{"id":33240,"date":"2021-04-21T18:49:33","date_gmt":"2021-04-21T09:49:33","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/xlinked-recessive-inheritance\/"},"modified":"2024-11-29T18:41:33","modified_gmt":"2024-11-29T09:41:33","slug":"xlinked-recessive-inheritance","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/xlinked-recessive-inheritance\/?lang=zh-hans","title":{"rendered":"\u4e0d\u8981\u5ffd\u89c6\u9057\u4f20\u75c5\u7684\u98ce\u9669~\u68c0\u67e5\u4e00\u4e0b\u5b9d\u5b9d\u7684\u6027\u522b\u5427\u3010\u533b\u751f\u76d1\u7763\u3011"},"content":{"rendered":"\n<div class=\"toc\">\n<ul>\n<li><a href=\"#c1\">\u4ea7\u524d\u68c0\u67e5\u5a74\u513f\u6027\u522b\u7684\u539f\u56e0<\/a><\/li><li><a href=\"#c2\">\u8fde\u9501\u9690\u6027\u9057\u4f20\u5bfc\u81f4\u7684\u75be\u75c5<\/a>\n    <ul>\n      <li><a href=\"#c2-1\">\u7ea2\u7eff\u8272\u76f2<\/a><\/li>\n      <li><a href=\"#c2-2\">\u8840\u53cb\u75c5<\/a><\/li>\n      <li><a href=\"#c2-3\">\u808c\u8089\u8425\u517b\u4e0d\u826f<\/a><\/li>\n      <li><a href=\"#c2-4\">XLA (X\u8fde\u9501\u65e0\u4e19\u79cd\u7403\u86cb\u767d\u8840\u75c7)<\/a><\/li>\n      <li><a href=\"#c2-5\">X\u8fde\u9501\u9c7c\u9cde\u75c5\uff08X-linked ichthyosis\uff09<\/a><\/li>\n      <li><a href=\"#c2-6\">\u8461\u8404\u7cd6-6-\u78f7\u9178\u8131\u6c22\u9176\u7f3a\u4e4f\u75c7<\/a><\/li>\n    <\/ul>\n  <\/li><li><a href=\"#c3\">\u8fde\u9501\u9690\u6027\u9057\u4f20\u662f\u75be\u75c5\u7684\u539f\u56e0\u548c\u9057\u4f20<\/a>\n    <ul>\n      <li><a href=\"#c3-1\">\u4eba\u7684\u6027\u522b\u7528X\u548cY\u8868\u793a<\/a><\/li>\n      <li><a href=\"#c3-2\">X\u7684\u4e00\u90e8\u5206\u6709\u5f02\u5e38\uff0c\u5c31\u4f1a\u7ee7\u627f\u4e0b\u53bb<\/a><\/li>\n      <li><a href=\"#c3-3\">\u513f\u5b50\u7684\u8bdd\u4f1a\u53d1\u75c5\uff0c\u5973\u513f\u7684\u8bdd\u5f88\u5c11\u53d1\u75c5<\/a><\/li>\n      <li><a href=\"#c3-4\">\u5973\u513f\u548c\u513f\u5b50\u90fd\u9057\u4f20<\/a>\n        <ul>\n          <li><a href=\"#c3-4-1\">\u5982\u679c\u7236\u4eb2\u6709\u5f02\u5e38\u7684X\u67d3\u8272\u4f53\u7684\u8bdd<\/a><\/li>\n          <li><a href=\"#c3-4-2\">\u5982\u679c\u6bcd\u4eb2\u6709\u5f02\u5e38\u7684X\u67d3\u8272\u4f53\u7684\u8bdd<\/a><\/li>\n        <\/ul>\n      <\/li>\n    <\/ul>\n  <\/li><li><a href=\"#c4\">\u505a\u4e3a\u7236\u6bcd\uff0c\u80fd\u672a\u51fa\u751f\u524d\u7684\u5b69\u5b50\u505a\u4ec0\u9ebd\u3010\u5168\u67d3\u8272\u4f53\u68c0\u67e5\u3011<\/a><\/li>\n<\/ul>\n<button class=\"toc_more\">\u6253\u5f00\u76ee\u5f55<\/button>\n<\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xlinked-recessive-inheritance\/?lang=zh-hans\/#%E4%BA%BA%E7%9A%84%E6%80%A7%E5%88%AB%E7%94%A8X%E5%92%8CY%E8%A1%A8%E7%A4%BA\" >\u4eba\u7684\u6027\u522b\u7528X\u548cY\u8868\u793a<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xlinked-recessive-inheritance\/?lang=zh-hans\/#X%E7%9A%84%E4%B8%80%E9%83%A8%E5%88%86%E6%9C%89%E5%BC%82%E5%B8%B8%EF%BC%8C%E5%B0%B1%E4%BC%9A%E7%BB%A7%E6%89%BF%E4%B8%8B%E5%8E%BB\" >X\u7684\u4e00\u90e8\u5206\u6709\u5f02\u5e38\uff0c\u5c31\u4f1a\u7ee7\u627f\u4e0b\u53bb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xlinked-recessive-inheritance\/?lang=zh-hans\/#%E5%84%BF%E5%AD%90%E7%9A%84%E8%AF%9D%E4%BC%9A%E5%8F%91%E7%97%85%EF%BC%8C%E5%A5%B3%E5%84%BF%E7%9A%84%E8%AF%9D%E5%BE%88%E5%B0%91%E5%8F%91%E7%97%85\" >\u513f\u5b50\u7684\u8bdd\u4f1a\u53d1\u75c5\uff0c\u5973\u513f\u7684\u8bdd\u5f88\u5c11\u53d1\u75c5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xlinked-recessive-inheritance\/?lang=zh-hans\/#%E5%A5%B3%E5%84%BF%E5%92%8C%E5%84%BF%E5%AD%90%E9%83%BD%E9%81%97%E4%BC%A0\" >\u5973\u513f\u548c\u513f\u5b50\u90fd\u9057\u4f20<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xlinked-recessive-inheritance\/?lang=zh-hans\/#%E5%A6%82%E6%9E%9C%E7%88%B6%E4%BA%B2%E6%9C%89%E5%BC%82%E5%B8%B8%E7%9A%84X%E6%9F%93