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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>BBS9<\/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>\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u306f<strong>\u975e\u904b\u52d5\u6027\u4e00\u6b21\u7e4a\u6bdb\u306e\u6a5f\u80fd\u969c\u5bb3\u306b\u3088\u308b\u4ee3\u8868\u7684\u306a\u7e4a\u6bdb\u75c5\uff08ciliopathy\uff09<\/strong>\u3067\u3042\u308b\u3002\u4e2d\u5fc3\u3068\u306a\u308b\u5206\u5b50\u88c5\u7f6e\u304cBBSome\uff08BBS1\u30012\u30014\u30015\u30017\u30018\/TTC8\u30019\u300118\/BBIP1\u306e8\u91cf\u4f53\uff09\u3067\u3001\u7e4a\u6bdb\u5185\u306e\u819c\u305f\u3093\u3071\u304f\u8cea\uff08\u30bd\u30de\u30c8\u30b9\u30bf\u30c1\u30f3\u53d7\u5bb9\u4f533\u3001MCHR1\u3001Smoothened\u3001\u30ec\u30d7\u30c1\u30f3\u53d7\u5bb9\u4f53\u30b7\u30b0\u30ca\u30eb\u95a2\u9023\u5206\u5b50\u306a\u3069\uff09\u306e<strong>\u7e4a\u6bdb\u3078\u306e\u51fa\u5165\u308a\u3092\u9078\u5225\u3059\u308b\u88ab\u8986\u8907\u5408\u4f53\u3068\u3057\u3066\u6a5f\u80fd\u3059\u308b<\/strong>\u3002ARL6\uff08BBS3\uff09\u306fBBSome\u3092\u819c\u3078\u52d5\u54e1\u3057\u3001BBS6\u30fbBBS10\u30fbBBS12\u306f\u30b7\u30e3\u30da\u30ed\u30cb\u30f3\u69d8\u8907\u5408\u4f53\u3068\u3057\u3066BBSome\u306e\u7d44\u307f\u7acb\u3066\u3092\u62c5\u3046\u3002<\/p>\n\n\n<p><strong>BBS9<\/strong>\uff08PTHB1\u30017p14.3\uff09\u306f\u526f\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u5fdc\u7b54\u6027\u907a\u4f1d\u5b50\u3068\u3057\u3066\u540c\u5b9a\u3055\u308c\u305f\u7d4c\u7def\u3092\u3082\u3064BBSome\u30b3\u30a2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3067\u3042\u308b\u3002\u672c\u907a\u4f1d\u5b50\u306f<strong>\u30b2\u30ce\u30e0\u4e0a\u306e\u30b5\u30a4\u30ba\u304c\u5927\u304d\u304f\u3001\u30a8\u30af\u30bd\u30f3\u30ec\u30d9\u30eb\u306e\u5927\u6b20\u5931\u304c\u539f\u56e0\u3068\u306a\u308b\u983b\u5ea6\u304c\u9ad8\u3044<\/strong>\u305f\u3081\u3001\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u3067\u4e00\u65b9\u306e\u30a2\u30ec\u30eb\u3057\u304b\u540c\u5b9a\u3055\u308c\u306a\u3044\u75c7\u4f8b\u3067\u306f<strong>\u30b3\u30d4\u30fc\u6570\u5909\u5316\uff08CNV\uff09\u89e3\u6790\u306e\u8ffd\u52a0\u304c\u5fc5\u8981<\/strong>\u3067\u3042\u308b\u3002<\/p>\n\n\n<p>\u9451\u5225\u8a3a\u65ad\u3068\u3057\u3066\u306f\u3001<strong>\u30a2\u30eb\u30b9\u30c8\u30ec\u30e0\u75c7\u5019\u7fa4\uff08<em>ALMS1<\/em>\uff1a\u80a5\u6e80\u30fb\u7db2\u819c\u5909\u6027\u30fb\u96e3\u8074\u3092\u4f34\u3046\u304c\u591a\u6307\u75c7\u3092\u6b20\u304f\uff09<\/strong>\u3001\u30de\u30c3\u30ad\u30e5\u30fc\u30b8\u30c3\u30af\u30fb\u30ab\u30a6\u30d5\u30de\u30f3\u75c7\u5019\u7fa4\uff08<em>MKKS<\/em>\uff1aBBS6\u3068\u540c\u4e00\u907a\u4f1d\u5b50\u3067\u3001\u6c34\u816b\u6027\u81a3\u30fb\u591a\u6307\u75c7\u30fb\u5fc3\u75be\u60a3\uff09\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u3001\u30cd\u30d5\u30ed\u30f3\u7646\u95a2\u9023\u75be\u60a3\u306a\u3069\u306e\u7e4a\u6bdb\u75c5\u7fa4\u304c\u6319\u304c\u308b\u3002<strong>\u4e73\u5150\u671f\u306b\u306fBBS\u3068MKS\u306e\u81e8\u5e8a\u7684\u533a\u5225\u304c\u96e3\u3057\u304f\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u3068\u306a\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. \u6b27\u7c73\u3067\u306f10\u4e07\u4eba\u304b\u308916\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u3055\u308c\u3001\u65e5\u672c\u3092\u542b\u3080\u30a2\u30b8\u30a2\u3067\u306f\u3055\u3089\u306b\u307e\u308c\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u3001\u8fd1\u89aa\u5a5a\u