{"id":10979,"date":"2017-05-05T15:27:02","date_gmt":"2017-05-05T07:27:02","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&mid=100000650&idx=1&sn=767fdb2634857c5aeb0d8e6082cabffc&chksm=6b72b13d5c05382b95239c8ae762918cecbb62564fbea75f686676cf67c6a96e8d9388bdfaac#rd"},"modified":"2026-04-09T09:54:40","modified_gmt":"2026-04-09T01:54:40","slug":"5557102","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2017\/05\/05\/5557102\/","title":{"rendered":"\u4ece50\u4e07\u4efd\u57fa\u56e0\u7ec4\u6570\u636e\u4e2d\u7b5b\u9009\u51fa\u5bf9\u91cd\u75c7\u65e9\u53d1\u578b\u5355\u75c5\u514d\u75ab\u7684\u4e2a\u4f53"},"content":{"rendered":"

<\/p>\n

\u57fa\u56e0\u6167<\/div>\n
\u57fa\u56e0\u5065\u5eb7\u884c\u4e1a\u77e5\u8bc6\u5e93<\/div>\n
http:\/\/www.geneclub.net.cn<\/a><\/div>\n
\u5173\u952e\u8bcd\uff1a\u5b5f\u5fb7\u5c14\u9057\u4f20\u75c5 \u5916\u663e\u7387 \u00a0\u8868\u73b0\u5ea6<\/div>\n
\u4eba\u7c7b\u57fa\u56e0\u53d8\u5f02\u6570\u636e\u5e93 \u00a0\u6570\u636e\u9762\u677f<\/div>\n
\u6570\u636e\u6536\u96c6\u548c\u7b5b\u9009<\/div>\n
\u9605\u8bfb\u65f6\u95f4\uff1a5min<\/div>\n\n
\n
\"RmFicvQBAkgDtRECtvBP5ibLqnREzJXDrhbKtiaicBKre9aX9n7lmlkmehrPeZeu37OLqs8d2zibhNGx53psC0ofRDw\"\/<\/figure><\/div>\n\n
1\u3001\u4e0d\u89c4\u5219\u5b5f\u5fb7\u5c14\u9057\u4f20\u5b9a\u5f8b\u7814\u7a76\u80cc\u666f<\/div>\n
\u4eba\u7c7b\u7684\u5b5f\u5fb7\u5c14\u9057\u4f20\u75be\u75c5\u6307\u7b26\u5408\u5b5f\u5fb7\u5c14\u9057\u4f20\u5b9a\u5f8b\u7684\u4eba\u7c7b\u5355\u57fa\u56e0\u9057\u4f20\u75be\u75c5\uff0c\u8fd9\u4e00\u7c7b\u75be\u75c5\u7684\u53d1\u75c5\u5f80\u5f80\u7531\u5355\u4e2a\u57fa\u56e0\u7684\u7a81\u53d8\u5bfc\u81f4\uff0c\u4f46\u5728\u4eba\u7c7b\u7684\u5355\u57fa\u56e0\u9057\u4f20\u75c5\u4e2d\uff0c\u8fd8\u6709\u4e00\u7c7b\u590d\u6742\u7684\u73b0\u8c61\uff0c\u5373\u67d0\u4e2a\u4e2a\u4f53\u643a\u5e26\u81f4\u75c5\u57fa\u56e0\uff0c\u4f46\u5374\u5177\u6709\u6b63\u5e38\u4eba\u7684\u8868\u578b\u800c\u6ca1\u6709\u53d1\u75c5\uff0c\u6216\u8005\u53d1\u75c5\u7684\u4e25\u91cd\u7a0b\u5ea6\u5728\u4e2a\u4f53\u95f4\u5177\u6709\u8f83\u5927\u5dee\u5f02\uff0c\u524d\u8005\u6784\u6210\u4e86\u5b5f\u5fb7\u5c14\u9057\u4f20\u75be\u75c5\u7684\u5916\u663e\u7387\uff08penetrance\uff09\u7684\u5dee\u5f02\uff0c\u800c\u540e\u8005\u5bf9\u5e94\u67d0\u79cd\u75be\u75c5\u8868\u73b0\u5ea6\uff08expressivity\uff09\u7684\u5dee\u5f02\u3002\u9020\u6210\u8fd9\u4e9b\u5dee\u5f02\u7684\u56e0\u7d20\u5f80\u5f80