%E8%89%B2%E4%BD%93%E7%9A%84%E8%AF%9D\" >\u5982\u679c\u7236\u4eb2\u6709\u5f02\u5e38\u7684X\u67d3\u8272\u4f53\u7684\u8bdd<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xlinked-recessive-inheritance\/?lang=zh-hans\/#%E5%A6%82%E6%9E%9C%E6%AF%8D%E4%BA%B2%E6%9C%89%E5%BC%82%E5%B8%B8%E7%9A%84X%E6%9F%93%E8%89%B2%E4%BD%93%E7%9A%84%E8%AF%9D\" >\u5982\u679c\u6bcd\u4eb2\u6709\u5f02\u5e38\u7684X\u67d3\u8272\u4f53\u7684\u8bdd<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xlinked-recessive-inheritance\/?lang=zh-hans\/#%E5%81%9A%E4%B8%BA%E7%88%B6%E6%AF%8D%EF%BC%8C%E8%83%BD%E6%9C%AA%E5%87%BA%E7%94%9F%E5%89%8D%E7%9A%84%E5%AD%A9%E5%AD%90%E5%81%9A%E4%BB%80%E9%BA%BD%E3%80%90%E5%85%A8%E6%9F%93%E8%89%B2%E4%BD%93%E6%A3%80%E6%9F%A5%E3%80%91\" >\u505a\u4e3a\u7236\u6bcd\uff0c\u80fd\u672a\u51fa\u751f\u524d\u7684\u5b69\u5b50\u505a\u4ec0\u9ebd\u3010\u5168\u67d3\u8272\u4f53\u68c0\u67e5\u3011<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\" id=\"c1\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%A3%E5%89%8D%E3%81%AB%E3%80%81%E8%B5%A4%E3%81%A1%E3%82%83%E3%82%93%E3%81%AE%E6%80%A7%E5%88%A5%E3%82%92%E8%AA%BF%E3%81%B9%E3%82%8B%E7%90%86%E7%94%B1\"><\/span>\u51fa\u7523\u524d\u306b\u3001\u8d64\u3061\u3083\u3093\u306e\u6027\u5225\u3092\u8abf\u3079\u308b\u7406\u7531<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u300e\u51fa\u751f\u524d\u68c0\u67e5\u6027\u522b\u6709\u610f\u4e49\u5417?\u300f<br>\u300e\u4f3c\u4e4e\u4f1a\u964d\u4f4e\u671f\u5f85\u503c\u300f<br>\u5bf9\u4e8e\u5b9d\u5b9d\u7684\u6027\u522b\uff0c\u6709\u8fc7\u8fd9\u6837\u7684\u60f3\u6cd5\u5417?<\/p>\n\n\n\n<p>\u8c08\u5230\u7ed3\u8bba\uff0c\u5206\u5a29\u524d\u8c03\u67e5\u4e00\u4e0b\u5b9d\u5b9d\u7684\u6027\u522b\u548c\u57fa\u56e0\u4f1a\u6bd4\u8f83\u597d\u5594\u3002<br>\u4e3a\u4ec0\u9ebd\u8fd9\u9ebd\u8bf4\u5462\uff0c\u662f\u56e0\u4e3a\u6709\u6839\u636e\u6027\u522b\u800c\u6709\u53d1\u75c5\u203b1\u98ce\u9669\u7684\u9057\u4f20\u75be\u75c5\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u5728\u5206\u5a29\u524d\u77ad\u89e3\u6027\u522b\u548c\u57fa\u56e0\u4fe1\u606f\uff0c\u4f5c\u4e3a\u7236\u6bcd\u5c06\u80fd\u591f\u63d0\u4f9b\u8ba9\u5b9d\u5b9d\u8212\u9002\u7684\u751f\u6d3b\u3002<\/p>\n\n\n\n<p>\u8fde\u9501\u9690\u6027\u9057\u4f20 (X-linkedrecessive inheritance) \u662f\u9057\u4f20\u6027\u75be\u75c5\u7684\u539f\u56e0\u4e4b\u4e00\u3002<br>\u6709\u8fde\u9501\u9690\u6027\u9057\u4f20\u4e14\u662f\u7537\u5b69\u5b50\u7684\u8bdd\u4f1a\u53d1\u75c5\u3002<br>\u4f46\u5982\u679c\u662f\u5973\u5b69\u5b50\u7684\u8bdd\uff0c\u60a8\u7684\u5b59\u5b50\u5c31\u53ef\u80fd\u6709\u53d1\u75c5\u7684\u98ce\u9669\u3002<\/p>\n\n\n\n<p><br>\u7ed9\u6b63\u5728\u4e3a\u662f\u5426\u63a5\u53d7\u4ea7\u524d\u8bca\u65ad\u800c\u70e6\u607c\u7684\u4f60\u3002<br>\u5bf9\u8fde\u9501\u9690\u6027\u9057\u4f20\u7684\u77ad\u89e3\u5c06\u5bf9\u60a8\u6709\u6240\u5e2e\u52a9\u3002<\/p>\n\n\n\n<p>\u5728\u672c\u6587\u4e2d\uff0c<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8fde\u9501\u9690\u6027\u9057\u4f20\u6240\u5f15\u8d77\u7684\u75be\u75c5<\/li>\n\n\n\n<li>\u5173\u4e8e\u8fde\u9501\u9690\u6027\u9057\u4f20<\/li>\n\n\n\n<li>\u8eab\u4e3a\u7236\u6bcd\u5e94\u8be5\u505a\u4ec0\u9ebd\u6837\u7684\u68c0\u67e5\u5462<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fdb\u884c\u8bf4\u660e\u3002<\/p>\n\n\n\n<p>\u82e5\u662f\u4e0d\u4e86\u89e3\u4ee5\u4e0a\u72b6\u51b5\u7684\u8bdd\uff0c\u5728\u5b9d\u5b9d\u53d1\u75c5\u4e4b\u524d\u5c06\u4e0d\u80fd\u63a1\u53d6\u4efb\u4f55\u7684\u63aa\u65bd\u3002<br>\u5373\u4f7f\u5728\u53d1\u75c5\u4e4b\u540e\uff0c\u4e5f\u4f1a\u56e0\u4e3a\u4e0d\u77e5\u53bb\u533b\u9662\u7684\u65f6\u673a\uff0c\u5bfc\u81f4\u6ce8\u610f\u5230\u65f6\u4ee5\u4e3a\u65f6\u5df2\u665a\u3002<br>\u5982\u679c\u6ca1\u6709\u4e86\u89e3\u5173\u4e8e\u75be\u75c5\u7684\u77e5\u8bc6\uff0c\u4e5f\u5c31\u4e0d\u77e5\u9053\u8be5\u53bb\u54ea\u4e