306e\u8981\u3068\u306a\u308b\u5206\u5b50\u3067\u3042\u308a\u3001\u6b20\u640d\u3059\u308b\u3068\u900f\u660e\u5e2f\u3067\u8868\u76ae\u4e0b\u306e\u88c2\u9699\u304c\u751f\u3058\u308b<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u4e21\u30a2\u30ec\u30eb\u306e\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\u3067XVII\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u304c\u6b20\u640d\u3059\u308b\u4f8b\u3067\u306f\u3001\u5168\u8eab\u306e\u6c34\u75b1\u3001\u3073\u307e\u3093\u6027\u306e\u7622\u75d5\u6027\u8131\u6bdb\u3001\u722a\u7532\u306e\u6b20\u640d\u3001\u30a8\u30ca\u30e1\u30eb\u8cea\u4f4e\u5f62\u6210\u304c\u305d\u308d\u3046\u5178\u578b\u50cf<\/strong>\u3092\u3068\u308b\u3002\u30df\u30b9\u30bb\u30f3\u30b9\u3084\u30b9\u30d7\u30e9\u30a4\u30b9\u5909\u7570\u3067\u86cb\u767d\u304c\u4e00\u90e8\u6b8b\u308b\u4f8b\u3067\u306f\u3001\u3088\u308a\u8efd\u75c7\uff08\u9650\u5c40\u6027\uff09\u3068\u306a\u308b\u50be\u5411\u304c\u3042\u308b\u3002<strong>\u8868\u76ae\u6c34\u75b1\u75c7\u306b\u304a\u3051\u308b\u5fa9\u5e30\u5909\u7570<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306f\u672c\u907a\u4f1d\u5b50\u3067\u521d\u3081\u3066\u5206\u5b50\u30ec\u30d9\u30eb\u3067\u793a\u3055\u308c\uff08Jonkman \u3089\u30011997\u5e74\uff09<\/strong>\u3001\u6b63\u5e38\u5316\u3057\u305f\u76ae\u819a\u3092\u5229\u7528\u3059\u308b\u7d30\u80de\u6cbb\u7642\u306e\u7814\u7a76\u306b\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u3002\u6210\u4eba\u671f\u306b\u306f\u6709\u68d8\u7d30\u80de\u764c\u306e\u767a\u751f\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u9577\u671f\u306e\u7d4c\u904e\u89b3\u5bdf\u3092\u8981\u3059\u308b\u3002<strong>\u30d8\u30c6\u30ed\u63a5\u5408\u306e\u4fdd\u56e0\u8005\u306b\u30a8\u30ca\u30e1\u30eb\u8cea\u306e\u5c0f\u9665\u51f9\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u7279\u5b9a\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u5909\u7570\u306f\u9855\u6027\u907a\u4f1d\u306e\u89d2\u819c\u4e0a\u76ae\u518d\u767a\u6027\u3073\u3089\u3093\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3092\u8d77\u3053\u3059<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30e9\u30df\u30cb\u30f3332\u6b20\u640d\u306b\u3088\u308b\u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c7\u91cd\u75c7\u578b\uff08<em>LAMA3<\/em>\u30fb<em>LAMB3<\/em>\u30fb<em>LAMC2<\/em>\u3001\u4e73\u5150\u671f\u81f4\u6b7b\u304c\u591a\u3044\uff09\u3001\u30e9\u30df\u30cb\u30f3332\u306e\u90e8\u5206\u6b20\u640d\u306b\u3088\u308b\u4e2d\u9593\u578b\u3001\u5e7d\u9580\u9589\u9396\u3092\u4f34\u3046\u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c7\uff08<em>ITGB4<\/em>\u30fb<em>ITGA6<\/em>\uff09\u3001\u5358\u7d14\u578b\u8868\u76ae\u6c34\u75b1\u75c7\uff08<em>KRT5<\/em>\u30fb<em>KRT14<\/em>\u3001\u591a\u304f\u306f\u9855\u6027\uff09\u3001\u6804\u990a\u969c\u5bb3\u578b\u8868\u76ae\u6c34\u75b1\u75c7\uff08<em>COL7A1<\/em>\u3001\u9855\u6027\u30fb\u6f5c\u6027\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u65b0\u751f\u5150\u671f\u306b\u306f\u81e8\u5e8a\u50cf\u306e\u91cd\u306a\u308a\u304c\u5927\u304d\u304f\u3001\u6297\u539f\u30de\u30c3\u30d4\u30f3\u30b0\u3068\u907a\u4f1d\u5b50\u8a3a\u65ad\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u75c5\u578b\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u304c\u3001\u4e88\u5f8c\u306e\u8aac\u660e\u3068\u6b21\u5b50\u518d\u767a\u7387\uff08\u6f5c\u602725%\u3001\u9855\u6027\u306e\