{"id":41984,"date":"2020-07-31T15:00:00","date_gmt":"2020-07-31T06:00:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/albright-2q37\/"},"modified":"2025-10-16T12:04:38","modified_gmt":"2025-10-16T03:04:38","slug":"albright-2q37","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/albright-2q37\/?lang=zh-hans","title":{"rendered":"\u5173\u4e8e\u5965\u5c14\u5e03\u8d56\u7279\u7efc\u5408\u75c7\u638c\u9aa8\u548c\u8dd6\u9aa8\u7f29\u77ed(2q37.3\u7f3a\u5931\u7efc\u5408\u75c7)\u3010\u533b\u751f\u76d1\u4fee\u3011"},"content":{"rendered":"\n<div class=\"toc\">\n\t<ul>\n\t\t<li><a href=\"#c1\">\u6982\u8981<\/a><\/li>\n\t\t<li><a href=\"#c2\">\u539f\u56e0<\/a><\/li>\n\t\t<li><a href=\"#c3\">\u75c7\u72b6<\/a><\/li>\n\t\t<li><a href=\"#c4\">\u8bca\u65ad<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#c4-1\">FISH\u6cd5<\/a><\/li>\n\t\t\t\t<li><a href=\"#c4-2\">DNA\u5fae\u9635\u5217<\/a><\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t\t<li><a href=\"#c5\">\u672a\u6765\u5c55\u671b<\/a><\/li>\n\t\t<li><a href=\"#c6\">\u6458\u8981<\/a><\/li>\n                <li><a href=\"#c7\">\u811a\u6ce8<\/a><\/li>\n\t<\/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_83 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 class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/albright-2q37\/?lang=zh-hans\/#%E6%A6%82%E8%A6%81\" >\u6982\u8981<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/albright-2q37\/?lang=zh-hans\/#%E5%8E%9F%E5%9B%A0\" >\u539f\u56e0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/albright-2q37\/?lang=zh-hans\/#%E7%97%87%E7%8A%B6\" >\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/albright-2q37\/?lang=zh-hans\/#%E8%AF%8A%E6%96%AD\" >\u8bca\u65ad<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/albright-2q37\/?lang=zh-hans\/#FISH%E6%B3%95\" >FISH\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/albright-2q37\/?lang=zh-hans\/#DNA%E5%BE%AE%E9%98%B5%E5%88%97\" >DNA\u5fae\u9635\u5217<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/albright-2q37\/?lang=zh-hans\/#%E6%9C%AA%E6%9D%A5%E5%B1%95%E6%9C%9B\" >\u672a\u6765\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/albright-2q37\/?lang=zh-hans\/#%E6%91%98%E8%A6%81\" >\u6458\u8981<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/albright-2q37\/?lang=zh-hans\/#%E8%84%9A%E6%B3%A8\" >\u811a\u6ce8<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\" id=\"c1\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81\"><\/span>\u6982\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>2q37\u7f3a\u5931\u7efc\u5408\u75c7\u6709\u5404\u79cd\u75c7\u72b6\u548c\u5176\u4ed6\u8868\u73b0\uff0c\u53d6\u51b3\u4e8e\u8d1f\u8d23\u7684\u57fa\u56e0\u3002\u5965\u5c14\u5e03\u8d56\u7279\u7efc\u5408\u75c7\u6837\u7684\u638c\u9aa8\u548c\u8dd6\u9aa8\u7f29\u77ed\u662f\u4e00\u4e2a\u5178\u578b\u7684\u75c7\u72b6\u3002<\/p>\n\n\n\n<p>\u5965\u5c14\u5e03\u8d56\u7279\u7efc\u5408\u75c7\u6837\u638c\u9aa8\u548c\u8dd6\u9aa8\u7f29\u77ed\u662f\u4e00\u79cd\u7531<span class=\"y_marker\">2\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u672b\u7aef\uff082q37.3\uff09\u90e8\u5206\u7f3a\u5931\u5f15\u8d77\u7684\u9057\u4f20\u6027\u75be\u75c5\u3002<\/span>\u662f\u4e00\u79cd\u6781\u4e3a\u7f55\u89c1\u7684\u75be\u75c5\uff0c1989\u5e74\u62a5\u544a\u4e86\u7b2c\u4e00\u4f8b\uff0c\u81f3\u4eca\u5168\u4e16\u754c\u81f3\u5c11\u6709115\u4f8b\u3002\u5927\u7ea6\u4e00\u534a\u7684\u53d7\u5f71\u54cd\u8005\u6709\u624b\u6307\u548c\u811a\u8dbe\u77ed\u7684\u751f\u7406\u7279\u75c7\uff0c\u7279\u522b\u662f\u7b2c\u56db\u4e2a\u624b\u6307\u636e\u8bf4\u5f02\u5e38\u5730\u77ed\u3002\u5176\u4ed6\u8eab\u4f53\u7279\u75c7\uff0c\u5982\u7279\u75c7\u6027\u7684\u9762\u90e8\u7279\u75c7\u548c\u7a00\u758f\u7684\u5934\u53d1\u4e5f\u4f1a\u51fa\u73b0\u3002\u795e\u7ecf\u7cfb\u7edf\u7684\u5f02\u5e38\u8fd8\u53ef\u80fd\u5305\u62ec<span