2a\u79d1\u3002<\/p>\n\n\n\n<p>\u4e0d\u8fc7\uff0c\u4e86\u89e3\u9057\u4f20\u75be\u75c5\u7684\u8bdd\uff0c\u8eab\u4e3a\u7236\u6bcd\u5c31\u53ef\u4ee5\u505a\u51fa\u9002\u5f53\u7684\u5224\u65ad\u4e0e\u80b2\u513f\u3002<br>\u5bf9\u5b69\u5b50\u7a81\u7136\u51fa\u73b0\u7684\u75c7\u72b6\u4e5f\u4e0d\u4f1a\u611f\u5230\u56f0\u60d1\uff0c\u4f5c\u4e3a\u7236\u6bcd\u4f1a\u5e2e\u52a9\u5b69\u5b50\u5ea6\u8fc7\u8212\u9002\u7684\u751f\u6d3b\u5427\u3002<\/p>\n\n\n\n<p>\u203b1\u3000\u53d1\u75c5\uff1a\u51fa\u73b0\u75c7\u72b6\u6216\u751f\u75c5\u3002<br>\u5728\u672c\u6587\u4e2d\uff0c\u8fde\u9501\u9690\u6027\u9057\u4f20\u662f\u53d1\u75c5\u7684\u539f\u56e0\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"600\" height=\"370\" src=\"\/nipt\/wp-content\/uploads\/2021\/12\/ca994bd45fc2f4275370a12ff8aa9034.jpg\" alt=\"\u51fa\u7523\u524d\u306b\u3001\u8d64\u3061\u3083\u3093\u306e\u6027\u5225\u3092\u8abf\u3079\u308b\u7406\u7531\" class=\"wp-image-21377\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"c2\"><span class=\"ez-toc-section\" id=\"%E8%BF%9E%E9%94%81%E9%9A%90%E6%80%A7%E9%81%97%E4%BC%A0%E5%AF%BC%E8%87%B4%E7%9A%84%E7%96%BE%E7%97%85\"><\/span><strong><strong>\u8fde\u9501\u9690\u6027\u9057\u4f20\u5bfc\u81f4\u7684\u75be\u75c5<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4eba\u4f53\u6709\uff38\u67d3\u8272\u4f53\uff0c\uff38\u67d3\u8272\u4f53\u4e0a\u8bb0\u5f55\u4e86\u4eba\u7c7b\u8eab\u4f53\u7684\u4fe1\u606f\uff0c\u8be5\u4fe1\u606f\u88ab\u79f0\u4e4b\u4e3a\u57fa\u56e0\u3002<\/p>\n\n\n\n<p>\u4e0d\u8fc7\uff0c\u82e5\u8fd9\u4e9b\u4fe1\u606f\u88ab\u5f02\u5e38\u91cd\u5199\u4e86\uff0c\u4eba\u4f53\u5c31\u4f1a\u6362\u4e0a\u5404\u79cd\u75be\u75c5\u3002<\/p>\n\n\n\n<p>\u6839\u636e\u88ab\u6539\u5199\u7684\u54ea\u4e2a\u90e8\u5206\uff0c\u75be\u75c5\u7684\u79cd\u7c7b\u4e5f\u4f1a\u8ddf\u7740\u6539\u53d8\u3002<br><br>\u5982\u679c\u60a8\u6216\u60a8\u7684\u914d\u5076\u60a3\u6709\u4ee5\u4e0b\u75be\u75c5\uff0c\u5219\u53ef\u80fd\u4f1a\u9057\u4f20\u7ed9\u5b9d\u5b9d\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-1\"><span class=\"ez-toc-section\" id=\"%E7%BA%A2%E7%BB%BF%E8%89%B2%E7%9B%B2\"><\/span><strong>\u7ea2\u7eff\u8272\u76f2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7b80\u5355\u5730\u8bf4\uff0c\u5c31\u662f\u4e0d\u80fd\u8bc6\u522b\u7ea2\u8272\u7cfb\u7edf\u548c\u7eff\u8272\u7cfb\u7edf\u3002<br>\u8fd9\u5e76\u4e0d\u662f\u89c6\u529b\u4e0d\u597d\u7684\u610f\u601d\u3002<br>\u4f46\u662f\uff0c\u5bf9\u5c06\u6765\u80fd\u4ece\u4e8b\u7684\u804c\u4e1a\u4f1a\u6709\u6240\u89c4\u9650\u3002<br><br>\u8fd9\u662f\u8272\u89c9\u5f02\u5e38\u7684\u4e00\u79cd\uff0c\u88ab\u79f0\u4e4b\u4e3a\u8272\u76f2\u3002<\/p>\n\n\n\n<p>\u4f8b\u5982<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9700\u8981\u770b\u4fe1\u53f7\u706f\u7684\u4ea4\u901a\u6216\u8fd0\u8f93\u76f8\u5173\u7684\u9a7e\u9a76\u5458<\/li>\n\n\n\n<li>\u753b\u5bb6\u3001\u8bbe\u8ba1\u5e08<\/li>\n\n\n\n<li>\u8b66\u5bdf\uff0c\u6d88\u9632\uff0c\u8239\u8236\uff0c\u56fd\u9632\u90e8<\/li>\n\n\n\n<li>\u6cb3\u8c5a\u53a8\u5e08\uff0c\u6bd2\u7269\u5904\u7406\u8d1f\u8d23\u4eba<\/li>\n<\/ul>\n\n\n\n<p>\u662f\u9700\u8981\u8bc1\u660e\u4e0d\u662f\u8272\u76f2\u7684\u804c\u4e1a\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-2\"><span class=\"ez-toc-section\" id=\"%E8%A1%80%E5%8F%8B%E7%97%85%EF%BC%88A%E5%92%8CB%EF%BC%89\"><\/span><strong>\u8840\u53cb\u75c5\uff08A\u548cB\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u53cb\u75c5\u662f\u300c\u51fa\u8840\u7684\u65f6\u5019\uff0c\u8840\u6b62\u4e0d\u4f4f\u7684\u75c5\u300d<br>\u56e0\u4e3a\u8840\u6db2\u7684\u51dd\u56fa\u56e0\u5b50\u5f88\u5c11\u3002<br><br>\u51dd\u8840\u56e0\u5b50\u5177\u6709\u51dd\u56fa\u8840\u6db2\u7684\u4f5c\u7528\u3002<br>\u5373\u4f7f\u4f60\u53d7\u4f24\u75c5\u51fa\u8840\uff0c\u4e5f\u4f1a\u51dd\u56fa\u5e76\u53d8\u6210\u300c\u7ed3\u75c2\u300d\uff