{"id":9278,"date":"2019-05-15T16:48:36","date_gmt":"2019-05-15T08:48:36","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&mid=100010194&idx=1&sn=26b0e74f0896743b5dfe1a6679b69752&chksm=6b715a655c06d3739df9041862787d7fb6e9cda36b6246ce820fc466bb8ac5132554f762e30d#rd"},"modified":"2026-04-08T10:23:48","modified_gmt":"2026-04-08T02:23:48","slug":"515251","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2019\/05\/15\/515251\/","title":{"rendered":"\u79d1\u5b66\u4eea\u5668\u53ca\u8bd5\u5242\u5173\u7a0e\u5c06\u52a0\u5f8125%\uff0c\u56fd\u4ea7\u54c1\u724c\u7684\u559c\u548c\u5fe7"},"content":{"rendered":"

<\/p>\n

\n\n
\n
\"RmFicvQBAkgCuC54K47siaoibvbClYbpoQdmoEA7Yo9T0l4l5c9wsK8DWv13zXvBYojNDUX4HpbxOEe8enSicCuVVg\"\/<\/figure><\/div>\n\n
\u5173\u952e\u8bcd\/\u8d38\u6613\u6218 \u5173\u7a0e \u79d1\u5b66\u4eea\u5668 \u8bd5\u5242<\/div>\n
\u201c\u5173\u7a0e\u539f\u662f\u4e00\u79cd\u4fdd\u9669\u8d39\uff0c\u5b83\u662f\u4e3a\u4e86\u9632\u5907\u9047\u654c\u8499\u53d7\u635f\u5931\u800c\u6295\u4fdd\u7684\uff0c\u6b63\u50cf\u73b0\u5728\u6d41\u884c\u7684\u5bf9\u4e8e\u6d77\u9669\u3001\u98ce\u9669\u3001\u6c14\u5019\u5f15\u8d77\u7684\u5371\u9669\u3001\u8239\u9669\u4ee5\u53ca\u5176\u4ed6\u4e00\u5207\u5371\u9669\u6240\u6295\u7684\u4fdd\u9669\u4e00\u6837\u3002\u201d\u2014\u2014\u3014\u82f1\u3015\u914d\u7b2c\u300a\u914d\u7b2c\u7ecf\u6d4e\u8457\u4f5c\u9009\u96c6\u300b\u300a\u8d4b\u7a0e\u8bba\u300b<\/div>\n
\u00a0<\/div>\n
\u4e00\u5173\u7a0e\u4e8b\u4ef6\u56de\u987e<\/div>\n
\u6839\u636e\u56fd\u52a1\u9662\u5b98\u7f51\u6d88\u606f\uff0c2019\u5e745\u67089\u65e5\uff0c\u7f8e\u56fd\u653f\u5e9c\u5ba3\u5e03\uff0c\u81ea2019\u5e745\u670810\u65e5\u8d77\uff0c\u5bf9\u4ece\u4e2d\u56fd\u8fdb\u53e3\u76842000\u4ebf\u7f8e\u5143\u6e05\u5355\u5546\u54c1\u52a0\u5f81\u7684\u5173\u7a0e\u7a0e\u7387\u753110%\u63d0\u9ad8\u523025%\u30025\u670813\u65e5\uff0c\u56fd\u52a1\u9662\u5173\u7a0e\u7a0e\u5219\u59d4\u5458\u4f1a\u51b3\u5b9a\uff0c\u81ea2019\u5e746\u67081\u65e5\u8d77\uff0c\u5bf9\u539f\u4ea7\u4e8e\u7f8e\u56fd\u7684\u90e8\u5206\u8fdb\u53e3\u5546\u54c1\u63d0\u9ad8\u52a0\u5f81\u5173\u7a0e\u7a0e\u7387[1]\u3002\u5176\u4e2d\u8bca\u65ad\u8bd5\u5242\uff08\u7a0e\u53f7\uff1a30063000\uff09\u5c5e\u4e8e\u52a0\u5f8125%\u5173\u7a0e\u7a0e\u7387\u7684\u5546\u54c1\u8303\u56f4\uff0c\u52a0\u5f815%\u5173\u7a0e\u7684\u6e05\u5355\u6d89\u53ca\u6c14\u76f8\u8272\u8c31\u4eea\u3001\u6db2\u76f8\u8272\u8c31\u4eea\u3001\u7535\u6cf3\u4eea\u3001\u8d28\u8c31\u8054\u7528\u4eea\u7b49\uff0c\u603b\u8ba1\u7ea6130\u4f59\u9879\u79d1\u5b66\u4eea\u5668\u53ca\u90e8\u4ef6\u52a0\u5f81\u5173\u7a0e\u3002<\/div>\n
\u00a0<\/div>\n