class=\"y_marker\">\u8fd0\u52a8\u6280\u80fd\u7684\u53d1\u80b2\u8fdf\u7f13\uff0c\u5982\u7ad9\u7acb\u3001\u5750\u7acb\u548c\u884c\u8d70\uff0c\u8fd9\u4e9b\u513f\u7ae5\u4e2d\u7ea6\u670925%\u6709\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff0c\u793e\u4f1a\u4ea4\u6d41\u548c\u793e\u4f1a\u4e92\u52a8\u53d7\u635f\u3002<\/span>\u5176\u4ed6\u60c5\u51b5\u5305\u62ec\u708e\u75c7\u6027\u76ae\u80a4\u75c5\uff0c\u5927\u8111\u3001\u5fc3\u810f\u3001\u6d88\u5316\u7cfb\u7edf\u3001\u80be\u810f\u548c\u751f\u6b96\u5668\u5b98\u7684\u7578\u5f62\uff0c\u4ee5\u53ca\u5728\u975e\u5e38\u7f55\u89c1\u7684\u60c5\u51b5\u4e0b\uff0c\u4e00\u79cd\u6781\u5176\u7f55\u89c1\u7684\u809d\u764c&#8211;Wilms\u80bf\u7624\u3002\u7531\u4e8e\u8fd9\u4e9b\u7279\u75c7\uff0c\u8be5\u75c5\u6709\u65f6\u88ab\u79f0\u4e3a2q37\u5168\u5e38\u67d3\u8272\u4f53\u5168\u533a\u90e8\u5206\u7f3a\u5931\u75c5\u3001\u5965\u5c14\u5e03\u8d56\u7279\u9057\u4f20\u6027\u9aa8\u8425\u517b\u4e0d\u826f\u6837\u7efc\u5408\u75c7\u6216\u4e0a\u8155\u795e\u7ecf\u6027\u7cbe\u795e\u969c\u788d\u7efc\u5408\u75c7\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c2\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0\"><\/span>\u539f\u56e0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5965\u5c14\u5e03\u8d56\u7279\u7efc\u5408\u75c7\u6837\u7684\u638c\u9aa8\u548c\u8dd6\u9aa8\u7f29\u77ed\u662f\u7531\u67d3\u8272\u4f53\u7684\u4e00\u4e2a\u533a\u57df\u7684\u7f3a\u9677\u5f15\u8d77\u7684\uff0c\u4f46\u76ee\u524d\u8fd8\u4e0d\u77e5\u9053\u4e3a\u4ec0\u4e48\u4f1a\u51fa\u73b0\u8fd9\u79cd\u7f3a\u9677\u3002\u56e0\u4e3a\u5927\u591a\u6570\u53d7\u5f71\u54cd\u7684\u7236\u6bcd\uff08\u5927\u7ea695%\uff09\u5177\u6709\u6b63\u5e38\u7684\u6838\u578b\uff0c<span class=\"y_marker\">\u6765\u81ea\u7236\u6bcd\u7684\u9057\u4f20\u662f\u7f55\u89c1\u7684\uff0c\u5927\u591a\u6570\u75c5\u4f8b\u662f\u7531<i>de novo<\/i>\u53d8\u5f02(*1)\u5f15\u8d77\u7684\u3002<\/span>\u56e0\u6b64\uff0c\u5b83\u88ab\u8ba4\u4e3a\u662f\u5728\u7236\u6bcd\u7684\u7cbe\u5b50\u548c\u5375\u7ec6\u80de\u5f62\u6210\u8fc7\u7a0b\u4e2d\u6216\u5728\u80da\u80ce\u53d1\u80b2\u7684\u65e9\u671f\u9636\u6bb5\uff0c\u53d7\u7cbe\u5375\u4e2d\u7684DNA\u590d\u5236\u9519\u8bef\u9020\u6210\u7684\u7f3a\u9677\u3002\u7531\u4e8e\u603b\u4f53\u75c5\u4f8b\u6570\u8f83\u5c11\uff0c\u800c\u4e14\u7531\u4e8e<i>de novo<\/i>\u53d8\u5f02\uff0c\u7236\u6bcd\u3001\u5144\u5f1f\u59d0\u59b9\u7684\u57fa\u56e0\u5206\u578b\u76f8\u4f3c\u7684\u60a3\u8005\u4e5f\u4e0d\u591a\uff0c\u56e0\u6b64\u5206\u5b50\u751f\u7269\u5b66\u548c\u9057\u4f20\u5b66\u7814\u7a76\u4e0d\u592a\u6df1\u5165\uff0cgenotype-phenotype\u7684\u5173\u8054\u4e5f\u5f88\u5c11\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\/2022\/09\/albright-2q3701.jpg\" alt=\"\u30aa\u30eb\u30d6\u30e9\u30a4\u30c8\u75c7\u5019\u7fa4\u69d8\u4e2d\u624b\u9aa8\u30fb\u4e2d\u811a\u77ed\u7e2e\u306e\u539f\u56e0\" class=\"wp-image-40767\"\/><\/figure><\/div>\n\n\n<p>\u53d1\u751f\u7f3a\u9677\u7684\u533a\u57df\u5f80\u5f80\u9760\u8fd12\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u7684\u672b\u7aef\uff0c\u8be5\u7f3a\u5931\u5df2\u88ab\u786e\u5b9a\u4e3a2q37\u533a\u57df\uff0c\u8be5\u533a\u57df\u7684\u7eaf\u7cb9\u7f3a\u5931\u88ab\u8ba4\u4e3a\u662f\u5bfc\u81f4\u6709\u5173\u75be\u75c5\u7684\u539f\u56e0\u3002\u7f3a\u5931\u7684\u5927\u5c0f\u56e0\u4eba\u800c\u5f02\uff0c\u5df2\u77e5\u7684\u8303\u56f4\u662f2 Mbp~9 