{"id":50281,"date":"2020-08-04T00:00:00","date_gmt":"2020-08-04T00:00:00","guid":{"rendered":"https:\/\/www.cpr.cuhk.edu.hk\/press\/cuhk-pioneers-whole-genome-sequencing-for-identifying-the-chromosomal-abnormalities-in-couples-with-recurrent-miscarriages\/"},"modified":"2020-08-04T00:00:00","modified_gmt":"2020-08-04T00:00:00","slug":"cuhk-pioneers-whole-genome-sequencing-for-identifying-the-chromosomal-abnormalities-in-couples-with-recurrent-miscarriages","status":"publish","type":"press","link":"https:\/\/www.cpr.cuhk.edu.hk\/tc\/press\/cuhk-pioneers-whole-genome-sequencing-for-identifying-the-chromosomal-abnormalities-in-couples-with-recurrent-miscarriages\/","title":{"rendered":"\u4e2d\u5927\u5168\u57fa\u56e0\u7d44\u6e2c\u5e8f\u6280\u8853\u70ba\u6163\u6027\u6d41\u7522\u592b\u5a66\u4f5c\u66f4\u7cbe\u6e96\u7684\u907a\u50b3\u75c5\u56e0\u6aa2\u6e2c\u53ca\u8a3a\u65b7"},"content":{"rendered":"","protected":false},"featured_media":0,"template":"","tags":[],"class_list":["post-50281","press","type-press","status-publish","hentry"],"acf":{"title_alt":"","sub_title_alt":"","press_date":"20200804","keep":false,"details":"<p>\u6163\u6027\u6d41\u7522\u5c0d\u5e0c\u671b\u751f\u80b2\u7684\u592b\u5a66\u9020\u6210\u83ab\u5927\u56f0\u64fe\uff0c\u6709\u90e8\u5206\u500b\u6848\u56e0\u91ab\u5b78\u6280\u8853\u9650\u5236\u4e00\u76f4\u7121\u6cd5\u627e\u5230\u6d41\u7522\u539f\u56e0\u3002\u9999\u6e2f\u4e2d\u6587\u5927\u5b78\uff08\u4e2d\u5927\uff09\u91ab\u5b78\u9662\u5a66\u7522\u79d1\u5b78\u7cfb\u6210\u529f\u7814\u767c\u5168\u57fa\u56e0\u7d44\u6e2c\u5e8f\u6280\u8853<strong><em>ChromoSeq<\/em><\/strong>\uff0c\u70ba\u7d93\u6b77\u6163\u6027\u6d41\u7522\u7684\u592b\u5a66\u63d0\u4f9b\u907a\u50b3\u75c5\u56e0\u8a3a\u65b7\u3002\u8207\u76ee\u524d\u63a1\u7528\u7684\u67d3\u8272\u9ad4\u6838\u578b\u5206\u6790\u76f8\u6bd4\uff0c\u65b0\u6280\u8853\u53ef\u4ee5\u66f4\u7cbe\u6e96\u6aa2\u6e2c\u51fa\u8207\u6163\u6027\u6d41\u7522\u76f8\u95dc\u7684\u57fa\u56e0\u7570\u5e38\u3002\u6709\u95dc\u7814\u7a76\u7d50\u679c\u5df2\u65bc\u570b\u969b\u671f\u520a<strong><em>American Journal of Human