\u56de\u987e2018\u5e746\u670816\u65e5\uff0c\u56fd\u52a1\u9662\u5173\u7a0e\u7a0e\u5219\u59d4\u5458\u4f1a\u53d1\u5e03\u5173\u4e8e\u5bf9\u539f\u4ea7\u4e8e\u7f8e\u56fd500\u4ebf\u7f8e\u5143\u8fdb\u53e3\u5546\u54c1\u52a0\u5f81\u5173\u7a0e\u7684\u516c\u544a\uff1b\u7ea6\u4e24\u4e2a\u6708\u540e\uff0c\u6839\u636e\u6709\u5173\u90e8\u95e8\u3001\u884c\u4e1a\u534f\u4f1a\u3001\u4f01\u4e1a\u7684\u610f\u89c1\uff0c\u4e3a\u6700\u5927\u9650\u5ea6\u4fdd\u62a4\u56fd\u5185\u6d88\u8d39\u8005\u548c\u4f01\u4e1a\u5229\u76ca\uff0c\u56fd\u52a1\u9662\u5173\u7a0e\u7a0e\u5219\u59d4\u5458\u5bf9\u7f8e\u52a0\u5f81\u5173\u7a0e\u5546\u54c1\u6e05\u5355\u4e8c\u7684\u5546\u54c1\u4f5c\u9002\u5f53\u8c03\u6574\uff0c2018\u5e748\u67088\u65e5\uff0c\u539f\u6765\u5217\u5165\u6e05\u5355\u4e2d\u4e0e\u8bca\u65ad\u8bd5\u5242\u6709\u5173\u7684\u4ea7\u54c1\u7a0e\u53f738220010\u548c38220090\u88ab\u5220\u9664\u3002<\/div>\n
\u00a0<\/div>\n
\u65f6\u9694\u4e0d\u5230\u4e00\u5e74\uff0c\u8bca\u65ad\u8bd5\u5242\uff08\u7a0e\u53f7\uff1a30063000\uff09\u518d\u6b21\u5217\u4e3a\u52a0\u5f8125%\u5173\u7a0e\u7a0e\u7387\u7684\u5546\u54c1\u8303\u56f4\uff0c\u5f15\u8d77\u4e1a\u5185\u4eba\u58eb\u7684\u518d\u6b21\u8ba8\u8bba\u3002\u6709\u7684\u8868\u793a\u589e\u52a0\u4e86\u4f9b\u5e94\u94fe\u6210\u672c\uff0c\u6709\u7684\u8868\u793a\u662f\u56fd\u4ea7IVD\u7684\u673a\u4f1a\uff0c\u4e5f\u6709\u7684\u8868\u793a\u53ef\u4ee5\u4e0d\u540c\u7a0e\u53f7\u62a5\u5173\u6216\u8005\u671f\u5f85\u518d\u6b21\u88ab\u79fb\u9664\u6e05\u5355\u3002\u4ece\u5ba2\u89c2\u4e0a\u8bb2\uff0c\u8fd9\u662f\u5168\u7403\u653f\u6cbb\u73af\u5883\u4e0b\u201c\u4e0d\u5f97\u4e0d\u201d\u7684\u5b8f\u89c2\u8c03\u63a7\u505a\u6cd5\uff0c\u5e76\u975e\u6709\u610f\u5e72\u9884\u5e02\u573a\u7ecf\u6d4e\u79e9\u5e8f\u3002\u540c\u65f6\uff0c\u5173\u7a0e\u4e00\u65e6\u5b9e\u65bd\uff0c\u8fd9\u5bf9\u4e8e\u5168\u7403\u7684\u57fa\u56e0\u8bca\u65ad\u5e02\u573a\u4f1a\u5e26\u6765\u8f83\u5927\u7684\u5f71\u54cd\uff0c\u800c\u5bf9\u4e8e\u56fd\u4ea7\u54c1\u724c\u7684\u751f\u5b58\u548c\u53d1\u5c55\uff0c\u5229\u5f0a\u517c\u5177\u3002<\/div>\n
\u00a0<\/div>\n
\u4e8c\u57fa\u56e0\u8bca\u65ad\u4f9b\u5e94\u94fe\u7684\u56fd\u4ea7\u66ff\u4ee3\u54c1<\/div>\n
\u6211\u4eec\u5148\u4ece\u4f9b\u5e94\u94fe\u7ba1\u7406\u7684\u5f53\u4e0b\u8fd0\u8425\u95ee\u9898\u770b\u3002<\/div>\n
\u76ee\u524d\u57fa\u56e0\u8bca\u65ad\u5e02\u573a\u521a\u521a\u4ece\u4e00\u5e74\u591a\u7684\u8d44\u672c\u5bd2\u51ac\u7a0d\u677e\u4e00\u53e3\u6c14\u7684\u65f6\u673a\uff0c\u6210\u672c\u63a7\u5236\u548c\u73b0\u91d1\u6d41\u7ba1\u7406\u662f\u4f01\u4e1a\u7684\u7b2c\u4e00\u8981\u52a1\uff08\u6240\u4ee5\u770b\u5230\u90e8\u5206\u4f01\u4e1a\u5df2\u5f00\u59cb\u6218\u7565\u6027\u7cbe\u7b80\u90e8\u95e8\u548c\u88c1\u5458\uff0c\u805a\u7126\u76c8\u5229\u4e1a\u52a1\uff09\u3002<\/div>\n
\u5f53\u8fdb\u53e3\u8bca\u65ad\u8bd5\u5242\u5173\u7a0e\u63d0\u9ad8\uff0c\u9664\u4e86\u89c2\u671b\u653f\u7b56\u53d8\u5316\u548c\u62a5\u5173\u65b9\u5f0f\u8c03\u6574\u5916\uff0c\u4ece\u957f\u671f\u4f9b\u5e94\u94fe\u7ba1\u7406\uff0c\u4e2d\u4e0b\u6e38\u4f01\u4e1a\u548c\u4e34\u5e8a\u79d1\u7814\u673a\u6784\u5bfb\u627e\u56fd\u4ea7\u66ff\u4ee3\u54c1\u662f\u8fd0\u8425\u6240\u9700\u3002<\/div>\n