0c\u8fd9\u90fd\u8981\u5f52\u529f\u4e8e\u51dd\u8840\u56e0\u5b50\u3002<\/p>\n\n\n\n<p>\u7531\u8fde\u9501\u9690\u6027\u9057\u4f20\u5f15\u8d77\u7684\u8840\u53cb\u75c5\u6709\uff21\u548c\uff22\u4e24\u79cd\u3002<br>\u8840\u53cb\u75c5\uff21\u548c\uff22\u7684\u4e0d\u540c\u4e8b\u8840\u6db2\u51dd\u56fa\u56e0\u7684\u4e0d\u540c\u3002<br>\u4e5f\u5c31\u662f\u8bf4\uff0c\u54ea\u79cd\u51dd\u8840\u56e0\u5b50\u8f83\u5c11\u5462\u3002<\/p>\n\n\n\n<p>\u51dd\u8840\u56e0\u5b50\u4e0d\u662f\u5355\u4e00\u7684\uff0c\u800c\u662f\u8907\u6570\u6027\u7684\u5b58\u5728\u3002<\/p>\n\n\n\n<p>\u8840\u53cb\u75c5\uff21\u662f\u7b2cVIII\uff088\uff09\u56e0\u5b50\u7684\u5f02\u5e38\uff0c\u8840\u53cb\u75c5\uff22\u662f\u7b2cIX\uff089\uff09\u56e0\u5b50\u7684\u5f02\u5e38\u3002<br><\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-3\"><span class=\"ez-toc-section\" id=\"%E8%82%8C%E8%82%89%E8%90%A5%E5%85%BB%E4%B8%8D%E8%89%AF\"><\/span><strong>\u808c\u8089\u8425\u517b\u4e0d\u826f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u662f\u65e0\u6cd5\u63a7\u5236\u808c\u8089\u7684\u75be\u75c5\u3002<br>\u808c\u8089\u5931\u5f04\u5f97\u539f\u56e0\u662f\u7f3a\u4e4f\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u3002<br>\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u662f\u4e00\u79cd\u4ece\u5185\u90e8\u652f\u6301\u808c\u8089\u5f62\u72b6\u7684\u86cb\u767d\u8d28\u3002<br>\u5f53\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u57fa\u56e0\u53d1\u751f\u5f02\u5e38\u65f6\uff0c\u8eab\u4f53\u65e0\u6cd5\u5236\u9020\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u3002<\/p>\n\n\n\n<p><br>\u6839\u636e\u54ea\u88e1\u7684\u808c\u8089\u53d8\u5f97\u65e0\u6cd5\u63a7\u5236\uff0c\u91cd\u75c7\u5ea6\u800c\u6709\u6240\u4e0d\u540c\u7684\u3002<br>\u4f8b\u5982\uff0c\u4f1a\u56e0\u4e3a\u547c\u5438\u808c\u8089\u7b49\u7684\u547c\u5438\u8870\u7aed\u800c\u5bfc\u81f4\u6b7b\u4ea1\u3002<br>\u5982\u679c\u4e0d\u80fd\u63a7\u5236\u817f\u548c\u9aa8\u76c6\u5468\u56f4\uff0c\u5c31\u65e0\u6cd5\u884c\u8d70\u5f97\u9760\u8f6e\u6905\u8fc7\u6d3b\u3002<br>\u8fd1\u5e74\u6765\uff0c\u56e0\u5927\u6cc9\u6d0b\u4e3b\u6f14\u7684\u300c\u8fd9\u662f\u6df1\u591c\u7684\u9999\u8549\uff1f\u5fc3\u7231\u7684\u771f\u5b9e\u6545\u4e8b\u300d\u800c\u5e7f\u4e3a\u4eba\u77e5\u7684\u75be\u75c5\u3002<\/p>\n\n\n\n<h4 id=\"c2-3-1\"><span class=\"ez-toc-section\" id=\"%E8%B4%9D%E5%85%8B%E5%9E%8B%E5%92%8C%E6%9D%9C%E5%85%B4%E5%9E%8B\"><\/span>\u8d1d\u514b\u578b\u548c\u675c\u5174\u578b<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u7531\u8fde\u9501\u9690\u6027\u9057\u4f20\u5f15\u8d77\u7684\u808c\u8089\u840e\u7f29\u75c7\u6709\u8d1d\u514b\u578b\u548c\u675c\u5174\u578b\u4e24\u79cd\u3002<br>\u4e24\u8005\u4e4b\u95f4\u7684\u533a\u522b\u5728\u4e8e\u808c\u8089\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u91cf\u3002<br>\u4e0e\u8d1d\u514b\u578b\u76f8\u6bd4\uff0c\u675c\u5174\u578b\u7684\u8425\u517b\u4e0d\u826f\u86cb\u767d\u662f\u5c11\u91cf\u7684\u3002<\/p>\n\n\n\n<p>\u5e73\u5747\u5bff\u547d\u4e5f\u6709\u5dee\u5f02\uff0c\u675c\u5174\u578b\u662f30\u5c81\u5de6\u53f3\uff0c\u8d1d\u514b\u578b\u6709\u751f\u5b58\u523040\u591a\u5c81\u7684\u60c5\u51b5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-4\"><span class=\"ez-toc-section\" id=\"XLA_X%E8%BF%9E%E9%94%81%E6%97%A0%E4%B8%99%E7%A7%8D%E7%90%83%E8%9B%8B%E7%99%BD%E8%A1%80%E7%97%87\"><\/span><strong>XLA (X\u8fde\u9501\u65e0\u4e19\u79cd\u7403\u86cb\u767d\u8840\u75c7)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>XLA(X\u8fde\u9501\u65e0\u4e19\u79cd\u7403\u86cb\u767d\u8840\u75c7)\u5bb9\u6613\u5f97\u5230\u611f\u67d3\u75c7\u3002<\/p>\n\n\n\n<p>\u611f\u5bb9\u6613\u611f\u67d3\u7684\u539f\u56e0\u662f\u56e0\u4e3aB\u7ec6\u80de\u4ea7\u751f\u4e0d\u4e86\uff0c\u5bfc\u81f4\u514d\u75ab\u529b\u4e0b\u964d\u3002<\/p>\n\n\n\n<p>B\u7ec6\u80de\u7684\u4f5c\u7528\u662f\u4ea7\u751f\u6297\u4f53\u3002<br>\u514d\u75ab\u529f\u80fd\u4e0d\u4ec5\u9650\u4e8eB\u7ec6\u80de\uff0c\u4f46\u5728\u514d\u75ab\u529f\u80fd\u4e2d\u5904\u4e8e\u91cd\u8981\u5730\u4f4d\u3002<\/p>\n\n\n\n<p>\u4f8b\u5982\uff0c\u56e0\u514d\u75ab\u529b\u4f4e\u4e0b\u800c\u4e0d\u80fd\u62b5\u6297\u7ec6\u83cc\u548c\u75c5\u6bd2\uff0c\u800c\u5bb9\u6613\u91cd\u75c7\u5316\uff0c<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65b0\u578b\u51a0\u72b6\u75c5\u6bd2\u611f\u67d3\u75c7<\/li>\n\n\n\n<li>\u8111\u819c\u708e<\/li>\n\n\n\n<li>\u8d25\u8840\u75c5<\/li>\n\n\n\n<li>\u80ba\u708e<\/li>\n\n\n\n<li>\u652f\u6c14\u7ba1\u708e<\/li>\n<\/ul>\n\n\n\n<p>\u5bb9\u6613\u6f14\u53d8\u6210\u4e0a\u8ff0\u75be\u75c5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-5\"><span class=\"ez-toc-section\" id=\"XX%E8%BF%9E%E9%94%81%E9%B1%BC%E9%B3%9E%E7%97%85%EF%BC%88X-linked_ichthyosis%EF%BC%89\"><\/span>X<strong>X\u8fde\u9501\u9c7c\u9cde\u75c5\uff08X-linked ichthyosis\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9c7c\u9cde\u75c5 (\u9c7c\u9cde\u7663) \u4f1a\u4f7f\u5168\u8eab\u76ae\u80a4\u4e7e\u71e5\uff0c\u4ea7\u751f\u7c7b\u4f3c\u9c7c\u9cde (\u9cde\u7247) \u6216\u8bb8\u591a\u76ae\u5c51\u8131\u843d\u7684\u72b6\u6001\u3002<br>\u4e5f\u6709\u76ae\u80a4\u4ee5\u5916\u7684\u810f\u5668\u51fa\u73b0\u5f02\u5e38\u7684\u60c5\u51b5\u3002<\/p>\n\n\n\n<p>\u8fd9\u662f\u7531\u4e8e\u57fa\u56e0\u5f02\u5e38\uff0c\u5e76\u4e14\u4f53\u5185\u6ca1\u6709\u7c7b\u56fa\u9187\u786b\u9178\u9176 (STS) \u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-6\"><span class=\"ez-toc-section\" id=\"%E8%91%A1%E8%90%84%E7%B3%96-6-%E7%A3%B7%E9%85%B8%E8%84%B1%E6%B0%A2%E9%85%B6%E7%BC%BA%E4%B9%8F%E7%97%87\"><\/span><strong>\u8461\u8404\u7cd6-6-\u78f7\u9178\u8131\u6c22\u9176\u7f3a\u4e4f\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5bb9\u6613\u53d1\u751f\u8d2b\u8840\u3002<\/p>\n\n\n\n<p>\u5176\u7406\u7531\u662f\u7531\u4e8e\u6d3b\u6027\u6c27\u4f7f\u7ea2\u8840\u7403\u5bb9\u6613\u6eb6\u8840\u203b1\u3002<\/p>\n\n\n\n<p>\u8461\u8404\u7cd6-6-\u78f7\u9178\u8131\u6c22\u9175\u7d20\u6709\u52a9\u4e8e\u53bb\u9664\u6d3b\u6027\u6c27\u3002<br>\u4e5f\u5c31\u662f\u8bf4\uff0c\u5982\u679c\u6ca1\u6709\u8fd9\u79cd\u9175\u7d20\u5c31\u4e0d\u80fd\u9664\u53bb\u6d3b\u6027\u6c27\uff0c\u800c\u6d3b\u6027\u6c27\u4f1a\u4f7f\u7ea2\u8840\u7403\u4ea7\u751f\u6eb6\u8840\u3002<\/p>\n\n\n\n<p>\u203b1\u3000\u6eb6\u8840\uff1a\u7ea2\u8840\u7403\u88ab\u7834\u574f\u4e86\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"600\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2021\/12\/621dac062b28a21b172e900646d5070a.png\" alt=\"\u4f34\u6027\u52a3\u6027\u907a\u4f1d\u304c\u539f\u56e0\u3067\u306a\u308a\u3084\u3059\u3044\u75c5\u6c17\" class=\"wp-image-21381\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"c3\"><span class=\"ez-toc-section\" id=\"%E4%BC%B4%E6%80%A7%E9%9A%90%E6%80%A7%E9%81%97%E4%BC%A0%E6%98%AF%E7%96%BE%E7%97%85%E7%9A%84%E5%8E%9F%E5%9B%A0%E5%92%8C%E9%81%97%E4%BC%A0\"><\/span><strong>\u4f34\u6027\u9690\u6027\u9057\u4f20\u662f\u75be\u75c5\u7684\u539f\u56e0\u548c\u9057\u4f20<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-1\"><span class=\"ez-toc-section\" id=\"%E4%BA%BA%E7%9A%84%E6%80%A7%E5%88%AB%E7%94%A8X%E5%92%8CY%E8%A1%A8%E7%A4%BA\"><\/span><strong>\u4eba\u7684\u6027\u522b\u7528X\u548cY\u8868\u793a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7537\u6027\u8868\u793a\u4e3aX\u548cY(\u4ee5\u4e0b\u7b80\u79f0XY)\uff0c\u5973\u6027\u8868\u793a\u4e3aX\u548cX(\u4ee5\u4e0b\u7b80\u79f0\u4e3aXX)\u3002<\/p>\n\n\n\n<p>\u4eba\u7c7b\u7684\u67d3\u8272\u4e3a46\u6761\u3002<br>\u5176\u4e2d\u76842\u4e2a\u67d3\u8272\u4f53\u662fX\u548cY\uff0c\u6216\u8005\u662fX\u548cX\uff0c\u8fd9\u4e9b\u88ab\u79f0\u4e3a\u6027\u67d3\u8272\u4f53\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-2\"><span