Genetics<\/em><\/strong>\u767c\u8868\u3002<\/p><p><strong>\u4e86\u89e3\u7236\u6bcd\u57fa\u56e0\u7570\u5e38\u6216\u53ef\u907f\u514d\u6163\u6027\u6d41\u7522\u767c\u751f<\/strong><\/p><p>\u6163\u6027\u6d41\u7522\u662f\u6307\u9023\u7e8c\u5169\u6b21\u6216\u4ee5\u4e0a\u7d93\u81e8\u5e8a\u78ba\u8a8d\u7684\u6d41\u7522\uff0c\u5f71\u97ff\u5168\u74031\u81f32%\u7684\u592b\u5a66\u3002\u5b55\u5a66\u842c\u4e00\u4e0d\u5e78\u53cd\u8986\u6d41\u7522\uff0c\u4e0d\u4f46\u9700\u8981\u63a5\u53d7\u591a\u6b21\u91ab\u7642\u7a0b\u5e8f\u6216\u624b\u8853\u6cbb\u7642\uff0c\u5979\u8207\u4e08\u592b\u4ea6\u8981\u9762\u5c0d\u96a8\u4e4b\u800c\u4f86\u7684\u5fc3\u7406\u58d3\u529b\uff0c\u9084\u6709\u5a5a\u59fb\u53ca\u793e\u6703\u58d3\u529b\u3002\u6163\u6027\u6d41\u7522\u500b\u6848\u4e2d\uff0c\u6709\u56db\u81f3\u4e94\u6210\u53ef\u4ee5\u900f\u904e\u6aa2\u6e2c\uff0c\u5f9e\u5167\u5206\u6ccc\u3001\u514d\u75ab\u53ca\u89e3\u5256\u75c5\u7406\u5b78\uff08\u5982\u5b50\u5bae\u7d50\u69cb\u7570\u5e38\uff09\u7b49\u65b9\u9762\u5c0b\u627e\u539f\u56e0\u3002\u7d04\u67092\u81f35%\u53ef\u5f9e\u50b3\u7d71\u7684\u67d3\u8272\u9ad4\u6838\u578b\u5206\u6790\u6aa2\u6e2c\u51fa\u67d3\u8272\u9ad4\u6216\u57fa\u56e0\u7570\u5e38\uff1b\u9918\u4e0b\u7684\u4e00\u534a\u500b\u6848\u5373\u4f7f\u63a5\u53d7\u591a\u7a2e\u6e2c\u8a66\uff0c\u4ecd\u5f97\u4e0d\u5230\u7b54\u6848\u3002\u6709\u90e8\u5206\u592b\u5a66\u7684\u67d3\u8272\u9ad4\u6216\u57fa\u56e0\u7684\u7570\u5e38\u60c5\u6cc1\u8f03\u7d30\u5fae\uff0c\u50b3\u7d71\u7684\u67d3\u8272\u9ad4\u6838\u578b\u5206\u6790\u6aa2\u6e2c\u6216\u6703\u907a\u6f0f\u9019\u4e00\u985e\u7fa4\u7d44\u3002\u82e5\u7d93\u904e\u6e2c\u8a66\u78ba\u8a8d\u6709\u907a\u50b3\u7570\u5e38\uff0c\u53ef\u4ee5\u9078\u64c7\u4eba\u5de5\u53d7\u5b55\uff0c\u914d\u5408\u80da\u80ce\u690d\u5165\u524d\u57fa\u56e0\u6e2c\u8a66\uff0c\u907f\u514d\u53d7\u5f71\u97ff\u7684\u80da\u80ce\u9032\u884c\u690d\u5165\u64cd\u4f5c\uff0c\u6e1b\u4f4e\u6d41\u7522\u6a5f\u7387\u3002<\/p><p>\u4e2d\u5927\u91ab\u5b78\u9662\u5a66\u7522\u79d1\u5b78\u7cfb\u7cfb\u4e3b\u4efb<strong>\u6881\u5fb7\u694a\u6559\u6388<\/strong>\u8868\u793a\uff1a\u300c\u6163\u6027\u6d41\u7522\u70ba\u592b\u5a66\u5e36\u4f86\u5fc3\u7406\u548c\u7d93\u6fdf\u8ca0\u64d4\u3002\u8eab\u9ad4\u69cb\u9020\u3001