\u4e0e\u57fa\u56e0\u95f4\u7684\u76f8\u4e92\u4f5c\u7528\u6709\u5173\uff0c\u5373\u67d0\u4e9b\u57fa\u56e0\u7684\u4e0a\u4f4d\u6548\u5e94\u5bfc\u81f4\u7684\u5728\u67d0\u4e9b\u4e2a\u4f53\u4e2d\u81f4\u75c5\u57fa\u56e0\u7684\u4e0d\u5916\u663e\u6216\u8005\u8868\u73b0\u5ea6\u8f83\u4f4e\uff0c\u56e0\u6b64\u8fd9\u4e9b\u57fa\u56e0\u5bf9\u4e8e\u5b5f\u5fb7\u5c14\u9057\u4f20\u75be\u75c5\u7684\u53d1\u75c5\u5177\u6709\u4e00\u5b9a\u7684\u4fdd\u62a4\u4f5c\u7528\u3002<\/div>\n
\u00a0<\/div>\n
2\u3001\u81f4\u75c5\u57fa\u56e0\u4e0d\u5916\u663e\u7814\u7a76\u7b56\u7565<\/div>\n
\u7814\u7a76\u81f4\u75c5\u57fa\u56e0\u4e0d\u5916\u663e\u7684\u79d1\u5b66\u95ee\u9898\uff0c\u9996\u5148\u9700\u8981\u5728\u4eba\u7fa4\u4e2d\u627e\u5230\u7b26\u5408\u8fd9\u6837\u7684\u8981\u6c42\u7684\u4e2a\u4f53\uff0c\u8fd9\u5728\u4f20\u7edf\u9057\u4f20\u5b66\u7814\u7a76\u4e2d\u662f\u975e\u5e38\u56f0\u96be\u7684\u4e8b\u60c5\uff0c\u800c\u8fd1\u5e74\u6765\u968f\u7740\u8d8a\u6765\u8d8a\u591a\u7684\u4e2a\u4eba\u57fa\u56e0\u7ec4\u91cd\u6d4b\u5e8f\u6570\u636e\u7684\u79ef\u7d2f\uff0c\u4e3a\u8fd9\u4e00\u7814\u7a76\u63d0\u4f9b\u4e86\u673a\u9047\u3002\u5728\u53d1\u8868\u4e8e\u201cNature Biotechnology\u201d\u7684\u4e00\u7bc7\u9898\u4e3a\u201cAnalysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases\u201d\u7684\u6587\u7ae0\u4e2d\uff0c\u4f5c\u8005\u5c31\u5229\u7528\u73b0\u6709\u6570\u636e\u8d44\u6e90\uff0c\u5bf9\u8fd9\u4e00\u95ee\u9898\u8fdb\u884c\u7684\u63a2\u8ba8\u3002<\/div>\n
\u00a0<\/div>\n
\u6c47\u603b\u6ce8\u91ca\u4fe1\u606f<\/div>\n
\u9996\u5148\uff0c\u4f5c\u8005\u6c47\u603b\u4e86\u73b0\u6709\u4eba\u7c7b\u57fa\u56e0\u53d8\u5f02\u6570\u636e\u5e93\u4e2d\u7684\u6ce8\u91ca\u4fe1\u606f\uff0c\u8bbe\u8ba1\u51fa\u7528\u4e8e\u7b5b\u9009\u81f4\u75c5\u57fa\u56e0\u514d\u75ab\u4e2a\u4f53\u7684\u6570\u636e\u9762\u677f\uff0c\u5176\u6570\u636e\u6765\u6e90\u5305\u542b8\u4e2a\u6570\u636e\u5e93\uff0c\u5206\u522b\u662f\uff1a<\/div>\n
(i) the Online Mendelian Inheritance in Man (OMIM) database (http:\/\/www.omim.org\/)<\/a>\uff1b<\/div>\n
(ii) the Human Gene Mutation Database (HGMD; http:\/\/www.hgmd.cf.ac.uk)<\/a>\uff1b<\/div>\n
(iii) GeneReviews (http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1116\/)<\/a>\uff1b<\/div>\n
(iv) Genetics Home Reference (GHR; http:\/\/ghr.nlm.nih.gov\/)<\/a>\uff1b<\/div>\n
(v) ClinVar (http:\/\/www.clinvar.com\/)<\/a>\uff1b<\/div>\n
(vi) Orphanet (http:\/\/www.orpha.net)<\/a>\uff1b<\/div>\n
