{"id":11618,"date":"2017-03-28T08:11:02","date_gmt":"2017-03-28T00:11:02","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzIzMzE4MzU3NA==&mid=504149377&idx=1&sn=706c7b9cbaeec965bdaf260a1c8856f7&chksm=737195b844061cae397d63077e2670bcd81f8470e7fccfd55d87d7d80aa11eafa493e143fe31#rd"},"modified":"2026-04-09T10:47:14","modified_gmt":"2026-04-09T02:47:14","slug":"48100102","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2017\/03\/28\/48100102\/","title":{"rendered":"\u54c8\u4f5b\u533b\u5b66\u9662\u6c88\u4ea6\u5e73\uff1a\u7cbe\u51c6\u533b\u5b66\u57fa\u672c\u529f\u662f\u5927\u6570\u636e\u5171\u4eab | \u300a\u5927\u5496\u8bba\u5065\u300b\u7b2c\u4e8c\u5b6310\u671f"},"content":{"rendered":"

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\u4f5c\u8005\uff1a\u6c88\u4ea6\u5e73 \u6559\u6388<\/div>\n
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\"eicZhoGYCfyb6yD7odFEJRk7RQcTbM84STsxtKVbze42PIPTx8w906HicbhxOvlGvSL9OfyBgcBkeTFCC6XcJiahA\"\/<\/figure><\/div>\n\n<\/div>\n
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\u4e00\u3001\u5341\u4f59\u5e74\u89c1\u8bc1\u548c\u7ecf\u5386\u533b\u5b66\u9057\u4f20\u5b66\u7684\u53d1\u5c55<\/div>\n
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\"eicZhoGYCfyb6yD7odFEJRk7RQcTbM84SyCiccRqkqHslW5QjEgxDyqrpNBFHP5NPImb0VNxiadXMhtaGDr2bScDQ\"\/<\/figure><\/div>\n\n
\u56fe1\uff1aACMG \u6765\u81eaACMG\u5b98\u7f51\u3002\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u4e0e\u57fa\u56e0\u7ec4\u5b66\u9662\uff08ACMG\uff09\u662f\u7531\u81f4\u529b\u4e8e\u533b\u5b66\u9057\u4f20\u5b66\u5b9e\u8df5\u7684\u4e13\u4e1a\u4eba\u5458\u7ec4\u6210\u7684\u7ec4\u7ec7\uff0c\u6210\u7acb\u4e8e1991\u5e74\uff0c\u65e8\u5728\u5236\u5b9a\u4e34\u5e8a\u5b9e\u8df5\u6307\u5357\u3001\u5b9e\u9a8c\u5ba4\u670d\u52a1\u76ee\u5f55\u3001\u6570\u636e\u5e93\u3001\u7b5b\u67e5\u6307\u5357\u3001\u5e76\u5efa\u7acb\u7edf\u4e00\u7684\u5b9e\u9a8c\u5ba4\u6807\u51c6\u3001\u8d28\u91cf\u4fdd\u8bc1\u548c\u80fd\u529b\u6d4b\u8bd5\uff0c2011\u5e74\u66f4\u540d\u4e3aACMGG[1]<\/div>\n
\u533b\u5b66\u9057\u4f20\u4e13\u79d1\u662f\u7f8e\u56fd\u4e8c\u5341\u56db\u4e2a\u4e13\u79d1\u5f53\u4e2d\u6700\u5e74\u8f7b\u7684\u4e00\u95e8\u533b\u5b66\u4e13\u79d1\u3002\u4f5c\u4e3a\u4e00\u95e8\u72ec\u7acb\u7684\u5b66\u79d1\uff0c\u8fd8\u53ea\u662f\u4e8c\u5341\u591a\u5e74\u7684\u65f6\u95f4\uff0c\u8fd9\u4e00\u4e13\u79d1\u5f88\u6709\u8fdc\u89c1\u5730\u4ece\u4e00\u5f00\u59cb\u5c31\u5438\u7eb3PhD\uff08\u535a\u58eb\uff09\u4f5c\u4e3a\u59d4\u5458\u4f1a\u59d4\u5458\u3002\u8fd9