Mbp\u3002\u8be5\u533a\u57df\u7ea6\u6709100\u4e2a\u57fa\u56e0\u7f16\u7801\uff0c\u5176\u4e2d\u4e00\u4e2a\u6216\u591a\u4e2a\u57fa\u56e0\u88ab\u8ba4\u4e3a\u53d7\u5230\u529f\u80fd\u53d7\u635f\u7684\u5f71\u54cd\u800c\u53d1\u75c5\u3002\u6700\u91cd\u8981\u7684\u57fa\u56e0\u4e4b\u4e00\u662f<i>HDAC4<\/i>\u57fa\u56e0(*2)\u8be5\u57fa\u56e0\u5728\u4e00\u4e2a\u7b49\u4f4d\u57fa\u56e0\u4e2d\u5b58\u5728\u7f3a\u9677\uff0c\u5e76\u4f34\u6709\u6742\u5408\u5b50\u4e22\u5931\u3002<i>HDAC4<\/i>\u662f\u4e00\u79cd\u7f16\u7801\u7ec4\u86cb\u767d\u8131\u4e59\u9170\u9176\u7684\u57fa\u56e0\uff0c\u5df2\u77e5\u53c2\u4e0e\u9aa8\u9abc\u548c\u808c\u8089\u53d1\u80b2\u3002\u5965\u5c14\u5e03\u8d56\u7279\u7efc\u5408\u75c7\u7684\u638c\u9aa8\u548c\u8dd6\u9aa8\u7f29\u77ed\u4e0e\u5206\u5b50\u6c34\u5e73\u7684\u5173\u8054\u4ecd\u4e0d\u6e05\u695a\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/edwards-syndrome\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">18\u30c8\u30ea\u30bd\u30df\u30fc\uff08\u30a8\u30c9\u30ef\u30fc\u30ba\u75c7\u5019\u7fa4\uff09\u3068\u306f\uff1f\u75c7\u72b6\u30fb\u6cbb\u7642\u6cd5\u30fb\u4e88\u5f8c\u3092\u89e3\u8aac\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u3010\u533b\u5e2b\u76e3\u4fee\u301118\u30c8\u30ea\u30bd\u30df\u30fc\uff08\u30a8\u30c9\u30ef\u30fc\u30ba\u75c7\u5019\u7fa4\uff09\u306e\u539f\u56e0\u3068\u75c7\u72b6\u30fb\u691c\u67fb\u65b9\u6cd5\u3092\u8a73\u3057\u304f\u89e3\u8aac\uff0f\u8a3a\u65ad\u5f8c\u306e\u5bb6\u65cf\u306e\u5fc3\u306e\u6301\u3061\u65b9\u3084\u6e96\u5099\u306b\u3064\u3044\u3066\u3082\u898b\u3066\u3044\u304d\u307e\u3059\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c3\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6\"><\/span>\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u53d7\u5965\u5c14\u5e03\u8d56\u7279\u7efc\u5408\u75c7\u5f71\u54cd\u7684\u60a3\u8005\uff0c\u5176\u5178\u578b\u75c7\u72b6\u4e3b\u8981\u662f\u8eab\u4f53\u7279\u75c7\u548c\u795e\u7ecf\u7cfb\u7edf\u5f02\u5e38\u3002\u8eab\u4f53\u7279\u75c7\uff1a\u5927\u7ea6\u4e00\u534a\u7684\u60a3\u8005<span class=\"y_marker\">\u6709\u77ed\u6307\u75c7\u6216\u591a\u6307\u75c7\uff0c\u7279\u522b\u662f\u624b\u548c\u811a\u7684\u7b2c4\u6307\u3002<\/span>\u6b64\u5916\uff0c\u5927\u591a\u6570\u75c5\u4f8b\u90fd\u6709\u7279\u75c7\u6027\u7684\u9762\u90e8\u7279\u75c7\uff0c\u5982\u7a81\u51fa\u7684\u989d\u5934\u3001\u5706\u8138\u3001\u7ec6\u800c\u62f1\u7684\u7709\u6bdb\u3001\u51f9\u9677\u7684\u9f3b\u6881\u3001\u7f3a\u5931\u6216\u9686\u8d77\u7684\u9f3b\u8154\u3001\u8584\u5634\u5507\u3001\u8584\u773c\u76ae\u3001\u4e0a\u773c\u7751\u76b1\u895e\u3001\u4e0a\u989a\u88c2\u3001\u5e73\u6ed1\u7684\u816d\u3001\u7a81\u51fa\u7684\u4e0b\u98a7\u9aa8\u548c\u8033\u6735\u5f02\u5e38\u3002\u6b64\u5916\uff0c\u8fd8\u7ecf\u5e38\u51fa\u73b0\u8eab\u6750\u77ee\u5c0f\u3001\u80a5\u80d6\u3001\u5934\u53d1\u7a00\u758f\u3001\u4e73\u5934\u5185\u9677\u7b49\u4e73\u5934\u5f02\u5e38\u7b49\u75c7\u72b6\u3002\u8fd8\u89c2\u5bdf\u5230\u5668\u5b98\u53d1\u80b2\u4e0d\u826f\uff0c\u4e09\u5206\u4e4b\u4e00\u7684\u53d7\u5f71\u54cd\u4e2a\u4f53\u51fa\u73b0\u5fc3\u810f\u3001\u6d88\u5316\u548c\u80be\u810f\u5f02\u5e38\u3002\u5728\u4e00\u4e9b\u60a3\u513f\u4e2d\u53ef\u80fd\u4f1a\u770b\u5230Wilms\u80bf\u7624\u30fb\u80be\u53d1\u80b2\u4e0d\u826f\u30fb\u652f\u6c14\u7ba1\u8f6f\u5316\u75c7\uff0c\u4f46\u53ea\u6709\u5728\u7f3a\u5931\u4fdd\u6301\u57282q37.1\u9644\u8fd1\u65f6\u624d\u4f1a\u51fa\u73b0\u8fd9\u79cd\u60c5\u51b5\u3002\u5965\u5c14\u5e03\u8d56\u7279\u9057\u4f20\u6027\u9aa8\u8425\u517b\u4e0d\u826f\u75c7\uff08*3\uff09\u7684\u8868\u578b\u89c1\u4e8e2q37.3\u7aef\u7c92\u7f3a\u5931\u7684\u60a3\u8005\uff0c\u8fd9\u4e9b\u60a3\u8005\u540e\u6765\u53d1\u5c55\u4e3a\u766b\u75eb\u53d1\u4f5c\u548c\u56ca\u6027\u80be\u75c5\u3002<\/p>\n\n\n\n<p>\u795e\u7ecf\u7cfb\u7edf\u5f02\u5e38\uff1a\u89c2\u5bdf\u5230\u53d1\u80b2\u8fdf\u7f13\u548c\u7cbe\u795e\u533a\u7684\u75c7\u72b6\uff0c\u8fd9\u4e9b\u75c7\u72b6\u5728\u4e0d\u540c\u7684\u4e2a\u4f53\u4e2d\u4ece\u8f7b\u5fae\u5230\u4e25\u91cd\u4e0d\u7b49\uff0c\u5176\u4e2d\u6700\u5178\u578b\u7684\u662f\u7531\u4e8e<span