\u9996\u5148\uff0c\u8fd9\u91cc\u7b80\u8981\u68b3\u7406\u57fa\u56e0\u8bca\u65ad\u9886\u57df\u53ef\u80fd\u4f1a\u4f5c\u4e3a\u8fdb\u53e3\u66ff\u4ee3\u54c1\u7684\u56fd\u4ea7\u54c1\u724c\u4ee3\u8868\uff08\u4e0d\u5b8c\u5168\u7edf\u8ba1\uff0c\u629b\u7816\u5f15\u7389\uff0c\u758f\u6f0f\u4e4b\u5904\uff0c\u6b22\u8fce\u7559\u8a00\u8865\u5145\uff09\u3002<\/div>\n
\u00a0<\/div>\n
1. \u6d4b\u5e8f\u4eea<\/div>\n
\u5728\u5f53\u524d\u7684\u52a0\u5f81\u5173\u7a0e\u7a0e\u7387\u7684\u5546\u54c1\u6e05\u5355\u4e2d\uff0c\u5e76\u672a\u51fa\u73b0\u6d4b\u5e8f\u4eea\u5173\u952e\u8bcd\u3002\u4f46\u6211\u4eec\u77e5\u9053\uff0c\u8017\u6750\u8bd5\u5242\u3001\u6d4b\u5e8f\u4eea\u548c\u8bca\u65ad\u8bd5\u5242\u76ee\u524d\u57fa\u672c\u662f\u914d\u5957\u751f\u4ea7\u548c\u51fa\u552e\u7684\uff0c\u76f8\u4e92\u5f71\u54cd\u30022016\u5e74\u4e4b\u524d\u5e02\u9762\u4e0a\u751f\u4ea7\u7684\u4e3b\u6d41\u6d4b\u5e8f\u4eea\u4f9b\u5e94\u5546\u5305\u62ec\u7f8e\u56fdIllumina\u548cThermo Fisher\uff08\u4e8c\u4ee3\u6d4b\u5e8f\u4eea\uff09\u3001Nanopore\u548cPacBio\uff08\u4e09\u4ee3\u6d4b\u5e8f\u4eea\uff09\u7b49\u30022016\u5e74\u540e\uff0c\u534e\u5927\u96c6\u56e2\u65d7\u4e0b\u534e\u5927\u667a\u9020\uff08MGI\uff09\u91cf\u4ea7\u56fd\u4ea7\u6d4b\u5e8f\u4eea\uff08\u4e8c\u4ee3\uff09\uff0c\u8fd9\u662f\u76ee\u524d\u552f\u4e00\u4e00\u4e2a\u53ef\u7a33\u5b9a\u91cf\u4ea7\u4e14\u6295\u5165\u4f7f\u7528\u6d4b\u5e8f\u4eea\u7684\u56fd\u4ea7\u54c1\u724c\uff0c\u5f53\u524d\u5bf9\u6807Illumina\u3002<\/div>\n
\u00a0<\/div>\n
\u4f5c\u4e3a\u8fd1\u671f\u534e\u5927\u96c6\u56e2\u6218\u7565\u8c03\u6574\u540e\u6700\u91cd\u8981\u7684\u4e24\u5927\u677f\u5757\uff08\u53e6\u5916\u4e00\u4e2a\u662f\u4e0a\u5e02\u516c\u53f8\u534e\u5927\u57fa\u56e0\uff0c\u4e3b\u8981\u63d0\u4f9b\u533b\u5b66\u670d\u52a1\u548c\u79d1\u6280\u670d\u52a1\uff09\u4e4b\u4e00\uff0c\u534e\u5927\u667a\u9020\u5b9a\u4f4d\u4e8e\u201c\u751f\u547d\u79d1\u6280\u6838\u5fc3\u5de5\u5177\u7f14\u9020\u8005\u201d\uff0c\u6b63\u7b79\u5907\u4e0a\u5e02\u3002\u4e3b\u6253\u4ea7\u54c1\u662f\u9ad8\u901a\u91cf\u6d4b\u5e8f\u4eea\u4ee5\u53ca\u5173\u8054\u7684\u5efa\u5e93\u8bd5\u5242\u3001\u5de5\u4f5c\u7ad9\u7b49\u5e73\u53f0\u5efa\u8bbe\uff08\u5f53\u524d\u4e3b\u6253\u578b\u53f7\u4e3aMGISEQ-2000\uff09\uff0c\u540c\u65f6\u548c\u534e\u4e3a\u5408\u4f5c\u7684\u8fdc\u7a0b\u8d85\u58f0\u8bca\u65ad\u7cfb\u7edf\u5df2\u6295\u5165\u4f7f\u7528\uff0c\u5728\u5355\u7ec6\u80de\u67d3\u8272\u4f53\u53d8\u5f02\u68c0\u6d4b\u8bd5\u5242\u76d2\u7b49\u65b9\u9762\u4e5f\u6709\u5e03\u5c40\u3002\u6838\u5fc3\u4f18\u52bf\u662f\u5e76\u8d2dComplete Genomics\u57fa\u7840\u4e0a\u7684\u77e5\u8bc6\u4ea7\u6743\u548c\u5f53\u524d\u533a\u57df\u53d1\u5c55\u6a21\u5f0f\u4e0b\u7684\u8bae\u4ef7\u6743\u3002\u540c\u65f6\u4e5f\u5b58\u5728\u5c40\u9650\uff0c\u89c1\u4e0b\u6587\u3002<\/div>\n