(vii) the Leiden Open Variation Database (LOVD; http:\/\/www.lovd.nl\/3.0\/home)<\/a><\/div>\n
(viii) Reference Variant Store (RVS)\u3002<\/div>\n
\u00a0<\/div>\n
\u5efa\u7acb\u68c0\u6d4b\u65b9\u6848<\/div>\n
\u5728\u6b64\u57fa\u7840\u4e0a\uff0c\u4f5c\u8005\u5c31\u5176\u4e2d\u7684\u75be\u75c5\u6ce8\u91ca\u4fe1\u606f\u5bf9\u51c6\u5165\u6807\u51c6\u8fdb\u884c\u4e86\u8bbe\u5b9a\uff0c\u5305\u62ec\uff1a\u53ea\u5305\u542b\u5e38\u67d3\u8272\u4f53\u663e\u6027\u3001\u9690\u6027\u548c\u4f34X\u67d3\u8272\u4f53\u9057\u4f20\u75be\u75c5\uff0c\u5177\u6709\u4e25\u91cd\u7684\u75be\u75c5\u8868\u73b0\uff0c\u65e9\u53d1\uff08\u53d1\u75c5\u5e74\u9f84<18\u5c81\uff09\uff0c\u5177\u6709\uff08\u51e0\u4e4e\uff09\u5b8c\u5168\u7684\u5916\u663e\u7387\u3002<\/div>\n
\u6839\u636e\u8fd9\u4e9b\u6807\u51c6\uff0c\u4f5c\u8005\u5efa\u7acb\u4e86\u4e24\u4e2a\u68c0\u6d4b\u65b9\u6848\uff1a<\/div>\n
\u6838\u5fc3\u68c0\u6d4b\u9762\u677f\uff08core allele panel\uff0cCAP\uff09\uff0c\u5305\u542b\u8986\u76d6125\u79cd\u75be\u75c5\u7684162\u4e2a\u53d8\u5f02\u57fa\u56e0\uff0c\u5171674\u79cd\u7a81\u53d8\u6a21\u5f0f\uff1b<\/div>\n
\u6269\u5c55\u68c0\u6d4b\u9762\u677f\uff08expanding allele panel\uff0cEAP\uff09\uff0c\u5728CAP\u7684\u57fa\u7840\u4e0a\u653e\u5bbd\u51c6\u5165\u6761\u4ef6\uff0c\u5305\u62ec\u6536\u5165\u5728HGND\u6570\u636e\u5e93\u4e2d\u6807\u6ce8\u4e3a\u201c\u81f4\u75c5\u7a81\u53d8\u201d\uff0c\u540c\u65f6\u57281000\u4eba\u57fa\u56e0\u7ec4\u8ba1\u5212\u548cNHLBI GO\u6570\u636e\u5e93\u4e2d\u663e\u793a\u7b49\u4f4d\u57fa\u56e0\u9891\u7387<0.5%\u7684\u53d8\u5f02\u4f4d\u70b9\uff0c\u5171\u5305\u542b24,186\u79cd\u53d8\u5f02\u6a21\u5f0f\uff08\u88681\uff09\u3002<\/div>\n\n
\n
\"RmFicvQBAkgDtRECtvBP5ibLqnREzJXDrhndCmKSuVx0ibZa7U81MyZBBuOaWHrSD85mAsAZ6shZ9Ckn4aaO8Nic1A\"\/<\/figure><\/div>\n\n
\uff08\u88681\uff09<\/div>\n
\u6570\u636e\u6536\u96c6\u548c\u7b5b\u9009<\/div>\n
\u63a5\u7740\uff0c\u4f5c\u8005\u6536\u96c6\u4e86\u76ee\u524d\u5df2\u53d1\u8868\u7684\u8986\u76d6\u5168\u4e16\u754c\u8303\u56f4\u768412\u4e2a\u9879\u76ee\u7684589,306\u4e2a\u4e2a\u4f53\u57fa\u56e0\u7ec4\u6570\u636e\uff08\u6570\u636e\u6765\u6e90\u89c1\u88682\uff09\uff0c\u5e94\u7528\u4e0a\u8ff0\u5efa\u7acb\u7684CAP\u548cEAP\u68c0\u6d4b\u6a21\u5f0f\u8fdb\u884c\u6570\u636e\u7b5b\u9009\uff0c\u6700\u7ec8\u5728CAP\u4e2d\u9274\u5b9a\u5f97\u5230367\u4e2a\u5019\u9009\u4e2a\u4f53\uff08\u5305\u542b44\u4e2a\u7a81\u53