class=\"y_marker\">\u7f3a\u6c27\u75c7\u5bfc\u81f4\u7684\u808c\u8089\u5f20\u529b\u4f4e\u4e0b<\/span>\u3002\u5927\u7ea6\u4e00\u534a\u7684\u75c5\u4eba\u4f1a\u6709\u8fd9\u4e9b\u75c7\u72b6\uff0c\u636e\u8bf4\u8fd9\u4e9b\u75c7\u72b6\u4f1a\u968f\u7740\u65f6\u95f4\u7684\u63a8\u79fb\u800c\u6539\u5584\u3002\u6b64\u5916\uff0c\u5b83\u8fd8\u5177\u6709\u766b\u75eb\u7b49\u766b\u75eb\u53d1\u4f5c\u75c7\u72b6\u7684\u9ad8\u98ce\u9669\u7279\u5f81\u3002\u6b64\u5916\uff0c\u8fd8\u6709\u8fd0\u52a8\u53d1\u80b2\u5ef6\u8fdf\u548c\u884c\u4e3a\u5f02\u5e38\u7684\u62a5\u9053\uff0c\u5982\u7ad9\u7acb\u3001\u5750\u7acb\u548c\u884c\u8d70\u30022q37.3\u5904\u53d1\u751f\u672b\u7aef\u7f3a\u5931\u7684\u60a3\u8005\uff0c\u4e3b\u8981\u5728\u91cd\u590d\u884c\u4e3a\u3001\u4ea4\u6d41\u548c\u793e\u4f1a\u4ea4\u5f80\u65b9\u9762\u6709\u969c\u788d\uff0c\u5e76\u4e14\u53ef\u80fd\u8868\u73b0\u51fa\u81ea\u95ed\u75c7\u8c31\u7cfb\u7684\u5178\u578b\u75c7\u72b6\u3002\u5177\u4f53\u6765\u8bf4\uff0c\u5982<span class=\"y_marker\">\u95f4\u6b47\u6027\u653b\u51fb\u3001\u591a\u52a8\u75c7\u3001\u6ce8\u610f\u529b\u7f3a\u5931\u548c\u5f3a\u8feb\u75c7\u4ee5\u53ca\u7761\u7720\u7d0a\u4e71<\/span>\u3002\u4eba\u4eec\u6ce8\u610f\u5230\u8fd9\u4e9b\u795e\u7ecf\u53d1\u80b2\u884d\u751f\u7684\u5f02\u5e38\u7684\u4e25\u91cd\u7a0b\u5ea6\u548c\u6027\u72b6\u7684\u6570\u91cf\u53d6\u51b3\u4e8e\u57fa\u56e0\u7f3a\u5931\u5927\u5c0f\uff0c\u4f46\u8fd9\u79cd\u5173\u7cfb\u7684\u4e3b\u5bfc\u6027\u8fd8\u6ca1\u6709\u786e\u5b9a\uff0c\u56e0\u4e3a\u4ecd\u6709\u592a\u5c11\u7684\u75c5\u4f8b\u6765\u8bc1\u5b9e\u8fd9\u4e00\u70b9\u3002\u5982\u4e0a\u6240\u8ff0\uff0c\u7531\u4e8e\u5965\u5c14\u5e03\u8d56\u7279\u7efc\u5408\u75c7\u638c\u9aa8\u548c\u8dd6\u9aa8\u77ed\u7f29\u7684\u6cbb\u7597\u6cd5\u7684\u75c7\u72b6\u5982\u51fa\u4e00\u8f99\uff0c\u6240\u4ee5\u57fa\u672c\u4e0a\u662f\u9488\u5bf9\u4e0a\u8ff0\u75c7\u72b6\u7ed9\u4e88\u5bf9\u75c7\u6cbb\u7597\u3002\u6b64\u5916\uff0c\u8fd8\u8fdb\u884c\u5bf9\u80a5\u80d6\u7b49\u7ee7\u53d1\u6027\u75be\u75c5\u7684\u5065\u5eb7\u7ba1\u7406\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\/2022\/09\/albright-2q3702-1.jpg\" alt=\"2q37.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\" class=\"wp-image-40773\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"c4\"><span class=\"ez-toc-section\" id=\"%E8%AF%8A%E6%96%AD\"><\/span>\u8bca\u65ad<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u901a\u8fc7\u4ed4\u7ec6\u8bb0\u5f55\u4e0a\u8ff0\u7684\u7279\u75c7\u6027\u5f02\u5e38\uff0c\u5728\u4e00\u4e9b\u65b0\u751f\u513f\u548c\u5a74\u513f\u4e2d\uff0c\u53ef\u4ee5\u505a\u51fa\u7c7b\u4f3c\u5965\u5c14\u5e03\u8d56\u7279\u7efc\u5408\u75c7\u638c\u9aa8\u548c\u8dd6\u9aa8\u7f29\u77ed\u4e34\u5e8a\u8bca\u65ad\u7684\u53ef\u80fd\u3002\u7136\u800c\uff0c\u5728\u5927\u591a\u6570\u60c5\u51b5\u4e0b\uff0c\u8bca\u65ad\u662f\u5728\u8f83\u665a\u5e74\u9f84\u7684\u513f\u7ae5\u4e2d\u786e\u8ba4\u7684\u3002\u56e0\u6b64\uff0c<span class=\"y_marker\">\u8d85\u58f0\u68c0\u67e5\u548c\u653e\u5c04\u68c0\u67e5\u88ab\u7528\u6765\u68c0\u6d4b\u6700\u521d\u7684\u8eab\u4f53\u53d1\u73b0\u3002<\/span>\u7531\u4e8e\u5965\u5c14\u5e03\u8d56\u7279\u7efc\u5408\u75c7\u7684\u638c\u9aa8\u548c\u8dd6\u9aa8\u7f29\u77ed\u662f\u4e00\u79cd<i>de novo<\/i>\u7a81\u53d8\uff0c\u9664\u4e86\u5c11\u6570\u60c5\u51b5\u5916\uff0c\u5bf9\u7236\u6bcd\u7684\u57fa\u56e0\u68c0\u6d4b\u6ca1\u6709\u4ec0\u4e48\u4ef7\u503c\u3002\u75c5\u7406\u8bca\u65ad\u662f\u901a\u8fc7\u68c0\u67e5\u57fa\u56e0\u7ec4\u7f3a\u9677\u8fdb\u884c\u7684\uff0c\u5927\u81f4\u53ef\u5206\u4e3a\u7ec6\u80de\u9057\u4f20\u5b66\u548c\u5206\u5b50\u9057\u4f20\u5b66\u68c0\u67e5\uff0c\u5177\u4f53\u5982\u4e0b\u3002<\/p>\n\n\n\n<p>\u7ec6\u80de\u9057\u4f20\u5b66\u68c0\u67e5\uff1a\u572880%\u7684\u5965\u5c14\u5e03\u8d56\u7279\u7efc\u5408\u75c7\u638c\u9aa8\u548c\u8dd6\u9aa8\u7f29\u77ed\u7684\u75c5\u4f8b\u