\u6297\u78f7\u8102\u7d9c\u5408\u75c7\u3001\u5167\u5206\u6ccc\u6216\u67d3\u8272\u9ad4\u7570\u5e38\u5747\u662f\u6163\u6027\u6d41\u7522\u6700\u5e38\u898b\u7684\u75c5\u56e0\u3002\u4e0d\u904e\uff0c\u4ecd\u6709\u5f88\u591a\u6163\u6027\u6d41\u7522\u500b\u6848\u7684\u75c5\u56e0\u672a\u660e\uff0c\u91ab\u751f\u96e3\u4ee5\u63d0\u4f9b\u5408\u9069\u7684\u8f14\u5c0e\u53ca\u6cbb\u7642\u3002\u300d<\/p><p><strong>\u57fa\u56e0\u6e2c\u5e8f\u6280<\/strong><strong>\u8853<\/strong><strong>\u8f03\u50b3\u7d71<\/strong><strong>\u6838\u578b\u5206\u6790\u6aa2\u6e2c\u51fa\u66f4\u591a\u53ca\u66f4\u5177\u81e8\u5e8a\u610f<\/strong><strong>\u7fa9<\/strong><strong>\u7684<\/strong><strong>\u67d3\u8272\u9ad4\u7570\u5e38<\/strong><\/p><p>\u4e2d\u5927\u91ab\u5b78\u9662\u5a66\u7522\u79d1\u5b78\u7cfb\u70ba\u4e9e\u592a\u5340\u9996\u500b\u767c\u5c55\u4ee5\u57fa\u56e0\u6e2c\u5e8f\u6280\u8853\u4f5c\u7522\u524d\u57fa\u56e0\u8a3a\u65b7\u7684\u7814\u7a76\u5718\u968a\u3002\u7d93\u904e\u5927\u91cf\u7684\u81e8\u5e8a\u6a23\u672c\u9a57\u8b49\uff0c\u4e2d\u5927\u65bc\u53bb\u5e74\u6b63\u5f0f\u63a8\u51fa<strong><em>FetalSeq<\/em><\/strong>\u80ce\u5152\u6e2c\u5e8f\u5e73\u53f0\u4f5c\u81e8\u5e8a\u670d\u52d9\u3002\u5718\u968a\u65bc\u4eca\u5e74\u5c07\u6280\u8853\u518d\u6539\u9032\uff0c\u63a8\u51fa\u9032\u968e\u7248\u7684\u57fa\u56e0\u6e2c\u5e8f\u6280\u8853<strong><em>ChromoSeq<\/em><\/strong>\uff0c\u53ef\u4ee5\u66f4\u5168\u9762\u6aa2\u67e5\u67d3\u8272\u9ad4\u7d50\u69cb\uff0c\u4e0d\u55ae\u80fd\u5920\u6aa2\u6e2c\u51fa\u67d3\u8272\u9ad4\u7684\u5fae\u7f3a\u5931\u6216\u5fae\u91cd\u8907\uff0c\u540c\u6642\u53ef\u4ee5\u7cbe\u6e96\u5730\u6aa2\u6e2c\u7d50\u69cb\u91cd\u65b0\u6392\u5217\u53ca\u96dc\u5408\u6027\u7f3a\u5931\uff08\u5982\u55ae\u89aa\u4e8c\u500d\u9ad4\uff09\u7b49\u7570\u5e38\u3002\u65b0\u6280\u8853\u5c24\u5176\u6709\u6548\u6aa2\u67e5\u6163\u6027\u6d41\u7522\u592b\u5a66\u4e8c\u4eba\u7684\u67d3\u8272\u9ad4\u7247\u6bb5\u6709\u5426\u51fa\u73fe\u91cd\u65b0\u6392\u5217\uff0c\u4f8b\u5982\u300c\u5e73\u8861\u6613\u4f4d\u300d\uff0c\u5373\u5169\u500b\u67d3\u8272\u9ad4\u4e4b\u9593\u7684\u67d3\u8272\u9ad4\u7247\u6bb5\u4ea4\u63db\uff0c\u9019\u6975\u6709\u53ef\u80fd\u4ee4\u