d8\uff09\uff0c\u5728EAP\u4e2d\u9274\u5b9a\u5f97\u523015,230\u4e2a\u5019\u9009\u4e2a\u4f53\uff08\u5305\u542b256\u4e2a\u7a81\u53d8\uff09\uff0c\u5408\u8ba115,597\u4e2a\u5019\u9009\u4e2a\u4f53\u3002\u63a5\u7740\u4f5c\u8005\u53bb\u9664\u4e866,667\u4e2a\u7531\u6570\u636e\u8d28\u91cf\u5bfc\u81f4\u7684\u4f4e\u7f6e\u4fe1\u5ea6\u5019\u9009\u4e2a\u4f53\uff0c\u53c8\u53bb\u9664\u4e868,227\u4e2a\u7531\u4e8e\u6240\u8986\u76d6\u7684\u7b49\u4f4d\u57fa\u56e0\u9891\u7387\u9ad8\u4e8e0.5%\u6216\u8005\u6570\u636e\u65e0\u6cd5\u7ee7\u7eed\u8ffd\u8e2a\u7684\u5019\u9009\u4e2a\u4f53\u3002<\/div>\n\n
\n
\"RmFicvQBAkgDtRECtvBP5ibLqnREzJXDrhkxAYYKEYUodKe5KnHJ7xdFOKGiaE2ydsXRW69R7qTrjYT1uCTH8wwcw\"\/<\/figure><\/div>\n\n
\uff08\u88682\uff09\u00a0<\/div>\n
\u5bf9\u8fd9\u6b64\u65f6\u6240\u5269\u7684303\u4e2a\u521d\u7b5b\u5019\u9009\u4e2a\u4f53\uff0c\u4f5c\u8005\u8fdb\u884c\u4e86\u8fdb\u4e00\u6b65\u7684\u624b\u52a8\u7b5b\u9009\uff0c245\u4e2a\u4e2a\u4f53\u7531\u4e8e\u5bf9\u5e94\u75be\u75c5\u7684\u8868\u73b0\u5ea6\u4e0d\u8db3\u591f\u5f3a\u800c\u88ab\u53bb\u9664\uff0c16\u4e2a\u4e2a\u4f53\u7531\u4e8e\u6240\u643a\u5e26\u53d8\u5f02\u7f3a\u4e4f\u8db3\u591f\u7684\u6587\u732e\u652f\u6301\u88ab\u53bb\u9664\uff0c14\u4e2a\u4e2a\u4f53\u7531\u4e8e\u4e0d\u8db3\u591f\u201c\u5065\u5eb7\u201d\u88ab\u6392\u9664\uff0c15\u4e2a\u4e2a\u4f53\u5728sanger\u6d4b\u5e8f\u9a8c\u8bc1\u540e\u53d1\u73b0\u4e3a\u6742\u5408\u5b50\uff0c\u4e0e\u6700\u521d\u6d4b\u5e8f\u6570\u636e\u663e\u793a\u4e3a\u7eaf\u5408\u5b50\u4e0d\u4e00\u81f4\u88ab\u6392\u9664\uff08\u88683\uff09\uff0c\u6700\u7ec8\u5269\u4f5913\u4e2a\u6ee1\u8db3\u6761\u4ef6\u7684\u5019\u9009\u4e2a\u4f53\uff08\u88684\uff09\uff0c\u8fd913\u4e2a\u4e2a\u4f53\u643a\u5e26\u7406\u8bba\u4e0a\u5bfc\u81f4\u4e25\u91cd\u5b5f\u5fb7\u5c14\u75be\u75c5\u7684\u57fa\u56e0\u7a81\u53d8\uff0c\u4f46\u8868\u578b\u5065\u5eb7\u3002<\/div>\n\n
\n
\"RmFicvQBAkgDtRECtvBP5ibLqnREzJXDrh37m6B3xVFUXVKVG9dFyIQPbWRvliapz5xSXde6voIOaxeT1ia0zfzgFA\"\/<\/figure><\/div>\n\n
\uff08\u88683\uff09 \u00a0<\/div>\n\n
\n
\"RmFicvQBAkgDtRECtvBP5ibLqnREzJXDrhmIJfyT6CecNJvOIncicLlTicaibeqUuTbNK9fqJqNojAaEibSDCoficxK4g\"\/<\/figure><\/div>\n\n
\uff08\u88684\uff09 \u00a0<\/div>\n
\u7ed3\u679c\u548c\u610f\u4e49<\/div>\n