\u662f\u552f\u4e00\u7684\u4e00\u4e2a\u6709PhD\u53c2\u4e0e\u7684\u533b\u5b66\u4e13\u79d1\u5206\u652f\uff0c\u4ece\u73b0\u5728\u7684\u89d2\u5ea6\u770b\u6765\uff0c\u8fd9\u4e2a\u51b3\u5b9a\u662f\u975e\u5e38\u975e\u5e38\u5730\u6b63\u786e\u3001\u660e\u667a\u548c\u91cd\u8981\u3002\u5341\u591a\u5e74\u524d\u8fd9\u4e00\u4e13\u79d1\u8fd8\u6ca1\u6709\u5f97\u5230\u5e7f\u6cdb\u7684\u91cd\u89c6\uff0c\u6211\u975e\u5e38\u5e78\u8fd0\u7684\u5728\u7533\u8bf7\u540e\u5c31\u52a0\u5165\u54c8\u4f5b\u533b\u5b66\u9662\u7684\u57f9\u8bad\u73ed\uff0c\u4e24\u5e74\u540e\u987a\u5229\u8003\u8fc7Board\u7684\u8d44\u683c\u8003\u8bd5\uff0c\u6210\u4e3a\u4e86\u4e00\u540d\u5206\u5b50\u9057\u4f20\u5b66\u7684\u4e13\u79d1\u533b\u751f\u3002<\/div>\n\n
\n
\"eicZhoGYCfyb6yD7odFEJRk7RQcTbM84SKSF52YEb45zge0j62gud5l2cibj3nCMK1jic5fx6Bne6ukdsG2wuptdQ\"\/<\/figure><\/div>\n\n
\u56fe2\uff1a\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u4e13\u79d1\u4e13\u804c\u4f53\u7cfb\u7684\u8d44\u8d28\u7ec4\u6210\u548c\u4eba\u624d\u6570\u91cf\uff0c\u6765\u81ea\uff1a\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7, 2016,36(03): 396-401[2]<\/div>\n
\u5341\u591a\u5e74\u6765\u6211\u4e00\u76f4\u5728\u4ee5\u5206\u5b50\u8bca\u65ad\u4e3a\u4e2d\u5fc3\u7684\u7b2c\u4e00\u7ebf\u4ece\u4e8b\u533b\u5b66\u9057\u4f20\u7684\u5de5\u4f5c\uff0c\u540c\u65f6\u53c8\u7279\u522b\u91cd\u89c6\u8ddf\u4e34\u5e8a\u533b\u751f\u548c\u9057\u4f20\u54a8\u8be2\u5e08\u7684\u5bc6\u5207\u4ea4\u5f80\u548c\u95e8\u8bca\u75c5\u4eba\u7684\u63a5\u89e6\uff0c\u6240\u4ee5\u5728\u8fd9\u4e00\u9886\u57df\u5341\u591a\u5e74\u5f53\u4e2d\uff0c\u4eb2\u8eab\u7ecf\u5386\u4e86\u5b83\u4ece\u8fb9\u7f18\u5b66\u79d1\u5230\u4e2d\u5fc3\u5b66\u79d1\u7684\u8fd9\u6837\u4e00\u4e2a\u4e0d\u53ef\u601d\u8bae\u7684\u8f6c\u53d8\u3002\u6211\u4eec\u77e5\u9053\u4eba\u7c7b\u57fa\u56e0\u7ec4\u8ba1\u5212\u7684\u5b8c\u6210\uff0c\u57fa\u56e0\u6d4b\u5e8f\u6280\u672f\u7684\u53d1\u5c55\uff0c\u6570\u636e\u5e93\u548c\u77e5\u8bc6\u5e93\u7684\u5171\u4eab\u4ee5\u53ca\u57fa\u7840\u533b\u5b66\u4e2a\u4f53\u5316\u533b\u7597\u548c\u7cbe\u51c6\u533b\u5b66\u6982\u5ff5\u7684\u5e7f\u6cdb\u5174\u8d77\uff0c\u4f7f\u5f97\u533b\u5b66\u9057\u4f20\u5b66\u6210\u4e3a\u4e00\u4e2a\u4e0d\u53ef\u7f3a\u5c11\u7684\u3001\u5404\u4e2a\u4e13\u79d1\u90fd\u9700\u8981\u7684\u4e00\u4e2a\u4e2d\u5fc3\u5b66\u79d1\u3002<\/div>\n\n
\n
\"eicZhoGYCfyb6yD7odFEJRk7RQcTbM84Scubk5nB3SjyLT2W308T0ctdQBibL0dV4nYo8MDOp5y4BGlW1iaIqHo8A\"\/<\/figure><\/div>\n\n