4e2d\uff0c\u53ef\u4ee5\u901a\u8fc7\u67d3\u8272\u4f53\u68c0\u6d4b\u5982\u7b80\u5355\u6838\u578b\u5206\u6790\uff08*4\uff09\u786e\u8ba4\u8bca\u65ad\u3002\u7136\u800c\uff0c\u8fd9\u79cd\u65b9\u6cd5\u4ec5\u9650\u4e8e\u76f8\u5bf9\u8f83\u5927\u7684\u7f3a\u9677\u533a\u57df\u3002\u7531\u4e8e\u7f3a\u5931\u533a\u8f83\u5c0f\u7684\u60a3\u8005\u5728\u6b63\u5e38\u67d3\u8272\u4f53\u68c0\u6d4b\u4e2d\u6838\u578b\u6b63\u5e38\uff0c\u56e0\u6b64\u9700\u8981\u7ed3\u5408\u4e0b\u8ff0\u5206\u5b50\u9057\u4f20\u5b66\u68c0\u6d4b\uff0c\u624d\u80fd\u5bf9\u7f3a\u5931\u533a\u4e2a\u4f53\u5dee\u5f02\u8f83\u5927\u7684\u75be\u75c5\u8fdb\u884c\u9ad8\u7cbe\u5ea6\u3001\u9ad8\u7075\u654f\u5ea6\u7684\u8bca\u65ad\u3002<\/p>\n\n\n\n<p>\u5206\u5b50\u57fa\u56e0\u68c0\u6d4b\uff1a\u4f7f\u7528\u5206\u5b50\u751f\u7269\u5b66\u6280\u672f\u8fdb\u884c\u57fa\u56e0\u8bca\u65ad\u3002\u4e3b\u8981\u4f7f\u7528FISH\uff08Fluorescent in situhybridization\uff09\u6cd5\u3001DNA\u5fae\u9635\u5217\u6cd5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-1\"><span class=\"ez-toc-section\" id=\"FISH%E6%B3%95\"><\/span>FISH\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd9\u662f\u4e0e\u76ee\u6807\u57fa\u56e0\u533a\u57df<span class=\"y_marker\">\u4e92\u8865\u7684\u5355\u94feDNA\u88ab\u8367\u5149\u6807\u8bb0\uff0c\u5e76\u4f7f\u7528\u8367\u5149\u663e\u5fae\u955c\u89c2\u5bdf\u7684\u4e00\u79cd\u6280\u672f\u3002<\/span>\u8367\u5149\u6807\u8bb0\u7684\u5355\u94feDNA\u79f0\u4e3aFISH\u63a2\u9488\uff0c\u53ef\u4ee5\u6839\u636e\u76ee\u7684\u57fa\u56e0\u533a\u57df\u7684\u5e8f\u5217\u8fdb\u884c\u4efb\u610f\u8bbe\u8ba1\u3002\u7531\u4e8e\u5965\u5c14\u5e03\u8d56\u7279\u7efc\u5408\u75c7\u6837\u7684\u638c\u9aa8\u548c\u8dd6\u9aa8\u7f29\u77ed\u5e38\u5e38\u663e\u793a\u51fa\u67d3\u8272\u4f53\u672b\u7aef\u533a\u57df\u7684\u7f3a\u9677\uff0c\u6240\u4ee5\u7ecf\u5e38\u8bbe\u8ba1\u9488\u5bf9\u7aef\u7c92\u548c\u526f\u7aef\u7c92\u533a\u57df\u7684FISH\u63a2\u9488\uff0c\u6709\u4e9b\u63a2\u9488\u5df2\u7ecf\u4f5c\u4e3a\u8bd5\u5242\u76d2\u5728\u5e02\u573a\u4e0a\u9500\u552e\u3002\u5728\u8fd9\u4e9b\u591a\u6570\u91cd\u590d\u7684\u533a\u57df\uff0cFISH\u63a2\u9488\u4ee5\u591a\u4e2a\u6570\u503c\u7ed3\u5408\uff0c\u8fd9\u589e\u52a0\u4e86\u8367\u5149\u8272\u7d20\u7684\u6709\u6548\u6d53\u5ea6\u5e76\u589e\u5f3a\u4e86\u4fe1\u53f7\u3002\u53e6\u4e00\u65b9\u9762\uff0c\u5982\u679c\u53d1\u751f\u4e86\u7f3a\u5931\uff0cFISH\u63a2\u9488\u5c31\u4e0d\u80fd\u4e0e\u76ee\u6807\u533a\u57df\u7ed3\u5408\uff0c\u5e76\u88ab\u968f\u540e\u7684\u6d17\u6da4\u64cd\u4f5c\u6d17\u6389\uff0c\u56e0\u6b64\u5c31\u68c0\u6d4b\u4e0d\u5230\u8367\u5149\u4fe1\u53f7\u3002\u56e0\u6b64\uff0c\u7528DAPI\u6216Hoechst\u7b49\u4e0eDNA\u7279\u5f02\u6027\u7ed3\u5408\u7684\u67d3\u6599\u67d3\u8272\u67d3\u8272\u4f53\u5e76\u4e0eFISH\u63a2\u9488\u6742\u4ea4\uff0c\u53ef\u4ee5\u7ed8\u5236\u51fa\u76ee\u6807\u533a\u57df\u5b58\u5728\u4e8e\u67d3\u8272\u4f53\u4e0a\u7684\u54ea\u4e2a\u533a\u57df\u3002<span class=\"y_marker\">FISH\u65b9\u6cd5\u662f\u4e00\u79cd\u53ef\u4ee5\u68c0\u6d4b\u6781\u5c0f\u533a\u57df\u7f3a\u635f\u7684\u6280\u672f\uff0c\u53ef\u4ee5\u9ad8\u7cbe\u5ea6\u8bca\u65ad\u5965\u5c14\u5e03\u8d56\u7279\u7efc\u5408\u75c7\u638c\u9aa8\u548c\u8dd6\u9aa8\u7f29\u77ed\u3002<\/span>\u4f46\u662f\uff0c\u7f3a\u5931\u533a\u57df\u5fc5\u987b\u5305\u542bFISH\u63a2\u9488\u7684\u76ee\u6807\u5e8f\u5217\u3002\u5728\u67d0\u4e9b\u60c5\u51b5\u4e0b\uff0c\u4e9a\u7aef\u7c92\u533a\u7684\u4e2d\u95f4\u90e8\u5206\u5df2\u7ecf\u7f3a\u5931\uff0c\u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u5982\u679c\u5c06FISH\u63a2\u9488\u8bbe\u8ba1\u5728\u7aef\u7c92\u533a\uff0c\u4f1a\u5bfc\u81f4\u5047\u9634\u6027\u800c\u65e0\u6cd5\u68c0\u6d4b\u5230\uff0c\u6240\u4ee5FISH\u7684\u9009\u62e9\u548c\u8bbe\u8ba1\u63a2\u5934\u6781\u5176\u91cd\u8981\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-2\"><span