{"id":136674,"date":"2026-09-08T12:23:04","date_gmt":"2026-09-08T03:23:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136674"},"modified":"2026-09-08T12:23:04","modified_gmt":"2026-09-08T03:23:04","slug":"oculocutaneous-albinism-type-1-tyr","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/oculocutaneous-albinism-type-1-tyr\/","title":{"rendered":"\u773c\u76ae\u819a\u767d\u76ae\u75c71\u578b"},"content":{"rendered":"\n<h2 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<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\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u773c\u76ae\u819a\u767d\u76ae\u75c71\u578b\u306f <strong>TYR<\/strong>\uff0811q14.3\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002\u30c1\u30ed\u30b7\u30ca\u30fc\u30bc\u306f\u30c1\u30ed\u30b7\u30f3\u304b\u3089DOPA\u3001DOPA\u30ad\u30ce\u30f3\u3078\u306e\u5909\u63db\u3092\u89e6\u5a92\u3059\u308b\u30e1\u30e9\u30cb\u30f3\u5408\u6210\u306e\u5f8b\u901f\u9175\u7d20\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u5b8c\u5168\u6b20\u640d\u578b\uff08OCA1A\uff09\u3068\u90e8\u5206\u6b20\u640d\u578b\uff08OCA1B\u3001\u65e7\u79f0 yellow OCA\uff09\u306b\u5206\u3051\u3089\u308c\u308b\u3002OCA1B\u3067\u306f\u6e29\u5ea6\u611f\u53d7\u6027\u5909\u7570\uff08\u6e29\u5ea6\u306e\u4f4e\u3044\u56db\u80a2\u672b\u7aef\u3067\u306e\u307f\u8272\u7d20\u304c\u5f62\u6210\u3055\u308c\u308b\uff09\u3092\u793a\u3059\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u773c\u75c7\u72b6\u306e\u672c\u8cea\u306f<strong>\u7db2\u819c\u4e2d\u5fc3\u7aa9\u306e\u4f4e\u5f62\u6210\u3068\u3001\u8996\u795e\u7d4c\u306e\u7570\u5e38\u4ea4\u53c9<\/strong>\u3067\u3042\u308b\u3002\u30e1\u30e9\u30cb\u30f3\u306f\u80ce\u751f\u671f\u306e\u7db2\u819c\u767a\u9054\u306b\u5fc5\u8981\u3067\u3001\u305d\u306e\u6b20\u5982\u306b\u3088\u308a\u4e2d\u5fc3\u7aa9\u304c\u5f62\u6210\u3055\u308c\u305a\u3001\u8996\u529b\u306f\u77ef\u6b63\u3057\u3066\u30820.1\u301c0.3\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308b\u3002\u8996\u4ea4\u53c9\u3067\u306e\u4ea4\u53c9\u7dda\u7dad\u304c\u904e\u5270\u3068\u306a\u308a\u3001\u4e21\u773c\u8996\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u9451\u5225\u3068\u3057\u3066OCA2\uff08P\u907a\u4f1d\u5b50\uff09\u3001OCA3\uff08TYRP1\uff09\u3001OCA4\uff08SLC45A2\uff09\u306b\u52a0\u3048\u3001<strong>\u51fa\u8840\u50be\u5411\u3092\u4f34\u3046\u30d8\u30eb\u30de\u30f3\u30b9\u30ad\u30fc\u30fb\u30d1\u30c9\u30e9\u30c3\u30af\u75c7\u5019\u7fa4\u3001\u514d\u75ab\u4e0d\u5168\u3092\u4f34\u3046\u30c1\u30a7\u30c7\u30a3\u30a2\u30c3\u30af\u30fb\u6771\u75c7\u5019\u7fa4<\/strong>\u3092\u5fc5\u305a\u8003\u616e\u3059\u308b\u3002\u3053\u308c\u3089\u306f\u751f\u547d\u4e88\u5f8c\u306b\u95a2\u308f\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u308b\u9451\u5225\u304c\u91cd\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u8996\u529b\u306f\u3088\u304f\u306a\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u773c\u93e1\u3067\u77ef\u6b63\u3057\u3066\u30820.1\u301c0.3\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u30ed\u30fc\u30d3\u30b8\u30e7\u30f3\u30b1\u30a2\uff08\u62e1\u5927\u8aad\u66f8\u5668\u3084\u906e\u5149\u773c\u93e1\u306a\u3069\uff09\u3067\u3001\u751f\u6d3b\u306e\u3057\u3084\u3059\u3055\u3092\u9ad8\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u65e5\u713c\u3051\u6b62\u3081\u306f\u3069\u306e\u304f\u3089\u3044\u5fc5\u8981\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u6bce\u65e5\u3001\u5c4b\u5916\u306b\u51fa\u308b\u3068\u304d\u306f\u5fc5\u305a\u4f7f\u3063\u3066\u304f\u3060\u3055\u3044\u3002\u76ae\u819a\u304c\u3093\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u305f\u3081\u3001\u5e3d\u5b50\u3084\u9577\u8896\u3082\u3042\u308f\u305b\u3066\u7fd2\u6163\u306b\u3057\u3066\u3044\u305f\u3060\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u77e5\u7684\u306a\u767a\u9054\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3042\u308a\u307e\u305b\u3093\u3002\u5bff\u547d\u306b\u3082\u5f71\u97ff\u3057\u307e\u305b\u3093\u3002\u8996\u529b\u3078\u306e\u914d\u616e\u304c\u3042\u308c\u3070\u3001\u901a\u5e38\u306e\u5b66\u6821\u751f\u6d3b\u3092\u9001\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6210\u9577\u3059\u308b\u3068\u8272\u304c\u3064\u3044\u3066\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>OCA1B<\/strong> \u3067\u306f\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u9aea\u3084\u76ae\u819a\u306b\u5c11\u3057\u8272\u304c\u3064\u3044\u3066\u304f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<strong>OCA1A<\/strong> \u3067\u306f\u751f\u6daf\u5909\u308f\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u4ed6\u306e\u578b\u3068\u898b\u5206\u3051\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u306f\u3044\u3002\u51fa\u8840\u3057\u3084\u3059\u3055\u3092\u4f34\u3046\u578b\u3084\u3001\u611f\u67d3\u3057\u3084\u3059\u3055\u3092\u4f34\u3046\u578b\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u306f\u6cbb\u7642\u65b9\u91dd\u304c\u5909\u308f\u308a\u307e\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u78ba\u304b\u3081\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Tomita Y, Takeda A, Okinaga S, et al. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. <em>Biochem Biophys Res Commun<\/em>. 1989;164(3):990-996.<\/li>\n\n\n\n<li>Gr\u00f8nskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. <em>Orphanet J Rare Dis<\/em>. 2007;2:43.<\/li>\n\n\n\n<li>Lewis RA. Oculocutaneous Albinism Type 1. In: <em>GeneReviews\u00ae<\/em>. University of Washington, Seattle.<\/li>\n\n\n\n<li>Kruijt CC, de Wit GC, Bergen AA, et al. The Phenotypic Spectrum of Albinism. <em>Ophthalmology<\/em>. 2018;125(12):1953-1960.<\/li>\n\n\n\n<li>OMIM #203100 Albinism, oculocutaneous, type IA<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136674","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\/136674","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\/136674\/revisions"}],"predecessor-version":[{"id":137044,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136674\/revisions\/137044"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136674"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}