\u56fe3, \u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u4e13\u79d1\u4f53\u7cfb\uff0c\u6765\u81ea\uff1a\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7, 2016,36(03): 396-401[2]<\/div>\n
\u4e8c\u3001\u56fd\u5185\u533b\u5b66\u9057\u4f20\u5b66\u7684\u53d1\u5c55<\/div>\n
\u6240\u4ee5\u4ece\u5386\u53f2\u65f6\u95f4\u7684\u89d2\u5ea6\u6765\u770b\uff0c\u6211\u4e5f\u89c9\u5f97\u975e\u5e38\u7684\u5e78\u8fd0\u3002\u4ece\u533b\u5b66\u9057\u4f20\u5b66\u4e0d\u662f\u5f88\u70ed\u95e8\u5230\u975e\u5e38\u70ed\u95e8\u7684\u5b66\u79d1\u6210\u957f\u8fc7\u7a0b\u4e2d\uff0c\u6211\u90fd\u7ecf\u5386\u5e76\u79ef\u6781\u5730\u53c2\u4e0e\u4e86\u3002\u6211\u5f88\u6e05\u9192\u5730\u8ba4\u8bc6\u5230\u4e86\u81ea\u5df1\u7684\u4f7f\u547d\u548c\u8d23\u4efb\uff0c\u7279\u522b\u662f\u56fd\u5185\u8fd9\u4e00\u9886\u57df\u76f8\u5bf9\u7f8e\u56fd\u53d1\u5c55\u843d\u540e\u51e0\u5341\u5e74\uff0c\u867d\u7136\u6211\u4eec\u73b0\u5728\u79bb\u4e00\u4e2a\u5b8c\u6574\u7684\u4f53\u7cfb\u8fd8\u6709\u4e0d\u5c11\u7684\u8ddd\u79bb\uff0c\u4f46\u8fd9\u51e0\u5e74\u5728\u8bb8\u591a\u524d\u8f88\u548c\u540c\u884c\u7684\u52aa\u529b\u4e0b\uff0c\u4fc3\u6210\u4e86\u8fd9\u4e00\u4f53\u7cfb\u7684\u5efa\u8bbe\uff0c\u53d6\u5f97\u4e86\u5f88\u5927\u7684\u8fdb\u5c55\u3002\u6bd4\u5982\uff0c\u533b\u5b66\u9057\u4f20\u5b66\u73b0\u5728\u662f\u4e8c\u7ea7\u5b66\u79d1\u4e86\uff0c\u6211\u4eec\u4e5f\u5f00\u59cb\u4e86\u4e34\u5e8a\u533b\u5b66\u4e13\u79d1\u533b\u5e08\u7684\u89c4\u8303\u5316\u57f9\u517b\u548c\u9057\u4f20\u54a8\u8be2\u5e08\u7684\u57f9\u8bad\uff0c\u8fd9\u65b9\u9762\u7684\u8fdb\u5c55\u975e\u5e38\u4ee4\u4eba\u6b23\u6170\uff0c\u8fd9\u4e9b\u90fd\u662f\u6709\u6211\u4eec\u7684\u5f88\u591a\u5fd7\u540c\u9053\u5408\u7684\u540c\u884c\u7684\u52aa\u529b\uff0c\u8fd9\u4e5f\u662f\u6211\u611f\u5230\u975e\u5e38\u5e78\u8fd0\u7684\u65b9\u9762\u3002<\/div>\n\n
\n
\"eicZhoGYCfyb6yD7odFEJRk7RQcTbM84SDZkUkmDPyAz319F6otDJSd2xyaHc2PNncHJI0UZ9fI75tecNDTdCZw\"\/<\/figure><\/div>\n\n
\u56fe4\uff1a\u5317\u7f8e\u3001\u6b27\u6d32\u56fd\u5bb6\u548c\u4e2d\u56fd\u533b\u5b66\u9057\u4f20\u4e13\u79d1\u548c\u9057\u4f20\u54a8\u8be2\u5e08\u7684\u57f9\u8bad\u4f53\u7cfb\uff0c\u6765\u81ea\uff1a\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7, 2016,36(03): 396-401[2]<\/div>\n
\u4e09\u3001\u5f15\u9886\u67d3\u8272\u4f53\u82af\u7247\u5e94\u7528\u4e8e\u5e38\u89c4\u4e34\u5e8a\u8bca\u65ad<\/div>\n
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\u00a0<\/div>\n
\u56db\u3001\u53c2\u4e0e\u56fd\u5185\u7684\u4e13\u4e1a\u4eba\u624d\u7684\u57f9\u517b<\/div>\n
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\u00a0<\/div>\n