\u00a0<\/div>\n
2. \u5206\u5b50\u9176<\/div>\n
DNA\u805a\u5408\u9176\u3001\u8fde\u63a5\u9176\u7b49\u5206\u5b50\u9176\u5236\u5242\u662f\u5206\u5b50\u8bca\u65ad\u5e94\u7528\u9886\u57df\u7684\u6838\u5fc3\u9176\u539f\u6599\uff0c\u540c\u65f6\u5bf9\u7814\u53d1\u548c\u751f\u4ea7\u8d28\u91cf\u4f53\u7cfb\u8981\u6c42\u4e25\u683c\u3002\u8001\u724c\u7684\u5206\u5b50\u9176\u5236\u5242\u516c\u53f8\u5305\u62ecThermo Fisher\u3001Roche\u3001NEB\u3001Promega\u3001Qiagen\u3001KAPA\u7b49\u3002<\/div>\n
\u56fd\u5185\u5206\u5b50\u9176\u4ee3\u8868\u4f01\u4e1a\u4e0d\u5c11\uff0c\u4ee5\u7fca\u5723\u751f\u7269\u4e3a\u4f8b\uff0c\u5728NGS\uff08\u9ad8\u901a\u91cf\u6d4b\u5e8f\uff09\u9886\u57df\u5bf9\u6807NEB\uff0c\u4ee3\u8868\u4ea7\u54c1\u5305\u62ecHieff qPCR SYBR Green Master Mix\u3001MaxUp II DNA\u5efa\u5e93\u8bd5\u5242\u76d2\u3001Canace\u9ad8\u4fdd\u771f\u9176\u7b49\u3002\u4ee5Hieff qPCR SYBR Green Master mix\u4ea7\u54c1\u4e3a\u4f8b\uff0c\u53ef\u4ee5\u533a\u52062\u500d\u4ee5\u4e0a\u57fa\u56e0\u7684\u8868\u8fbe\u91cf\u5dee\u5f02\uff0c\u53ef\u6ee1\u8db3\u4e8e\u79d1\u7814\u4e2d\u7684\u5927\u591a\u6570\u57fa\u56e0\u3002<\/div>\n
\u00a0<\/div>\n
3. \u57fa\u56e0\u6355\u83b7<\/div>\n
\u65e9\u671f\u7684\u57fa\u56e0\u6355\u83b7\u4ea7\u54c1\u4e3b\u8981\u7531\u4e24\u5927\u5382\u5546\u63d0\u4f9b\uff0c\u6765\u81ea\u7f8e\u56fd\u7684Agilent\u548cNimblegen\u30022007\u5e74Nimblegen\u88abRoche\u4ee52.725\u4ebf\u7f8e\u5143\u6536\u8d2d\u540e[2]\uff0c\u9664\u4e86Agilent\uff0cIllumina\u7684\u57fa\u56e0\u6355\u83b7\u548c\u8bd5\u5242\u5e73\u53f0\u4e5f\u53d1\u5c55\u8d77\u6765\uff0c\u7279\u522b\u662f\u57282011\u5e74\u6536\u8d2dEpicentre Biotechnologies\u540e\u3002\u540c\u65f6\u7531\u4e8e\u4eea\u5668\u548c\u8bd5\u5242\u7684\u914d\u5957\u7684\u5784\u65ad\uff0c\u5728\u8bae\u4ef7\u548c\u552e\u540e\u670d\u52a1\u4e0a\uff0c\u65e9\u671f\u6d77\u5916\u5382\u5546\u4e5f\u5b58\u5728\u4e00\u5b9a\u7684\u5c01\u95ed\u751f\u6001\uff0c\u4fdd\u8bc1\u4e86\u8d22\u62a5\u7684\u6570\u5b57\u540c\u65f6\u4e5f\u53cd\u5411\u6fc0\u53d1\u4e86\u5408\u4f5c\u4f19\u4f34\u6210\u4e3a\u7ade\u4e89\u5bf9\u624b\u3002<\/div>\n
\u00a0<\/div>\n
\u76ee\u524d\u56fd\u5185\u57fa\u56e0\u6355\u83b7\u4ee3\u8868\u4f01\u4e1a\u9010\u6e10\u589e\u591a\uff0c\u4ee3\u8868\u516c\u53f8\u5305\u62ec\u827e\u5409\u6cf0\u5eb7\u3001\u8054\u5ddd\u751f\u7269\u7b49\u3002\u6839\u636e\u5b98\u7f51\uff0c\u827e\u5409\u6cf0\u5eb7\u4e3b\u6253\u4ea7\u54c1\u662f\u6db2\u76f8\u82af\u7247\u6355\u83b7\u548c\u591a\u91cdPCR\u6355\u83b7\uff0c\u9002\u7528\u4e8eMGI\u548cIllumina\u7b49\u5e73\u53f0\u3002\u4f46\u57282019\u5e74\u9010\u6e10\u4ece\u4ea7\u54c1\u8f6c\u5411\u670d\u52a1\uff0c\u5305\u62ec\u6d4b\u5e8f+\u6355\u83b7\u7684\u79d1\u6280\u670d\u52a1\u65b9\u6848\u4ee5\u53ca\u4ee3\u7406twist\u4ea7\u54c1\uff0c\u5176\u5c55\u793a\u7684\u57fa\u56e0\u5408\u6210\u5e73\u53f0\u4ecd\u503c\u5f97\u671f\u5f85\u3002\u8054\u5ddd\u751f\u7269\u65e9\u671f\u96b6\u5c5e\u4e8e\u7f8e\u56fd\u516c\u53f8LC