class=\"ez-toc-section\" id=\"X%E7%9A%84%E4%B8%80%E9%83%A8%E5%88%86%E6%9C%89%E5%BC%82%E5%B8%B8%EF%BC%8C%E5%B0%B1%E4%BC%9A%E7%BB%A7%E6%89%BF%E4%B8%8B%E5%8E%BB\"><\/span><strong>X\u7684\u4e00\u90e8\u5206\u6709\u5f02\u5e38\uff0c\u5c31\u4f1a\u7ee7\u627f\u4e0b\u53bb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fde\u9501\u9690\u6027\u9057\u4f20\u53ef\u5f71\u54cdX\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u3002<\/p>\n\n\n\n<p>\u6027\u67d3\u8272\u4f53(X\u548cY)\u8bb0\u5f55\u4e86\u521b\u9020\u4eba\u4f53\u7684\u4fe1\u606f\uff0c\u88ab\u6bd4\u55bb\u4e3a\u4e00\u4e2a\u5b57\u5178\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u7531\u4e8e\u67d0\u79cd\u539f\u56e0\u5bfc\u81f4\u5b57\u5178\u7684\u4e00\u90e8\u5206\u71c3\u70e7\u6216\u7834\u88c2\uff0c\u90a3\u9ebd\u4eba\u7c7b\u7684\u8eab\u4f53\u5c31\u4f1a\u5931\u53bb\u7f3a\u5931\u7684\u90e8\u5206\u3002<br>\u8f83\u6781\u7aef\u7684\u8bdd\uff0c\u5c0f\u6307\u7684\u4fe1\u606f\u5199\u5728X\u67d3\u8272\u4f53\u4e0a\uff0c\u5982\u679c\u4e22\u5931\u4e86\u5c31\u4f1a\u53d8\u6210\u4e00\u4e2a\u6ca1\u6709\u5c0f\u6307\u7684\u4eba\u3002<br><br>\u7136\u540e\uff0c\u5b57\u5178(X\u67d3\u8272\u4f53\u5f02\u5e38)\u5c06\u4ee3\u4ee3\u76f8\u4f20\u7ed9\u60a8\u7684\u540e\u4ee3\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-3\"><span class=\"ez-toc-section\" id=\"%E5%84%BF%E5%AD%90%E7%9A%84%E8%AF%9D%E4%BC%9A%E5%8F%91%E7%97%85%EF%BC%8C%E5%A5%B3%E5%84%BF%E7%9A%84%E8%AF%9D%E5%BE%88%E5%B0%91%E5%8F%91%E7%97%85\"><\/span><strong>\u513f\u5b50\u7684\u8bdd\u4f1a\u53d1\u75c5\uff0c\u5973\u513f\u7684\u8bdd\u5f88\u5c11\u53d1\u75c5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5373\u4f7f\u9057\u4f20\u4e86X\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u662f\u5973\u513f(XX)\u7684\u8bdd\u4e5f\u4e0d\u53d1\u75c5\u3002<br>\u539f\u56e0\u662f\u56e0\u4e3a\u5973\u6027\u67092\u6761X\u67d3\u8272\u4f53\u3002<br>\u5982\u679c\u67092\u6761x\u67d3\u8272\u4f53\u7684\u8bdd\uff0c\u5373\u4f7f\u5176\u4e2d\u4e00\u6761\u6709\u5f02\u5e38\uff0c\u53e6\u4e00\u6761\u4e5f\u4f1a\u8d77\u5230\u5f25\u8865\u5f02\u5e38\u7684\u4f5c\u7528\u3002<br>\u82e5\u662f\u5973\u513f(XX)\u53d1\u75c5\u7684\u8bdd\uff0c\u7236\u6bcd\u53cc\u65b9\u90fd\u5fc5\u987b\u8981\u6709\u5f02\u5e38\u7684X\u67d3\u8272\u4f53\uff0c\u8fd9\u662f\u975e\u5e38\u7f55\u89c1\u7684\u60c5\u51b5\u3002<\/p>\n\n\n\n<p>\u662f\u513f\u5b50(XY)\u7684\u8bdd\uff0c\u5219\u65e0\u6cd5\u590d\u76d6\u5f02\u5e38\u3002<br>\u56e0\u4e3a\u4e0eX\u67d3\u8272\u4f53\u76f8\u6bd4\uff0cY\u67d3\u8272\u4f53\u7684\u57fa\u56e0\u79cd\u7c7b\u8f83\u5c11\u3002<br>\u5982\u5148\u524d\u4e3e\u7684\u4f8b\u5b50\u4e00\u6837\uff0c\u82e5\u662fX\u67d3\u8272\u4f53\u662f\u5b57\u5178\u7684\u8bdd\uff0c\u5219Y\u67d3\u8272\u4f53\u5c31\u662f\u5e73\u88c5\u4e66\u3002<br>\u4e0e\u5b57\u5178\u76f8\u6bd4\u7684\u4fe1\u606f\u91cf\u8f83\u5c11\uff0c\u6240\u4ee5\u5e73\u88c5\u4e66\u66ff\u4ee3\u4e0d\u4e86\u5b57\u5178\u3002<\/p>\n\n\n\n<p>\u6ca1\u6709\u66ff\u4ee3\u7269\u7684\u513f\u5b50(XY)\u5c31\u4f1a\u53d1\u75c5\uff0c\u53d1\u75c5\u7684\u75c5\u51b5\u53d6\u51b3\u4e8e\u5b57\u5178\u4e2d\u90a3\u4e9b\u9875\u6570\u51fa\u73b0\u5f02\u5e38\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-4\"><span class=\"ez-toc-section\" id=\"%E5%A5%B3%E5%84%BF%E5%92%8C%E5%84%BF%E5%AD%90%E9%83%BD%E9%81%97%E4%BC%A0\"><\/span><strong>\u5973\u513f\u548c\u513f\u5b50\u90fd\u9057\u4f20<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6027\u67d3\u8272\u4f53\u7684\u9057\u4f20\u662f\u4ece\u7236\u4eb2(XY)\u7ee7\u627fX\u6216Y\u4e4b\u4e00\uff0c\u4ece\u6bcd\u4eb2(XX)\u7ee7\u627fX\u6216X\u4e4b\u4e00\u3002<\/p>\n\n\n\n<p>\u4e0d\u7ba1\u6709\u65e0\u53d1\u75c5\uff0c\u5f02\u5e38\u7684X\u67d3\u8272\u4f53\u90fd\u4f1a\u9057\u4f20\u3002<br>\u4f46\u662f\u5e76\u4e0d\u662f100%\u7684\u6982\u7387\u4f1a\u9057\u4f20\u3002<\/p>\n\n\n\n<p>\u81f3\u4e8e\u600e\u9ebd\u9057\u4f20\uff0c\u53d6\u51b3\u4e8e\u7236\u6bcd\u53cc\u65b9\u4e4b\u4e00\u62e5\u6709\u5f02\u5e38\u7684X\u67d3\u8272\u4f53\u3002<\/p>\n\n\n\n<p>\u5373\u4f7f\u672a\u51fa\u73b0\u75c7\u72b6\u7684\u5973\u513f(XX)\u51fa\u751f\uff0c\u4e5f\u6709\u53ef\u80fd\u662f\u643a\u5e26\u8005\u203b1 \u3002<br>\u5982\u679c\u662f\u4ea7\u4e0b\u5973\u513f(XX)\u7684\u8bdd\uff0c\u5728\u5206\u5a29\u65f6\u4e0d\u77e5\u9053\u662f\u643a\u5e26\u8005\uff0c\u60a8\u7684\u5b59\u5b50\u53ef\u80fd\u5c31\u4f1a\u53d7\u5230\u4e0d\u826f\u7684\u5f71\u54cd\u3002<\/p>\n\n\n\n<p>\u203b1 \u643a\u5e26\u8005\uff1a\u57fa\u56e0\u5f02\u5e38\u4f46\u672a\u53d1\u75c5\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c3-4-1\"><span class=\"ez-toc-section\" id=\"%E5%A6%82%E6%9E%9C%E7%88%B6%E4%BA%B2%E6%9C%89%E5%BC%82%E5%B8%B8%E7%9A%84X%E6%9F%93%E8%89%B2%E4%BD%93%E7%9A%84%E8%AF%9D\"><\/span><strong>\u5982\u679c\u7236\u4eb2\u6709\u5f02\u5e38\u7684X\u67d3\u8272\u4f53\u7684\u8bdd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh6.googleusercontent.com\/CFyTUDzX8DiMVOMvXqEGjlNXg7A5I5ROMNVqmaJzc0LIw2XB0C7N8FH7th2hi1cSQ9OyyPl75La4dYyrqGFbR2zWYM-4tU6GQftgJZkxqmF8hfYg_pPmMka3n-cvpoX_M3w1UJCh\" alt=\"\"\/><\/figure>\n\n\n\n<p>\u203b\u7ea2\u8272\u5b57\u4f53\u662f\u5f02\u5e38\u7684X\u67d3\u8272\u4f53<\/p>\n\n\n\n<p>\u5f53\u7236\u4eb2\u6709\u5f02\u5e38\u7684X\u67d3\u8272\u4f53\u5341\uff0c\u4e0d\u4f1a\u4f20\u7ed9\u513f\u5b50\u3002<br>\u56e0\u4e3a\u513f\u5b50\u4ece\u7236\u4eb2\u90a3\u88e1\u9057\u4f20\u4e86Y\u67d3\u8272\u4f53\u3002<\/p>\n\n\n\n<p>\u4f46\u662f\uff0c\u5973\u513f\u4e00\u5b9a\u4f1a\u9057\u4f20\u5f02\u5e38\u7684X\u67d3\u8272\u4f53\uff0c\u6240\u4ee5\u662f\u643a\u5e26\u8005\u3002<br><\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c3-4-2\"><span class=\"ez-toc-section\" id=\"%E5%A6%82%E6%9E%9C%E6%AF%8D%E4%BA%B2%E6%9C%89%E5%BC%82%E5%B8%B8%E7%9A%84X%E6%9F%93%E8%89%B2%E4%BD%93%E7%9A%84%E8%AF%9D\"><\/span><strong>\u5982\u679c\u6bcd\u4eb2\u6709\u5f02\u5e38\u7684X\u67d3\u8272\u4f53\u7684\u8bdd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh4.googleusercontent.com\/SOIu66HH0F9zIFRt_p4O6rDUBf0VXfBVXttazd-IYM6qWngIK_3cGXdHGnJjVZIg6KqKLU-N3ISwWg4Bd1cZbcV3oaCeycOd6croDg-I_HVxidK3amWpP0DT2zz_CWKE6UnZlw1I\" alt=\"\"\/><\/figure>\n\n\n\n<p>\u203b\u7ea2\u8272\u5b57\u4f53\u662f\u5f02\u5e38\u7684X\u67d3\u8272\u4f53<\/p>\n\n\n\n<p>\u5982\u679c\u6bcd\u4eb2\u6709\u57fa\u56e0\u5f02\u5e38\uff0c50%\u7684\u673a\u7387\u4f1a\u9057\u4f20\u7ed9\u513f\u5b50\u548c\u5973\u513f\uff0c\u4f46\u53ea\u6709\u9057\u4f20\u7ed9\u513f\u5b50\u65f6\u624d\u4f1a\u51fa\u73b0\u53d1\u75c5\u7684\u60c5\u51b5\u3002<br><\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c4\"><span class=\"ez-toc-section\" id=\"%E5%81%9A%E4%B8%BA%E7%88%B6%E6%AF%8D%EF%BC%8C%E8%83%BD%E6%9C%AA%E5%87%BA%E7%94%9F%E5%89%8D%E7%9A%84%E5%AD%A9%E5%AD%90%E5%81%9A%E4%BB%80%E9%BA%BD%E3%80%90%E5%85%A8%E6%9F%93%E8%89%B2%E4%BD%93%E6%A3%80%E6%9F%A5%E3%80%91\"><\/span><strong>\u505a\u4e3a\u7236\u6bcd\uff0c\u80fd\u672a\u51fa\u751f\u524d\u7684\u5b69\u5b50\u505a\u4ec0\u9ebd\u3010\u5168\u67d3\u8272\u4f53\u68c0\u67e5\u3011<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u63a8\u8350\u900f\u8fc7\u4ea7\u524d\u8bca\u65ad\u68c0\u67e5\u5b9d\u5b9d\u7684\u6027\u522b\u548c\u57fa\u56e0\u3002<\/p>\n\n\n\n<p>\u7406\u89e3\u5b9d\u5b9d\u662f\u5728\u517b\u80b2\u5b69\u5b50\u4e0a\u4e0d\u53ef\u6216\u7f3a\u7684\u3002<br>\u5982\u679c\u4e8b\u5148\u4e0d\u4e86\u89e3\u7684\u8bdd\uff0c\u4e0d\u89c9\u5f97\u8eab\u4e3a\u7236\u6bcd\u5c06\u5f88\u96be\u6b63\u786e\u7684\u53bb\u5bf9\u5e94\u5417?