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\u00a0<\/div>\n
\u516d\u3001\u5927\u6570\u636e\u5171\u4eab\u3001\u6574\u5408\u624d\u80fd\u53d1\u6325\u4f5c\u7528<\/div>\n
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\u00a0<\/div>\n
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\u00a0<\/div>\n
\u6bcf\u65e5\u56fd\u5185\u5916\u7cbe\u51c6\u533b\u7597\u8d44\u8baf\uff1a\u300aGeneMail\u300b<\/div>\n
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\u6bcf\u5b63\u5ea6\u51fa\u884c\u4e1a\u62a5\u544a\uff1a\u300a\u6167\u773c\u7814\u7a76\u300b<\/div>\n\n
\n
\"eicZhoGYCfyaVpiatR0xZeJdswnqCLAYcsOE9rZpe7konhTSIHJeGefsPDzFqiaCnj6teKeBbpGzSbDc42lSCnia5Q\"\/<\/figure><\/div>\n\n<\/div>\n
<\/div>\n
<\/div>\n
\u53c2\u8003\u8d44\u6599\uff1a<\/div>\n
1.https:\/\/www.acmg.net\/<\/div>\n
2.\u8212\u4f1f, \u5468\u5e86\u534e, \u5f20\u6167, \u7b49. \u7f8e\u6b27\u533b\u5b66\u9057\u4f20\u5b66\u4e13\u79d1\u548c\u76f8\u5173\u4e13\u804c\u4f53\u7cfb\u7684\u53d1\u5c55\u53ca\u5176\u5bf9\u533b\u7597\u4fdd\u5065\u7684\u5f71\u54cd [J]. \u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7,2016,36( 3 ): 396-401. DOI: 10.3760\/cma.j.issn.1003-9406.2016.03.027<\/div>\n
3.https:\/\/hms.harvard.edu\/<\/div>\n
4.http:\/\/www.childrenshospital.org\/<\/div>\n
<\/div>\n
<\/div>\n
<\/div>\n
\u58f0\u660e<\/div>\n
1. \u4ee5\u4e0a\u5185\u5bb9\u662f\u57fa\u56e0\u6167\u72ec\u7acb\u7b56\u5212\u3001\u7f16\u8f91\u6210\u6587\u3002\u7248\u6743\u5c5e\u4e8e\u57fa\u56e0\u6167\uff0c\u5728\u5c0a\u91cd\u7248\u6743\u60c5\u51b5\u4e0b\uff0c\u6b22\u8fce\u8f6c\u53d1\u3002\u8f6c\u8f7d\u8bf7\u6ce8\u660e\uff1a\u6765\u6e90\u4e8e\u57fa\u56e0\u6167\u3002<\/div>\n
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2.\u57fa\u56e0\u6167\u662f\u4e00\u5bb6\u7b2c\u4e09\u65b9\u72ec\u7acb\u7684\u884c\u4e1a\u4fe1\u606f\u670d\u52a1\u548c\u77e5\u8bc6\u670d\u52a1\u516c\u53f8\uff0c\u6211\u4eec\u79c9\u6301\u5ba2\u89c2\u3001\u4e25\u8c28\u3001\u4e2d\u7acb\u7684\u6001\u5ea6\uff0c\u4ece\u591a\u65b9\u6e20\u9053\u6536\u96c6\u5e76\u53d1\u5e03\u4fe1\u606f\uff0c\u4f9b\u884c\u4e1a\u53c2\u8003\u3002\u4f46\u53d7\u6536\u96c6\u5f53\u65f6\u4fe1\u606f\u516c\u5f00\u7684\u65f6\u6548\u6027\uff0c\u4e0d\u540c\u6e20\u9053\u5b58\u5728\u4e0d\u540c\u89c1\u89e3\uff0c\u4e0d\u80fd\u5b8c\u5168\u4fdd\u8bc1\u4fe1\u606f\u7684\u5b8c\u6574\u6027\u548c\u51c6\u786e\u6027\uff0c\u5982\u6709\u9519\u6f0f\u4e4b\u5904\uff0c\u6b22\u8fce\u6307\u6b63\u3002<\/div>\n
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