80ce\u5152\u907a\u50b3\u5230\u6709\u7f3a\u5931\u7684\u67d3\u8272\u9ad4\u7247\u6bb5\uff0c\u56e0\u800c\u5c0e\u81f4\u6d41\u7522\u6216\u80ce\u5152\u5148\u5929\u7f3a\u9677\u3002<\/p><p>\u4e2d\u5927\u91ab\u5b78\u9662\u5a66\u7522\u79d1\u5b78\u7cfb\u7814\u7a76\u52a9\u7406\u6559\u6388<strong>\u8463\u6893\u745e\u535a\u58eb<\/strong>\u8868\u793a\uff1a\u300c\u6838\u578b\u5206\u6790\u662f\u4e00\u7a2e\u4f4e\u5206\u8fa8\u7387\u6280\u8853\uff0c\u5176\u7d30\u7dfb\u7a0b\u5ea6\u4f9d\u8cf4\u65bc\u5be6\u9a57\u8cea\u7d20\u53ca\u67d3\u8272\u9ad4\u5728\u986f\u5fae\u93e1\u4e0b\u5448\u73fe\u7684\u6a21\u6a23\uff1b\u57fa\u56e0\u7d44\u6e2c\u5e8f\u5247\u662f\u4e00\u7a2e\u8f03\u5148\u9032\u7684\u6280\u8853\uff0c\u6aa2\u6e2c\u5206\u8fa8\u7387\u9ad8\u4e00\u767e\u842c\u500d\u3002\u5718\u968a\u7814\u767c\u7684\u67d3\u8272\u9ad4\u5168\u57fa\u56e0\u6e2c\u5e8f\u6aa2\u6e2c\u5e73\u53f0<strong><em>ChromoSeq<\/em><\/strong>\uff0c\u7528\u4ee5\u5206\u6790\u5168\u57fa\u56e0\u7d44\u7684\u67d3\u8272\u9ad4\u7d50\u69cb\u7570\u5e38\u3002\u76f8\u6bd4\u50b3\u7d71\u6838\u578b\u5206\u6790\uff0c<strong><em>ChromoSeq<\/em><\/strong>\u6e2c\u5e8f\u5e73\u53f0\u80fd\u5920\u4ee5\u9ad8\u5206\u8fa8\u7387\u5075\u6e2c\u51fa\u67d3\u8272\u9ad4\u5e73\u8861\u6613\u4f4d\u3001\u5012\u4f4d\u6216\u5176\u4ed6\u66f4\u8907\u96dc\u7684\u7570\u5e38\u3002\u70ba\u6163\u6027\u6d41\u7522\u63d0\u4f9b\u8207\u7d30\u80de\u907a\u50b3\u5b78\u76f8\u95dc\u6216\u5176\u4ed6\u984d\u5916\u4fe1\u606f\u3002\u300d<\/p><p>\u4e2d\u5927\u91ab\u5b78\u9662\u5a66\u7522\u79d1\u5b78\u7cfb\u81e8\u5e8a\u526f\u6559\u6388<strong>\u937e\u4f69\u6a3a\u91ab\u751f<\/strong>\u8868\u793a\uff1a\u300c\u5728\u81e8\u5e8a\u7ba1\u7406\u4e2d\uff0c\u901a\u5e38\u5efa\u8b70\u70ba\u6d41\u7522\u7d44\u7e54\u9032\u884c\u907a\u50b3\u5b78\u7814\u7a76\u3002\u4f46\u5927\u591a\u6578\u592b\u5a66\u88ab\u8f49\u4ecb\u5230\u6211\u5011\u7684\u8a3a\u6240\u6642\uff0c\u90fd\u7121\u6cd5\u63d0\u4f9b\u6d41\u7522\u7d44\u7e54\u4f5c\u9032\u4e00\u6b65\u6aa2\u6e2c\u3002\u56e0\u6b64\uff0c\u70ba\u592b\u5a66\u4e8c\u4eba\u9032\u884c\u57fa\u56e0\u6e2c\u8a66\u6aa2\u6e2c\u4efb\u4f55\u907a\u50b3\u7570\u5e38\u5c31\u66f4\u898b\u91cd\u8981\u3002\u7576\u88ab\u9