Sciences\uff0c2018\u5e74\u53cd\u5411\u63a7\u80a1\u4e86LC Sciences\u3002\u5176\u81ea\u4e3b\u7814\u53d1\u7684\u4e00\u6b65\u5f0f\u9776\u5411\u57fa\u56e0\u6355\u83b7\u6280\u672f\uff08VariantProTM\uff09\u62e5\u6709\u56fd\u9645PCT\u4e13\u5229\u3002\u540c\u65f6\u5176\u5b9a\u5236\u5316Panel\u63a8\u5411\u5e02\u573a\u4e4b\u8def\u8270\u96be\uff0c\u4ece\u5b98\u7f51\u4e0a\u770b\u9010\u6e10\u8f6c\u5411\u80bf\u7624\u57fa\u56e0\u68c0\u6d4b\/\u7b5b\u67e5\u8bd5\u5242\u76d2\u548c\u5e38\u89c4\u79d1\u6280\u670d\u52a1\u3002<\/div>\n
\u00a0<\/div>\n
4. \u65e0\u521bDNA\u4ea7\u524d\u68c0\u6d4b\uff08NIPT\uff09\u8bd5\u5242\u76d2<\/div>\n
NIPT\u4f5c\u4e3a\u7b2c\u4e00\u4e2a\u6807\u51c6\u5316\u4e14\u5e7f\u6cdb\u5e94\u7528\u4e8e\u4e34\u5e8a\u7684\u57fa\u56e0\u4ea7\u54c1\uff0c\u4e00\u65b9\u9762\u6765\u81ea\u4e34\u5e8a\u5e38\u89c4\u68c0\u6d4b\u7684\u9700\u6c42\uff08\u8840\u6e05\u7b5b\u67e5\u68c0\u51fa\u7387\u7ea665%\uff0c\u5047\u9633\u6027\u73875%\uff0c1%\u7f8a\u6c34\u9633\u6027\u7387\u7b49\uff09\uff0c\u9700\u8981\u63d0\u9ad8\u68c0\u51fa\u7387\u540c\u65f6\u964d\u4f4e\u7f8a\u6c34\u7a7f\u523a\u7684\u65e0\u521b\u68c0\u6d4b\u65b9\u6cd5\uff1b\u53e6\u4e00\u65b9\u9762\u9999\u6e2f\u4e2d\u6587\u5927\u5b66\u5362\u715c\u660e\uff08Dennis Lo\uff09\u6559\u6388\u57281997\u5e74\u53d1\u5e03\u5728\u6bcd\u4eb2\u5916\u5468\u8840\u68c0\u6d4b\u5230\u80ce\u513fDNA\u7684\u79d1\u7814\u6210\u679c\u7684\u8f6c\u5316[3]\u3002<\/div>\n
\u00a0<\/div>\n
\u6240\u4ee52014\u5e74\u5f00\u59cb\uff0c\u56fd\u5bb6\u836f\u660e\u76d1\u7763\u7ba1\u7406\u5c40\u5f00\u59cb\u6279\u51c6NIPT\u76f8\u5173\u8bd5\u5242\u76d2\uff0c\u534e\u5927\u57fa\u56e0\uff08SZ.300676\uff09\u3001\u8fbe\u5b89\u57fa\u56e0\u3001\u535a\u5965\u751f\u7269\u3001\u8d1d\u745e\u57fa\u56e0(SZ.000710)\u5148\u540e\u81ea2014\u5e746\u6708-2015\u5e743\u6708\u4ea7\u54c1\u5316NIPT\u3002\u5df2\u7ecf\u6210\u719f\u5e94\u7528\u5230\u56fd\u5185\u5e02\u573a\uff0c\u5728\u6280\u672f\u6210\u719f\u548c\u6bcd\u5a74\u751f\u7269\u6837\u672c\u9057\u4f20\u8d44\u6e90\u7ba1\u7406\u7684\u653f\u7b56\u654f\u611f\u5ea6\u4e0b\uff0c\u83b7\u5f97\u7a33\u5b9a\u7684\u53d1\u5c55\u73af\u5883\u3002\u76ee\u524d\u68c0\u6d4b\u6837\u672c\u9884\u8ba1\u8d85\u8fc7600\u4e07\u4efd\uff0c\u540c\u65f6\u5728\u4ef7\u683c\u4e0a\uff0c\u7531\u534e\u5927\u57fa\u56e0\u53d1\u8d77\u7684\u533a\u57df\u53d1\u5c55\u653f\u7b56\u5e26\u6765\u7684\u89c4\u6a21\u5316\u4f4e\u4ef7\u91c7\u8d2d\u7b56\u7565\uff0c\u7387\u5148\u5c06\u539f\u6709\u5747\u4ef72000-3000\u964d\u4f4e\u5230\u5343\u5143\u4ee5\u4e0b\uff0c\u8912\u8d2c\u4e0d\u4e00\u3002\u8fd9\u70b9\u4ece\u884c\u4e1a\u79e9\u5e8f\u548c\u751f\u6001\u4e0a\uff0c\u4ecd\u5b58\u5728\u76d1\u7ba1\u548c\u4ef7\u683c\u8fdb\u4e00\u6b65\u89c4\u8303\u7684\u5fc5\u8981\u3002\u5bf9\u6807\u516c\u53f8\u5305\u62ec\u7f8e\u56fd\u7684Sequenom\u3001Natera\u7b49\u3002<\/div>\n