class=\"ez-toc-section\" id=\"DNA%E5%BE%AE%E9%98%B5%E5%88%97\"><\/span>DNA\u5fae\u9635\u5217<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4f7f\u7528\u5c06\u5df2\u77e5<span class=\"y_marker\">DNA\u7247\u6bb5\uff08\u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b\u662f\u6574\u4e2a\u4eba\u7c7b\u57fa\u56e0\u7ec4\u7684\u7247\u6bb5\uff09\u5bc6\u96c6\u653e\u7f6e\u5728\u57fa\u677f\u4e0a\u7684\u82af\u7247\uff0c\u5c06\u4ece\u5f85\u68c0\u67e5\u7684\u7ec4\u7ec7\u4e2d\u63d0\u53d6\u7684DNA\u4e0e\u4f5c\u4e3a\u5bf9\u7167\u7684\u5177\u6709\u6b63\u5e38\u5e8f\u5217\u7684DNA\u6742\u4ea4\u548c\u6bd4\u8f83\u7684\u65b9\u6cd5\u3002<\/span>\u5982\u679c\u6837\u54c1\u4e2d\u542b\u6709\u57fa\u8d28\u4e0a\u7684\u4e92\u8865DNA\u7247\u6bb5\uff0c\u5b83\u4eec\u4f1a\u4e0e\u57fa\u8d28\u4e0a\u7684\u4e92\u8865\u5e8f\u5217\u7ed3\u5408\u5e76\u53d1\u51fa\u8367\u5149\u3002\u901a\u8fc7\u6bd4\u8f83\u82af\u7247\u4e0a\u7684\u8367\u5149\u4fe1\u53f7\u4e0e\u5bf9\u7167\u7684\u7a7a\u95f4\u5206\u5e03\uff0c\u6709\u53ef\u80fd\u5bf9\u57fa\u56e0\u7ec4\u4e2d\u54ea\u91cc\u53d1\u751f\u4e86\u7f3a\u9677\u8fdb\u884c\u5168\u9762\u5206\u6790\u3002\u8fd9\u6837\u7684\u65b9\u6cd5\u5177\u4f53\u79f0\u4e3aCGH\uff08Comparative genomic hybridization\uff09\u5fae\u9635\u5217\u3002\u8be5\u65b9\u6cd5\u5206\u6790\u67d3\u8272\u4f53\u4e0a\u57fa\u56e0\u4f4d\u70b9\u62f7\u8d1d\u6570\u7684\u53d8\u5316\uff0c\u867d\u7136\u62f7\u8d1d\u6570\u589e\u52a0\u53ef\u4ee5\u4ee5\u9ad8\u7075\u654f\u5ea6\u68c0\u6d4b\uff0c\u800c\u90e8\u5206\u7f3a\u5931\u57285\uff5e10 Mbp\u7684\u5927\u5c0f\u4ee5\u4e0b\u96be\u4ee5\u68c0\u6d4b\u5230\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/patau-syndrome\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">13\u30c8\u30ea\u30bd\u30df\u30fc(\u30d1\u30c8\u30a6\u75c7\u5019\u7fa4)\u3068\u306f\uff1f\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">13\u30c8\u30ea\u30bd\u30df\u30fc\u306f\u30d1\u30c8\u30a6\u75c7\u5019\u7fa4\u3068\u3082\u3044\u3044\u30015,000\u4eba\u301c12,000\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u751f\u307e\u308c\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u5148\u5929\u7684\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u3067\u3059\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c5\"><span class=\"ez-toc-section\" id=\"%E6%9C%AA%E6%9D%A5%E5%B1%95%E6%9C%9B\"><\/span>\u672a\u6765\u5c55\u671b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd1\u5e74\u6765\uff0c\u901a\u8fc7\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u4eea\uff08next-generation-sequencing\uff09\u57fa\u56e0\u7ec4\u5e8f\u5217\u5206\u6790\u5f97\u5230\u4e86\u53d1\u5c55\uff0c\u9884\u8ba1\u5c06\u4e0egenotype-phenotype\u7684\u5173\u8054\u9ad8\u5ea6\u76f8\u5173\u3002\u7136\u800c\uff0c\u7531\u4e8e\u8bbe\u5907\u672c\u8eab\u7684\u6210\u672c\u548c\u8fd0\u884c\u6210\u672c\uff0c\u5c06\u8fd9\u79cd\u65b9\u6cd5\u7528\u4e8e\u5b9e\u9645\u8bca\u65ad\u5e94\u7528\u8fd8\u4e0d\u73b0\u5b9e\u3002\u4e0a\u9762\u63d0\u5230\u7684\u4e24\u79cd\u65b9\u6cd5\u662f\u76f8\u5bf9\u4fbf\u5b9c\u7684\uff0c\u56e0\u4e3a\u5b83\u4eec\u662f\u57fa\u4e8e\u8367\u5149\u68c0\u6d4b\u7684\u539f\u7406\uff0c\u8fd9\u4e9b\u65b9\u6cd5\u5b9e\u9645\u4e0a\u662f\u7528\u4e8e\u75c5\u7406\u8bca\u65ad\u7684\u5e94\u7528\u3002\u76ee\u524d\uff0c\u4ee5\u76f8\u5bf9\u8f83\u4f4e\u7684\u6210\u672c\u8fdb\u884c\u5916\u5305\u5df2\u6210\u4e3a\u53ef\u80fd\uff0c\u800c\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u4eea\u8bbe\u5907\u672c\u8eab\u7684\u4ef7\u683c\u4e5f\u5728\u9010\u6b65\u4e0b\u964d\uff0c\u5728\u8bd5\u5242\u7b49\u65b9\u9762\uff0c\u6211\u4eec\u6b63\u5728\u8bbe\u8ba1\u901a\u8fc7\u4ee5\u534f\u540c\u65b9\u5f0f\u540c\u65f6\u5206\u6790\u591a\u4e2a\u6837\u672c\u6765\u51cf\u5c11\u8fd0\u884c\u6b21\u6570\u6765\u964d\u4f4e\u8fd0\u884c\u6210\u672c\u7684\u65b9\u6cd5\u3002<\/p>\n\n\n\n<p>\u4eca\u540egenotype-phenotype\u5173\u8054\u8fdb\u4e00\u6b65\u53d1\u5c55\uff0c\u5219\u53ef\u4ee5\u6839\u636e\u7f3a\u5931\u4f4d\u7f6e\u548c\u5927\u5c0f\u9884\u6d4b\u4f1a\u51fa\u73b0\u4ec0\u4e48\u6837\u7684\u75c7\u72b6\u3002\u8fd9\u4e0d\u4ec5\u6709\u52a9\u4e8e\u9610\u660e<span