451\u5b9a\u51fa\u60a3\u6709\u67d3\u8272\u9ad4\u7570\u5e38\uff0c\u6211\u5011\u6703\u63a8\u85a6\u4ed6\u5011\u9032\u884c\u80da\u80ce\u690d\u5165\u524d\u57fa\u56e0\u6e2c\u8a66\uff0c\u4ee5\u6e1b\u5c11\u5c07\u4f86\u61f7\u5b55\u6642\u51fa\u73fe\u6d41\u7522\u7684\u6a5f\u6703\u3002\u300d<\/p><p>\u80da\u80ce\u690d\u5165\u524d\u57fa\u56e0\u6e2c\u8a66\u662f\u4e00\u7a2e\u80da\u80ce\u57fa\u56e0\u6aa2\u67e5\u6280\u8853\uff0c\u5728\u80da\u80ce\u79fb\u690d\u524d\uff0c\u70ba\u80da\u80ce\u9032\u884c\u67d3\u8272\u9ad4\u7570\u5e38\u6216\u7279\u5b9a\u57fa\u56e0\u7570\u5e38\u7684\u6aa2\u67e5\u3002\u6b64\u6280\u8853\u80fd\u907f\u514d\u56e0\u907a\u50b3\u4e86\u67d3\u8272\u9ad4\u7570\u5e38\u800c\u5e36\u6709\u57fa\u56e0\u7f3a\u5931\u7684\u80da\u80ce\u6240\u5f15\u8d77\u7684\u6d41\u7522\u3002\u6709\u8b49\u64da\u8b49\u660e\uff0c\u5e36\u6709\u67d3\u8272\u9ad4\u91cd\u65b0\u6392\u5217\u554f\u984c\u7684\u592b\u5a66\u9078\u64c7\u9032\u884c\u80da\u80ce\u690d\u5165\u524d\u57fa\u56e0\u6e2c\u8a66\uff0c\u76f8\u6bd4\u9078\u64c7\u81ea\u7136\u61f7\u5b55\uff0c\u6d41\u7522\u7387\u660e\u986f\u964d\u4f4e\u3002<\/p><p>\u70ba\u4e86\u8a55\u4f30<strong><em>ChromoSeq<\/em><\/strong>\u67d3\u8272\u9ad4\u6e2c\u5e8f\u5e73\u53f0\u8207\u50b3\u7d71\u6838\u578b\u5206\u6790\u5728\u6e96\u78ba\u6027\u3001\u529f\u6548\u53ca\u6aa2\u6e2c\u91cf\u7684\u5206\u5225\uff0c\u4e2d\u5927\u7814\u7a76\u5718\u968a\u8207\u5c71\u6771\u5927\u5b78\u65bc2004\u5e74\u81f32015\u5e74\u9593\u70ba1,090\u5c0d\u6163\u6027\u6d41\u7522\u592b\u5a66\uff0c\u63a1\u7528\u5169\u7a2e\u6aa2\u6e2c\u65b9\u6cd5\u9032\u884c\u67d3\u8272\u9ad4\u7570\u5e38\u5206\u6790\uff0c\u76f8\u95dc\u7d50\u679c\u7684\u91cd\u9ede\u5982\u4e0b\uff1a<\/p><ul><li>\u57281,090\u5c0d\u592b\u5a66\uff08\u5747\u5df2\u7372\u5f97\u50b3\u7d71\u6838\u578b\u5206\u6790\u8a3a\u65b7\u5831\u544a\uff09\u7576\u4e2d\uff0c<strong><em>C<\/em><\/strong><strong><em>hromoSeq<\/em><\/strong>\u67d3\u8272\u9ad4\u6e2c\u5e8f\u5e73\u53f0\u6210\u529f\u70ba1,077\u5c0d\u5b8c\u6210\u6aa2\u6e2c\u4e26\u5f97\u51fa\u7d50\u679c\uff0898.8%\uff09\uff0c\u4e26\u6aa2\u6e2c\u5230\u7576\u4e2d11.7% (126 \/ 1,077\u5c0d) 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