\u00a0<\/div>\n
5. \u80bf\u7624\u4f34\u968f\u8bca\u65ad\u8bd5\u5242\u76d2<\/div>\n
\u80bf\u7624\u4f34\u968f\u8bca\u65ad\u662f\u7ee7NIPT\u540e\u53e6\u4e00\u4e2a\u6210\u719f\u5e94\u7528\u7684\u4e34\u5e8a\u57fa\u56e0\u4ea7\u54c1\u3002\u81ea2016\u5e74FMI\u7684\u5375\u5de2\u764cBRCA\u4f34\u968f\u8bca\u65ad\u8bd5\u5242\u76d2\u4e0a\u5e02\u540e\uff0cThernmo Fisher\u7684\u975e\u5c0f\u7ec6\u80de\u80ba\u764cBRAF\/ROS1\/EGFR\u8bd5\u5242\u76d2\u3001Illumina\u7684\u8f6c\u79fb\u6027\u7ed3\u76f4\u80a0\u764cKRAS\/NRAS\u8bd5\u5242\u76d2\u3001\u5148\u540e\u83b7\u5f97FDA\u6279\u51c6\u4e0a\u5e02\u30022017\u5e7411\u6708\uff0cMSKCC\uff08468\u4e2a\u57fa\u56e0\uff09\u548cFMI\uff08324\u4e2a\u57fa\u56e0\uff09\u7684\u6cdb\u764c\u79cd\u591a\u57fa\u56e0\u68c0\u6d4b\u8bd5\u5242\u76d2\u5148\u540e\u5728\u7f8e\u56fd\u4e0a\u5e02\u3002\u5f97\u76ca\u4e8eNGS\u7684\u6210\u672c\u964d\u4f4e\u548c\u5927\u6837\u672c\u7814\u7a76\u5e26\u6765\u7684\u6709\u6548\u6027\uff0c\u57fa\u56e0\u68c0\u6d4b\u65b9\u5f0f\u9010\u6e10\u4ece\u5355\u57fa\u56e0\u5230\u5927Panel\uff0c\u4ece\u5355\u764c\u79cd\u5230\u6cdb\u764c\u79cd\u3002<\/div>\n
\u00a0<\/div>\n
\u80bf\u7624\u57fa\u56e0\u8bca\u65ad\u4ea7\u54c1\u65e9\u671f\u5728\u4e2d\u56fd\u7684\u843d\u5730\uff0c\u4ee5FMI\u4e3a\u4f8b\uff0c\u88abRoche\u6536\u8d2d\u540e\uff0c2018\u5e744\u6708\u4e0e\u8fea\u5b89\u8bca\u65ad\u72ec\u5bb6\u5408\u4f5c\uff0c\u5728\u4e2d\u56fd\u5927\u9646\u5b9e\u73b0FMI\u65d7\u4e0bFoundationOne\u00ae\u3001FoundationOne\u00aeHeme\u548cFoundationACT\u00ae\u4ea7\u54c1\u7684\u80bf\u7624\u4e34\u5e8a\u5e94\u7528\u3002\u5bf9\u4e8e\u4e73\u817a\u764c\u7684OncoTypeDX\uff0821\u57fa\u56e0\u68c0\u6d4b\uff09\u548cMammaPrint\uff0870\u57fa\u56e0\u68c0\u6d4b\uff09\u5219\u901a\u8fc7\u4ee3\u7406\u65b9\u5f0f\u8fdb\u5165\u4e2d\u56fd\u3002<\/div>\n
\u00a0<\/div>\n
\u76ee\u524d\u56fd\u5185\u7684\u80bf\u7624\u8bca\u65ad\uff0c\u65e9\u671f\u4ee5PCR\u4e3a\u6280\u672f\u5e73\u53f0\u7684\u8bd5\u5242\u76d2\uff0c\u4f9b\u5e94\u5546\u5305\u62ec\u4e3a\u771f\u751f\u7269\u3001\u827e\u5fb7\u751f\u7269\u7b49\u3002\u8fd1\u5e74\u7279\u522b\u662f2018\u5e74\u83b7\u6279\u7684NGS\u80bf\u7624\u8bca\u65ad\u8bd5\u5242\u76d2\u5305\u62ec\u71c3\u77f3\u533b\u5b66\u3001\u8bfa\u79be\u81f4\u6e90\u3001\u4e16\u548c\u57fa\u56e0\u3001\u827e\u5fb7\u751f\u7269\u7b49\u3002\u53e6\u5916\uff0c\u5409\u56e0\u52a0\u3001\u534e\u5927\u57fa\u56e0\u3001\u6c42\u81fb\u533b\u5b66\u7b49\u4e5f\u5728\u7b79\u5907\u76f8\u5173\u80bf\u7624\u8bca\u65ad\u8bd5\u5242\u76d2\u62a5\u8bc1\u3002<\/div>\n