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u306f\u307b\u307c0%\uff09\u306e\u63d0\u793a\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>\u8868\u76ae\u6c34\u75b1\u75c7\u306b\u306f\u9855\u6027\u907a\u4f1d\u306e\u578b\u3084\u3001\u65b0\u305f\u306b\u8d77\u304d\u305f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u578b\u3082\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306e\u518d\u767a\u7387\u306f\u7570\u306a\u308a\u307e\u3059\u3002<strong>\u518d\u767a\u7387\u304c\u5927\u304d\u304f\u7570\u306a\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\u306f\u307b\u3068\u3093\u3069\u5206\u304b\u308a\u307e\u305b\u3093\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3084\u3054\u5bb6\u65cf\u3067\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u78ba\u5b9a\u3057\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. \u5927\u4eba\u306b\u306a\u308b\u307e\u3067\u5143\u6c17\u306b\u904e\u3054\u305b\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u578b\u306f\u4e2d\u9593\u578b\u3067\u3001\u591a\u304f\u306e\u65b9\u304c\u6210\u4eba\u3057\u3001\u5b66\u6821\u751f\u6d3b\u3084\u4ed5\u4e8b\u3092\u7d9a\u3051\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u6c34\u75b1\u306f\u751f\u6daf\u7d9a\u304f\u3053\u3068\u304c\u591a\u304f\u3001\u8131\u6bdb\u3084\u6b6f\u306e\u30b1\u30a2\u3001\u6210\u4eba\u4ee5\u964d\u306e\u76ae\u819a\u304c\u3093\u306e\u30c1\u30a7\u30c3\u30af\u306a\u3069\u3001\u9577\u304f\u4ed8\u304d\u5408\u3063\u3066\u3044\u304f\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u91cd\u3044\u578b\u306e\u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c7\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u91cd\u3044\u578b\u306f\u30e9\u30df\u30cb\u30f3332\u306e\u907a\u4f1d\u5b50\u304c\u307e\u3063\u305f\u304f\u306f\u305f\u3089\u304b\u306a\u3044\u3053\u3068\u3067\u8d77\u3053\u308a\u3001\u4e73\u5150\u671f\u306b\u547d\u306b\u95a2\u308f\u308b\u3053\u3068\u304c\u591a\u3044\u75c5\u6c17\u3067\u3059\u3002<\/strong>4\u578b\u306f COL17A1 \u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3001\u76ae\u819a\u306e\u75c7\u72b6\u306b\u52a0\u3048\u3066<strong>\u9aea\u30fb\u722a\u30fb\u6b6f\u306e\u75c7\u72b6\u304c\u76ee\u7acb\u3064<\/strong>\u4e00\u65b9\u3001\u751f\u547d\u306e\u898b\u901a\u3057\u306f\u6bd4\u8f03\u7684\u826f\u597d\u3067\u3059\u3002\u578b\u306e\u533a\u5225\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5f79\u7acb\u3061\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>Pfendner EG, Lucky AW. Junctional Epidermolysis Bullosa. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>McGrath JA, Gatalica B, Christiano AM, et al. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. <em>Nat Genet<\/em>. 1995;11(1):83-86.<\/li>\n\n\n\n<li>Jonkman MF, Scheffer H, Stulp R, et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. <em>Cell<\/em>. 1997;88(4):543-551.<\/li>\n\n\n\n<li>Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. <em>J Am Acad Dermatol<\/em>. 2014;70(6):1103-1126.<\/li>\n\n\n\n<li>Has C, Bauer JW, Bodemer C, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. <em>Br J Dermatol<\/em>. 2020;183(4):614-627.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147349","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\/147349","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\/147349\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147349"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}