306e\u591a\u3044\u96c6\u56e3\u3067\u306f\u983b\u5ea6\u304c\u9ad8\u304f\u306a\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u76ee\u306e\u75c7\u72b6\u306f\u3044\u3064\u3054\u308d\u51fa\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u307e\u305a\u6697\u3044\u3068\u3053\u308d\u3067\u898b\u3048\u306b\u304f\u304f\u306a\u308a\u3001\u591a\u304f\u306f\u5b66\u7ae5\u671f\uff087\u301c8\u6b73\u3054\u308d\uff09\u306b\u6c17\u3065\u304b\u308c\u307e\u3059\u3002\u305d\u306e\u5f8c\u3001\u8996\u91ce\u304c\u72ed\u304f\u306a\u308a\u300110\u4ee3\u304b\u308920\u4ee3\u306b\u304b\u3051\u3066\u8996\u529b\u304c\u4f4e\u4e0b\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u65e9\u3044\u6bb5\u968e\u304b\u3089\u3001\u62e1\u5927\u8aad\u66f8\u5668\u3084\u5c31\u5b66\u74b0\u5883\u306e\u8abf\u6574\u306a\u3069\u306e\u652f\u63f4\u3092\u59cb\u3081\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u77e5\u7684\u306a\u767a\u9054\u306f\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u5b66\u7fd2\u306e\u56f0\u96e3\u306f\u3088\u304f\u307f\u3089\u308c\u307e\u3059\u304c\u3001<strong>\u7a0b\u5ea6\u306b\u306f\u5927\u304d\u306a\u5e45\u304c\u3042\u308a\u3001\u77e5\u7684\u767a\u9054\u304c\u6b63\u5e38\u7bc4\u56f2\u306e\u65b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093<\/strong>\u3002\u76ee\u304c\u898b\u3048\u306b\u304f\u3044\u3053\u3068\u304c\u5b66\u7fd2\u306e\u59a8\u3052\u306b\u306a\u3063\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308b\u305f\u3081\u3001\u8996\u899a\u306e\u652f\u63f4\u3068\u3042\u308f\u305b\u3066\u8a55\u4fa1\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u5b50\u691c\u67fb\u3067\u7247\u65b9\u3057\u304b\u898b\u3064\u304b\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u907a\u4f1d\u5b50\u3067\u306f\u3001\u307e\u3068\u307e\u3063\u305f\u7bc4\u56f2\u304c\u5931\u308f\u308c\u308b\u30bf\u30a4\u30d7\u306e\u5909\u5316\u304c\u8d77\u3053\u308a\u3084\u3059\u304f\u3001\u901a\u5e38\u306e\u691c\u67fb\u3067\u306f\u898b\u3064\u304b\u3089\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8ffd\u52a0\u306e\u89e3\u6790\u3067\u78ba\u8a8d\u3067\u304d\u308b\u5834\u5408\u304c\u3042\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\u3054\u304f\u4e00\u90e8\u306e\u5bb6\u7cfb\u3067\u306f3\u3064\u76ee\u306e\u5909\u5316\u304c\u75c7\u72b6\u306b\u5f71\u97ff\u3059\u308b\u3068\u3044\u3046\u5831\u544a\u3082\u3042\u308b\u305f\u3081\u3001\u6b63\u78ba\u306a\u898b\u901a\u3057\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u78ba\u8a8d\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>Forsythe E, Beales PL. Bardet-Biedl syndrome. <em>Eur J Hum Genet<\/em>. 2013;21(1):8-13.<\/li>\n\n\n\n<li>Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. <em>J Med Genet<\/em>. 1999;36(6):437-446.<\/li>\n\n\n\n<li>Nachury MV. The molecular machines that traffic signaling receptors into and out of cilia. <em>Curr Opin Cell Biol<\/em>. 2018;51:124-131.<\/li>\n\n\n\n<li>Nishimura DY, Swiderski RE, Searby CC, et al. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. <em>Am J Hum Genet<\/em>. 2005;77(6):1021-1033.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136919","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\/136919","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\/136919\/revisions"}],"predecessor-version":[{"id":137237,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136919\/revisions\/137237"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136919"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}