\u00a0<\/div>\n
\u4e09\u8d38\u6613\u6218\u4e0b\u7684\u56fd\u4ea7\u8bca\u65ad\u4ea7\u54c1\u7684\u7978\u798f\u76f8\u4f9d<\/div>\n
\u9664\u4e86\u673a\u6784\u8fd0\u8425\u89d2\u5ea6\uff0c\u4ece\u884c\u4e1a\u751f\u6001\u548c\u957f\u671f\u6218\u7565\u89d2\u5ea6\u770b\uff0c\u66f4\u591a\u95ee\u9898\u9700\u8981\u7406\u6027\u770b\u5f85\u3002<\/div>\n
1\uff09\u5784\u65ad\u548c\u5f00\u653e<\/div>\n
\u4f5c\u4e3a\u4e00\u5ea6\u5784\u65ad\u90e8\u5206\u9886\u57df\u7684\u534e\u5927\u96c6\u56e2\u7684\u5b50\u516c\u53f8\uff0c\u534e\u5927\u667a\u9020\u7ecf\u6d4e\u548c\u8206\u60c5\u7684\u98ce\u53e3\u6d6a\u5c16\u4e0a\u8fd1\u671f\u5b8c\u62102\u4ebf\u7f8e\u5143\u7684\u9996\u8f6e\u52df\u8d44\uff0c\u81ea2015\u5e74\u8d77\u4ee5\u6bcf\u5e74\u4e0d\u4f4e\u4e8e\u4e00\u4e2a\u7684\u65b0\u54c1\u53d1\u5e03\u7684\u901f\u5ea6\uff0c\u8fc5\u901f\u62c9\u4f4e\u56fd\u5185\u6d4b\u5e8f\u6210\u672c\uff0c\u540c\u65f6\u901a\u8fc7\u201c\u4e00\u5e26\u4e00\u8def\u201d\u8fdb\u5165\u6b27\u4e9a\u56fd\u5bb6\u5e02\u573a\u3002<\/div>\n
\u00a0<\/div>\n
\u4ece\u4e2d\u4e0b\u6e38\u5408\u4f5c\u4f19\u4f34\u6765\u770b\uff0c\u5b83\u6253\u7834\u4e86\u65e2\u6709\u7684\u8fdb\u53e3\u5784\u65ad\u540c\u65f6\u662f\u5426\u4f1a\u5f62\u6210\u65b0\u7684\u5784\u65ad\uff0c\u8fd9\u4e5f\u662f\u90e8\u5206\u5730\u65b9\u653f\u5e9c\u5728\u89c2\u671b\u7684\u3002\u4ece\u534e\u5927\u96c6\u56e2\u7684\u6295\u8d44\u6848\u4f8b\u548c\u201c\u5168\u7403\u6d4b\u5e8f\u8005\u8ba1\u5212\u201d\u7684\u6218\u7565\u8282\u594f\uff0c\u53ef\u4ee5\u770b\u5230\u5f00\u653e\u7684\u610f\u8bc6\u3002\u53cd\u89c2\u817e\u8baf\u7684\u201c3Q\u201d\u5927\u6218\u540e\u5bf9\u5c01\u95ed\u751f\u6001\u7684\u53cd\u7701\uff0c\u5728\u201c\u8d4b\u80fd\u201d\u53ca\u201c\u5e73\u53f0\u201d\u5c42\u9762\uff0c\u4ecd\u9700\u8981\u4e0d\u65ad\u53d8\u9769\u3002\u7ecf\u6d4e\u4e0b\u884c\u548c\u4f53\u91cf\u53d1\u5c55\u60c5\u51b5\u4e0b\uff0c\u4e0a\u5e02\u516c\u53f8\u7684\u751f\u5b58\u548c\u6c11\u751f\u4f7f\u547d\u7684\u5e73\u8861\u662f\u6446\u5728\u6218\u7565\u5236\u5b9a\u8005\u7684\u4e00\u5927\u96be\u9898\u3002<\/div>\n
\u00a0<\/div>\n
2\uff09\u77e5\u8bc6\u4ea7\u6743<\/div>\n
\u7c7b\u4f3c\u65e9\u671f\u8d34\u724c\u7684\u56fd\u4ea7\u6d4b\u5e8f\u4eea\u5728\u5e02\u573a\u7ade\u4e89\u4e2d\u672a\u83b7\u5f97\u76f8\u5bf9\u4f18\u52bf\uff0c\u800c\u6536\u8d2dComplate Genomics\u540e\u83b7\u5f97\u77e5\u8bc6\u4ea7\u6743\u7684\u751f\u4ea7\u8bbe\u5907\u3001\u8bd5\u5242\u8017\u6750\u548c\u79d1\u7814\u4eba\u5458\uff0c\u5e26\u6765\u771f\u6b63\u7684\u4ef7\u683c\u666e\u60e0\u3002\u5728\u80bf\u7624\u8bca\u65ad\u8bd5\u5242\u76d2\u7b49\u9886\u57df\uff0c\u4ee3\u7406\u57fa\u4e8e\u6e20\u9053\u4f18\u52bf\uff0c\u5c06\u6210\u672c\u8f6c\u79fb\u5230\u75c5\u4eba\u8eab\u4e0a\uff0c\u4ece\u957f\u671f\u770b\u5546\u4e1a\u6a21\u5f0f\u548c\u81ea\u4e3b\u6027\u4ecd\u4e0d\u591f\u7a33\u5b9a\u3002<\/div>\n