class=\"y_marker\">\u5965\u5c14\u5e03\u8d56\u7279\u7efc\u5408\u75c7\u638c\u9aa8\u548c\u8dd6\u9aa8\u7f29\u77ed\u7684\u539f\u56e0\u548c\u5f00\u53d1\u6cbb\u7597\u65b9\u6cd5\uff0c\u800c\u4e14\u6709\u52a9\u4e8e\u9610\u660e\u5176\u4ed6\u91cd\u8981\u7684\u9057\u4f20\u6027\u75be\u75c5\u3002<\/span>\u7279\u522b\u662f2q37.3\u533a\u57df\u88ab\u8ba4\u4e3a\u5305\u542b\u4e0e\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u53d1\u75c5\u76f8\u5173\u7684\u5019\u9009\u57fa\u56e0\uff0c\u53ef\u4ee5\u8bf4\u662f\u4e00\u4e2a\u91cd\u8981\u7684\u57fa\u56e0\u7ec4\u533a\u57df\u3002240.1-242.2 Mb\u7684\u6700\u5c0f\u7f3a\u5931\u95f4\u9694\u53ef\u5bfc\u81f4\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u3001\u8fc7\u5ea6\u8fd0\u52a8\u884c\u4e3a\u548c\u766b\u75eb\uff0c\u5e76\u4e14\u5305\u542b\u7a81\u89e6\u5c0f\u6ce1\u7684\u8f74\u7a81\u8f6c\u8fd0\u86cb\u767d\u7b49\u81f3\u5c1129\u4e2a\u57fa\u56e0\u3002\u6709\u8da3\u7684\u662f\u8fd9\u4e2a2.1 Mb\u7684\u7f3a\u5931\u533a\u95f4\u4e0e\u6e7f\u75b9\u7684\u6700\u5c0f\u7f3a\u5931\u533a\u95f4\uff081.5 Mb\uff09\u76f8\u91cd\u5408\u3002\u8fd1\u5e74\u6765\uff0c\u6709\u4eba\u6307\u51fa\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u4e0e\u7279\u5e94\u6027\u76ae\u708e\u4e4b\u95f4\u5b58\u5728\u5173\u8054\uff0c\u5c3d\u7ba1\u8fd9\u5c1a\u672a\u5f97\u5230\u8bc1\u5b9e\uff0c\u4f46\u4ece\u7f3a\u5931\u95f4\u9694\u7684\u91cd\u5408genotype-phenotype\u7684\u89c2\u70b9\u6765\u770b\u4f3c\u4e4e\u5408\u7406\u3002\u56e0\u6b64\uff0c\u7531\u4e8e2q37\u533a\u57df\u7684\u7f3a\u5931\u5df2\u88ab\u89c2\u5bdf\u5230\u6709\u4e0d\u540c\u7684\u8868\u73b0\uff0c\u8fdb\u884c\u66f4\u8be6\u7ec6\u7684\u5206\u6790\uff0c\u53ef\u80fd\u4f1a\u53d1\u73b0\u75be\u75c5\u4e4b\u95f4\u610f\u60f3\u4e0d\u5230\u7684\u5173\u8054\u3002\u5982\u679c\u8fd9\u6837\u7684\u8bdd\uff0c<span class=\"y_marker\">\u6211\u4eec\u4e0d\u4ec5\u53ef\u4ee5\u671f\u5f85\u5f00\u53d1\u5168\u65b0\u7684\u6cbb\u7597\u65b9\u6cd5\uff0c\u8fd8\u53ef\u4ee5\u8fdb\u4e00\u6b65\u671f\u5f85\u73b0\u6709\u7684repurposing\u836f\u7269\u548c\u6cbb\u7597\u65b9\u6cd5\u3002<\/span><\/p>\n\n\n<p style=\"width:100%;max-width:300px;margin:0 auto;\"><a href=\"\/nipt\/\" class=\"content-bnr about\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/themes\/hiro_nipt\/img\/banner\/nipt04pc.png\" alt=\"\u80ce\u5150\u306e\u6027\u5225\u306f10\u9031\u76ee\u3067\u308f\u304b\u308b\"><\/a> <\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c6\"><span class=\"ez-toc-section\" id=\"%E6%91%98%E8%A6%81\"><\/span>\u6458\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u6587\u4ecb\u7ecd\u4e86\u5965\u5c14\u5e03\u8d56\u7279\u7efc\u5408\u75c7\u6837\u638c\u9aa8\u548c\u8dd6\u9aa8\u7f29\u77ed\uff0c\u8fd9\u662f\u4e00\u79cd\u75312q37\u7f3a\u5931\u7684\u57fa\u56e0\u7ec4\u533a\u57df\u7f3a\u5931\u5f15\u8d77\u7684\u9057\u4f20\u75be\u75c5\u3002\u7531\u4e8e\u662f\u6781\u4e3a\u7f55\u89c1\u7684\u75be\u75c5\uff0c\u8fd8\u6709\u5f88\u591a\u672a\u77e5\u70b9\uff0c\u672a\u6765\u5c06\u901a\u8fc7\u79ef\u6781\u7ed3\u5408\u6700\u65b0\u7684\u9057\u4f20\u5b66\u65b9\u6cd5\uff0c\u5e0c\u671b\u4eca\u540e\u80fd\u79ef\u6781\u7ed3\u5408\u6700\u65b0\u7684\u9057\u4f20\u6280\u672f\uff0c\u5bf9\u8be5\u75c5\u7684\u673a\u5236\u548c\u57fa\u56e0\u578bgenotype-phenotype\u8fdb\u884c\u5206\u5b50\u751f\u7269\u5b66\u5206\u6790\u3002\u8fd9\u4e9b\u4fe1\u606f\u4e5f\u6709\u671b\u5e2e\u52a9\u9610\u660e\u5176\u4ed6\u9057\u4f20\u75be\u75c5\u7684\u673a\u5236\u3001\u8bca\u65ad\u65b9\u6cd5\u548c\u6cbb\u7597\u65b9\u6cd5\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=zh-hans\">Hiro\u8bca\u6240NIPT<\/a>\uff0c<span