<\/p>\n\n\n\n<p>\u4f8b\u5982\uff0c\u5047\u8bbe\u5b9d\u5b9d\u662f\u7537\u5b69\u5c31\u53ef\u80fd\u6709\u8840\u53cb\u75c5\u7684\u98ce\u9669\u3002<br>\u5c31\u4f1a\u5bf9\u6d41\u8840\u4e0d\u6b62\u3001\u7b2c\u4e00\u6b21\u53d1\u73b0\u53d1\u75c5\u4e86\u611f\u5230\u5f88\u5bb3\u6015\u5427\u3002<br><\/p>\n\n\n\n<p>Hiro\u8bca\u6240NIPT\u53ef\u901a\u8fc7\u63a5\u53d7\u4ea7\u524d\u8bca\u65ad\u6765\u786e\u8ba4\u6027\u522b\u3002<\/p>\n\n\n\n<p>\u4eca\u5929\u6240\u4ecb\u7ecd\u7684\u8fde\u9501\u9690\u6027\u9057\u4f20\u662f\u300c\u5168\u67d3\u8272\u4f53\u68c0\u67e5\u300d\uff0c\u53ef\u4ee5\u4e0e\u6027\u522b\u4e00\u8d77\u53d1\u75c5\u7684\u98ce\u9669\u3002<\/p>\n\n\n\n<p>\u300c\u5e0c\u671b\u4ea7\u540e\u5b9d\u5b9d\u80fd\u5065\u5eb7\u8212\u9002\u7684\u751f\u6d3b\u300d<br>\u4e3a\u4e86\u5b9e\u73b0\u8fd9\u4e2a\u613f\u671b\uff0c\u8eab\u4e3a\u7236\u6bcd\u7684\u4f60\u60f3\u4e0d\u60f3\u8981\u5728\u4ea7\u524d\u5c31\u77e5\u9053\u5b9d\u5b9d\u7684\u72b6\u51b5\u5462?<br><\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p id=\"refference\"><strong><strong>\u3010\u53c2\u8003\u6587\u732e\u3011<\/strong><\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a rel=\"noreferrer noopener\" href=\"https:\/\/www.cancer.gov\/publications\/dictionaries\/genetics-dictionary\/def\/x-linked-recessive-inheritance\" target=\"_blank\">X-linked recessive inheritance (NATIONAL CANCER INSTITUTE)<\/a><\/li>\n\n\n\n<li><a rel=\"noreferrer noopener\" href=\"https:\/\/plaza.umin.ac.jp\/~fskel\/cgi-bin\/wiki\/wiki.cgi?page=X%CF%A2%BA%BF%CE%F4%C0%AD%A4%CE%B0%E4%C5%C1%A5%AB%A5%A6%A5%F3%A5%BB%A5%EA%A5%F3%A5%B0\" target=\"_blank\">\u8fde\u9501\u9057\u4f20\u7684\u9057\u4f20\u54a8\u8be2 (\u4e1c\u5317\u5927\u5b66\u5927\u5b66\u9662\u533b\u5b66\u7cfb\u7814\u7a76\u79d1\u533b\u79d1\u5b66\u4e13\u4e1a\u5148\u8fdb\u6210\u957f\u533b\u5b66\u8bb2\u5ea7\u80ce\u513f\u533b\u5b66\u9886\u57df \u5ba4\u6708\u7814\u7a76\u5ba4)<\/a><\/li>\n\n\n\n<li><a rel=\"noreferrer noopener\" href=\"http:\/\/www.ketsukyo.or.jp\/plasma\/hemophilia\/hem_01.html\" target=\"_blank\">\u8840\u53cb\u75c5\u548c\u9057\u4f20 (\u4e00\u822c\u793e\u56e2\u6cd5\u4eba\u65e5\u672c\u8f93\u8840\u5236\u5242\u534f\u4f1a)<\/a><\/li>\n\n\n\n<li><a rel=\"noreferrer noopener\" href=\"http:\/\/www.hcc.keio.ac.jp\/ja\/health\/2015\/01\/color-vision-test-before-your-career-choice.html\" target=\"_blank\">\u8272\u89c9\u68c0\u67e5\u63a8\u8350-\u5728\u9009\u62e9\u804c\u4e1a\u4e4b\u524d- (\u5e86\u5e94\u4e49\u587e\u5927\u5b66)<\/a><\/li>\n\n\n\n<li><a rel=\"noreferrer noopener\" href=\"https:\/\/shimizuderm.com\/textbook03\/pdf\/15-02.pdf\" target=\"_blank\">\u65b0\u76ae\u80a4\u79d1\u5b66\u7b2c3\u7248 (\u6e05\u6c34\u5b8f)<\/a><\/li>\n\n\n\n<li><a rel=\"noreferrer noopener\" href=\"https:\/\/msdmnls.co\/3wt1LKL\" target=\"_blank\">\u675c\u5174\u578b\u808c\u8089\u8425\u517b\u4e0d\u826f\u548c\u8d1d\u514b\u578b\u808c\u8089\u8425\u517b\u4e0d\u826f MSD\u624b\u518c<\/a><\/li>\n\n\n\n<li><a rel=\"noreferrer noopener\" href=\"https:\/\/bit.ly\/3cFFx06\" target=\"_blank\">\u808c\u8089\u8425\u517b\u4e0d\u826f \u56fd\u7acb\u533b\u9662\u7ec4\u7ec7 \u4e1c\u7426\u7389\u533b\u9662<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"\u4ea7\u524d\u68c0\u67e5\u5a74\u513f\u6027\u522b\u7684\u539f\u56e0\u8fde\u9501\u9690\u6027\u9057\u4f20\u5bfc\u81f4\u7684&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xlinked-recessive-inheritance\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":17256,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-33240","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/33240","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=33240"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/33240\/revisions"}],"predecessor-version":[{"id":84481,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/33240\/revisions\/84481"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/17256"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33240"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=33240"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=33240"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}