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<strong>APTX<\/strong>\uff089p21.1\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002\u30a2\u30d7\u30e9\u30bf\u30ad\u30b7\u30f3\u306f\u3001DNA\u4e00\u672c\u9396\u5207\u65ad\u4fee\u5fa9\u306b\u304a\u3044\u3066\u3001DNA\u30ea\u30ac\u30fc\u30bc\u306e\u5931\u6557\u306b\u3088\u308a\u751f\u3058\u305f5&#8242;-\u30a2\u30c7\u30cb\u30eb\u5316\u672b\u7aef\uff08AMP\u4ed8\u52a0\u672b\u7aef\uff09\u3092\u9664\u53bb\u3059\u308b\u9175\u7d20\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u751f\u5316\u5b66\u7684\u30de\u30fc\u30ab\u30fc\u3068\u3057\u3066<strong>\u4f4e\u30a2\u30eb\u30d6\u30df\u30f3\u8840\u75c7\uff083.5 g\/dL\u672a\u6e80\uff09\u3068\u9ad8\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7<\/strong>\u304c\u7279\u5fb4\u7684\u3067\u3042\u308a\u3001\u7d4c\u904e\u3068\u3068\u3082\u306b\u9855\u8457\u306b\u306a\u308b\u3002AFP\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u3053\u306e\u70b9\u3067AOA2\uff08SETX\uff09\u3084\u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\u6027\u904b\u52d5\u5931\u8abf\u75c7\uff08ATM\uff09\u3068\u9451\u5225\u3067\u304d\u308b\u3002<\/p>\n\n\n\n<p>\u773c\u7403\u904b\u52d5\u5931\u884c\u306f\u672c\u75c7\u3067\u9ad8\u983b\u5ea6\u306b\u8a8d\u3081\u3089\u308c\u308b\u304c\u3001\u7d4c\u904e\u3068\u3068\u3082\u306b\u5b8c\u5168\u306a\u5916\u773c\u7b4b\u9ebb\u75fa\u3078\u79fb\u884c\u3057\u3001\u304b\u3048\u3063\u3066\u300c\u5931\u884c\u300d\u3068\u3057\u3066\u8a8d\u8b58\u3055\u308c\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u3002\u821e\u8e0f\u904b\u52d5\u306f\u521d\u671f\u306b\u76ee\u7acb\u3061\u3001\u5f8c\u306b\u5931\u8abf\u3068\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u304c\u524d\u666f\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<p><strong>\u65e5\u672c\u4eba\u304a\u3088\u3073\u5317\u30a2\u30d5\u30ea\u30ab\uff08\u30dd\u30eb\u30c8\u30ac\u30eb\u7cfb\uff09\u306b\u96c6\u7a4d\u304c\u5831\u544a<\/strong>\u3055\u308c\u3066\u304a\u308a\u3001\u65e5\u672c\u4eba\u3067\u306f p.Pro206Leu\u3001p.Val263Gly \u306a\u3069\u306e\u5275\u59cb\u8005\u5909\u7570\u304c\u77e5\u3089\u308c\u308b\u3002\u82e5\u5e74\u767a\u75c7\u306e\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u5931\u8abf\u75c7\u3068\u3057\u3066\u306f\u3001\u30d5\u30ea\u30fc\u30c9\u30e9\u30a4\u30d2\u5931\u8abf\u75c7\u306b\u6b21\u3050\u983b\u5ea6\u3068\u3059\u308b\u5831\u544a\u3082\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. \u76ee\u306e\u52d5\u304d\u304c\u304a\u304b\u3057\u3044\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u3002<\/h3>\n\n\n\n<p>A. \u76ee\u3092\u7d20\u65e9\u304f\u52d5\u304b\u305b\u305a\u3001\u982d\u3092\u632f\u3063\u3066\u5bfe\u8c61\u3092\u8ffd\u3046\u300c\u773c\u7403\u904b\u52d5\u5931\u884c\u300d\u306f\u3053\u306e\u75c5\u6c17\u306b\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u8840\u6db2\u691c\u67fb\u3067\u4f55\u304c\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u30a2\u30eb\u30d6\u30df\u30f3\u304c\u4f4e\u304f\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u304c\u9ad8\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002AFP\u306f\u6b63\u5e38\u3067\u3001\u3053\u306e\u70b9\u304c\u4f3c\u305f\u75c5\u6c17\u3068\u306e\u533a\u5225\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. AOA2\u3068\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u767a\u75c7\u306e\u6642\u671f\uff08AOA1\u306f\u5e7c\u5150\u671f\u3001AOA2\u306f\u601d\u6625\u671f\uff09\u3068\u3001\u8840\u6db2\u691c\u67fb\u306e\u6240\u898b\uff08AOA1\u306f\u4f4e\u30a2\u30eb\u30d6\u30df\u30f3\u3001AOA2\u306fAFP\u9ad8\u5024\uff09\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u304c\u3093\u306b\u306a\u308a\u3084\u3059\u3044\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u60aa\u6027\u816b\u760d\u306e\u30ea\u30b9\u30af\u3084\u514d\u75ab\u4e0d\u5168\u306f\u4f34\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u65e5\u672c\u4eba\u306b\u591a\u3044\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u65e5\u672c\u4eba\u3067\u306e\u5831\u544a\u304c\u6bd4\u8f03\u7684\u591a\u304f\u3001\u65e5\u672c\u4eba\u306b\u7279\u6709\u306e\u907a\u4f1d\u5b50\u5909\u5316\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\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>Date H, Onodera O, Tanaka H, et al. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a>-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. <em>Nat Genet<\/em>. 2001;29(2):184-188.<\/li>\n\n\n\n<li>Moreira MC, Barbot C, Tachi N, et al. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT\/Zn-finger protein aprataxin. <em>Nat Genet<\/em>. 2001;29(2):189-193.<\/li>\n\n\n\n<li>Le Ber I, Moreira MC, Rivaud-P\u00e9choux S, et al. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. <em>Brain<\/em>. 2003;126(Pt 12):2761-2772.<\/li>\n\n\n\n<li>Ahel I, Rass U, El-Khamisy SF, et al. The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates. <em>Nature<\/em>. 2006;443(7112):713-716.<\/li>\n\n\n\n<li>OMIM #208920 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136698","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\/136698","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\/136698\/revisions"}],"predecessor-version":[{"id":137068,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136698\/revisions\/137068"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136698"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}