class=\"y_marker\">\u4e5f\u63d0\u4f9b\u8fd9\u79cd\u67d3\u8272\u4f53\u7684\u90e8\u5206\u7f3a\u5931\u548c\u91cd\u590d<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5e38\u67d3\u8272\u4f53\u5168\u9886\u57df\u90e8\u5206\u7f3a\u5931\u30fb\u91cd\u590d\u75be\u75c5<\/a>\u7684\u8bca\u65ad\u3002<\/span>\u8bf7\u8003\u8651\u7ed3\u5408\u5168\u67d3\u8272\u4f53\u6765\u8fdb\u884c\u68c0\u6d4b\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/sotos-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08Sotos\u75c7\u5019\u7fa4\uff09\u306e\u539f\u56e0\u3068\u75c7\u72b6\u3068\u306f\uff1f\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08Sotos\u75c7\u5019\u7fa4\uff09\u306f\u3001\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u904e\u6210\u9577\u75be\u60a3\u306e1\u3064\u3067\u3042\u308a\u3001\u4e00\u822c\u306b\u5c0f\u5150\u671f\u306b\u816b\u760d\u3092\u767a\u751f\u3057\u3084\u3059\u304f\u306a\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u72ec\u7279\u306e\u9854...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c7\"><span class=\"ez-toc-section\" id=\"%E8%84%9A%E6%B3%A8\"><\/span>\u811a\u6ce8<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>(*1) <i>de novo<\/i>\u53d8\u5f02\uff1a\u6240\u8c13\u7684\u7a81\u53d8\uff0c\u4e0d\u662f\u4ece\u7236\u6bcd\u90a3\u91cc\u9057\u4f20\u6765\u7684\u7a81\u53d8\uff0c\u800c\u662f\u4e2a\u4f53\u4e2d\u65b0\u51fa\u73b0\u7684\u7a81\u53d8\u3002\u4e5f\u53eb\u65b0\u751f\u53d8\u5f02\u3002<\/li>\n\n\n\n<li>(*2) <i>HDAC4<\/i>\u57fa\u56e0\uff1a\u86cb\u767d\u53bb\u7532\u57fa\u5316\u9176\uff08HDAC4\uff09\u7684\u7f16\u7801\u7ec4\u57fa\u56e0\u3002\u901a\u8fc7Transforming growth factor \u03b21 (TGF-\u03b21)\u5728\u8bf1\u5bfc\u7ea4\u7ef4\u7ec6\u80de\u5411\u6210\u808c\u7ec6\u80de\u5206\u5316\u4e2d\u8d77\u91cd\u8981\u4f5c\u7528\u3002<\/li>\n\n\n\n<li>(*3) \u5965\u5c14\u5e03\u8d56\u7279\u9057\u4f20\u6027\u9aa8\u8425\u517b\u4e0d\u826f\u7efc\u5408\u75c7\uff1a\u7279\u522b\u662f\u5f53\u8eab\u4f53\u548c\u667a\u529b\u53d1\u80b2\u969c\u788d\u3001\u77ed\u6307\u75c7\u3001\u8eab\u6750\u77ee\u5c0f\u3001\u80a5\u80d6\u540c\u65f6\u5b58\u5728\u65f6\uff0c\u4f1a\u8fd9\u6837\u79f0\u547c\u3002<\/li>\n\n\n\n<li>(*4) \u6838\u578b\u5206\u6790\uff1a\u4f7f\u7528\u67d3\u8272\u4f53\u7684\u7279\u75c7\u5e26\u6a21\u5f0f\u8fdb\u884c\u6838\u578b\u5206\u6790\u3002\u5305\u62ec\u4f7f\u7528Hoechst\u8272\u7d20\u7684Q-band\u5206\u6790\u548c\u4f7f\u7528Giemsa\u67d3\u8272\u7684G-band\u5206\u6790\uff0c\u8fd9\u53ef\u4ee5\u4ece\u67d3\u8272\u4f53\u7ed3\u6784\u4e2d\u7b80\u5355\u5730\u786e\u5b9a\u67d3\u8272\u4f53\u7684\u7279\u6027\u3001\u500d\u6027\u548c\u6613\u4f4d\u7b49\u60c5\u51b5\u3002<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"\u6982\u8981 \u539f\u56e0 \u75c7\u72b6 \u8bca\u65ad FISH\u6cd5 DN&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/albright-2q37\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":5238,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[244],"tags":[],"class_list":["post-41984","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/41984","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=41984"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/41984\/revisions"}],"predecessor-version":[{"id":118336,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/41984\/revisions\/118336"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/5238"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=41984"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=41984"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=41984"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}