\u672a\u6765\u5373\u5c06\u5728\u4e2d\u56fd\u8bde\u751f\u7684\u77e5\u8bc6\u4ea7\u6743\u4ea4\u6613\u5e02\u573a\uff0c\u751f\u7269\u6280\u672f\u662f\u5176\u4e2d\u6838\u5fc3\u4ea7\u4e1a\u4e4b\u4e00\u3002\u8fd9\u65b9\u9762\u7684\u610f\u8bc6\u548c\u4eba\u624d\u5747\u9700\u53d1\u5c55\u3002<\/div>\n
\u00a0<\/div>\n
3\uff09\u56fd\u9645\u6280\u672f\u4ea4\u6d41\u548c\u6570\u636e\u5e73\u53f0<\/div>\n
1998\u5e74\uff0c\u56fd\u52a1\u9662\u529e\u516c\u5385\u8f6c\u53d1\u4e86\u79d1\u6280\u90e8\u3001\u536b\u751f\u90e8\u5236\u5b9a\u7684\u300a\u4eba\u7c7b\u9057\u4f20\u8d44\u6e90\u7ba1\u7406\u6682\u884c\u529e\u6cd5\u300b\uff0c\u4e3b\u8981\u662f\u5bf9DNA\u7b49\u751f\u7269\u6837\u672c\u548c\u6570\u636e\u7684\u51fa\u5165\u5883\u7684\u7ba1\u7406\u3002\u800c\u540c\u65f6\u6211\u4eec\u770b\u5230\uff0c1999\u5e74\uff0c\u6211\u56fd\u53c2\u4e0e\u4eba\u7c7b\u57fa\u56e0\u7ec4\u8ba1\u5212\uff08HGP\uff09\uff0c\u901a\u8fc7\u6b64\u8ba1\u5212\u8bde\u751f\u7684\u534e\u5927\u57fa\u56e0\uff08\u73b0\u4e3a\u201d\u534e\u5927\u96c6\u56e2\u201c\uff09\u4ee5\u53ca\u56fd\u5185\u57fa\u56e0\u6280\u672f\u4ea7\u4e1a\u5316\u53d1\u5c55\uff0c\u8fd9\u65e0\u4e00\u79bb\u4e0d\u5f00\u56fd\u9645\u6280\u672f\u4ea4\u6d41\u3002\u57fa\u4e8eHGP\u3001HapMap\uff08\u4eba\u7c7b\u5355\u4f53\u578b\u8ba1\u5212\uff09\u30011000 Genome Project\uff08\u5343\u4eba\u57fa\u56e0\u7ec4\u8ba1\u5212\uff09\u3001\u6b27\u76dfMetaHIT\u8ba1\u5212\uff08\u4eba\u4f53\u80a0\u9053\u5b8f\u57fa\u56e0\u7ec4\u8ba1\u5212\uff09\u7b49\u56fd\u9645\u5408\u4f5c\u8ba1\u5212\u8bde\u751f\u7684\u6807\u51c6\u548c\u6570\u636e\u5e73\u53f0\uff0c\u5230\u76ee\u524d\u4f9d\u7136\u6ecb\u517b\u7740\u56fd\u5185\u5916\u79d1\u7814\u673a\u6784\u3001\u4f01\u4e1a\u548c\u4e34\u5e8a\u5355\u4f4d\u3002<\/div>\n
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\u00a0<\/div>\n
5\uff09\u6c11\u65cf\u4e3b\u4e49\u548c\u5168\u7403\u884c\u4e1a\u751f\u6001\u683c\u5c40<\/div>\n
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\u6ce8\uff1a\u4ee5\u4e0a\u4fe1\u606f\u6765\u81ea\u7279\u7ea6\u4f5c\u8005\uff0c\u4e0d\u4ee3\u8868\u672c\u5e73\u53f0\u89c2\u70b9\uff0c\u6b22\u8fce\u4e2a\u4eba\u8f6c\u53d1\uff0c\u673a\u6784\u8f6c\u53d1\u8bf7\u5728\u7b2c\u4e00\u884c\u6ce8\u660e\u6765\u81ea\u57fa\u56e0\u6167\u3002<\/div>\n
\u00a0<\/div>\n
\u53c2\u8003\u8d44\u6599\uff1a<\/div>\n
1. http:\/\/www.gov.cn\/xinwen\/2019-05\/13\/content_5391208.htm<\/div>\n
2.\u00a0https:\/\/www.fdanews.com\/articles\/95014-roche-acquires-nimblegen-for-diagnostics-division?v=preview<\/div>\n
3.\u00a0Lo YM et al. Presence of fetal DNA in maternal plasma and serum.Lancet. 1997 Aug 16;350(9076):485-7.<\/div>\n\n
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\u3010\u52a0\u5165\u57fa\u56e0\u6167\u3011info@genonet.cn<\/div>\n
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