\u5728\u968f\u540e\u7684\u5de5\u4f5c\u4e2d\uff0c\u4f5c\u8005\u8bd5\u56fe\u5bf9\u5f15\u8d77\u8fd9\u4e00\u73b0\u8c61\u7684\u4fdd\u62a4\u6027\u53d8\u5f02\u57fa\u56e0\u52a0\u4ee5\u7b5b\u9009\uff0c\u4f46\u7531\u4e8e\u6837\u672c\u6570\u91cf\u8fc7\u5c11\u800c\u65e0\u6cd5\u6709\u6548\u8fdb\u884c\u3002\u4f46\u8be5\u5de5\u4f5c\u9996\u6b21\u5728\u4eba\u7fa4\u4e2d\u627e\u5230\u4e86\u5bf9\u4f20\u7edf\u8ba4\u8bc6\u4e0a\u5177\u6709\u5f3a\u81f4\u75c5\u6027\u5b5f\u5fb7\u5c14\u9057\u4f20\u75be\u75c5\u514d\u75ab\u7684\u4e2a\u4f53\u7684\u5b58\u5728\uff0c\u63d0\u793a\u5728\u4eba\u7c7b\u4e2d\u5b58\u5728\u66f4\u4e3a\u590d\u6742\u3001\u66f4\u4e3a\u666e\u904d\u3001\u6548\u5e94\u4e5f\u66f4\u5f3a\u7684\u57fa\u56e0\u4e0a\u4f4d\u6548\u5e94\uff0c\u800c\u53d1\u6398\u8fd9\u4e9b\u6f5c\u5728\u57fa\u56e0\uff0c\u5bf9\u4e8e\u672a\u6765\u67d0\u4e9b\u5b5f\u5fb7\u5c14\u9057\u4f20\u75be\u75c5\u7684\u6cbb\u7597\uff0c\u5177\u6709\u6f5c\u5728\u7684\u91cd\u8981\u4ef7\u503c\u3002<\/div>\n
\u00a0<\/div>\n
\u5173\u4e8e\u57fa\u56e0\u6167<\/div>\n
\u5728\u7cbe\u51c6\u533b\u7597\u9886\u57df\u6574\u5408\u53d1\u5c55\u671f\uff0c\u57fa\u56e0\u6167\u4f5c\u4e3a\u7cbe\u51c6\u533b\u7597\u884c\u4e1a\u4e92\u8054\u7f51\u4fe1\u606f\u5e73\u53f0\uff0c\u7ed3\u5408\u8fd1\u5341\u5e74\u884c\u4e1a\u5b9e\u8df5\u7ecf\u9a8c\uff0c\u4e92\u8054\u7f51\u4ea7\u54c1\u548c\u5927\u6570\u636e\u56e2\u961f\uff0c\u8fde\u63a5\u4e13\u5bb6\u3001\u4ea7\u4e1a\u548c\u8d44\u672c\uff0c\u6574\u5408\u5404\u65b9\u8d44\u6e90\uff1b\u8fd0\u7528Web 4.0\u642d\u5efa\u4fe1\u606f\u5e73\u53f0\uff0c\u4e3a\u4e13\u5bb6\u5b9e\u73b0\u77e5\u8bc6\u53d8\u73b0\uff1b\u642d\u5efa\u884c\u4e1a\u4fe1\u606f\u6570\u636e\u5e93\uff0c\u4e3a\u4f01\u4e1a\u51b3\u7b56\u63d0\u4f9b\u5e02\u573a\u6570\u636e\u652f\u6301\u3002\u4f7f\u8fde\u63a5\u4ea7\u751f\u4ef7\u503c\uff0c\u8ba9\u77e5\u8bc6\u83b7\u5f97\u5c0a\u91cd\u3002<\/div>\n
\u00a0<\/div>\n
\u884c\u7814\u3001\u54a8\u8be2\u3001\u4f1a\u8bae\u3001\u54c1\u5ba3\u7b49\u670d\u52a1\uff1a<\/div>\n
\u7535\u8bdd\uff1a010-56527551 \/ 400-088-7466<\/div>\n
\u5730\u5740\uff1a\u5317\u4eac\u5e02\u6d77\u6dc0\u533a\u4e2d\u5173\u6751\u5927\u88571\u53f7<\/div>\n
\u5b98\u7f51\uff1awww.geneclub.net.cn<\/div>\n
\u90ae\u7bb1\uff1ainfo@genonet.cn<\/div>\n\n
\n
\"eicZhoGYCfyZYwdCafib0wr4HxcjzHjllGtQPicsLaPhtHQl6lC53yibmAuLhFKscjSicsAGB8skX2tnsC80micOlwhw\"\/<\/figure><\/div>","protected":false},"excerpt":{"rendered":"

\u57fa\u56e0\u6167\u51fa\u54c1<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[2162,2163],"class_list":["post-10979","post","type-post","status-publish","format-standard","hentry","category-industryresearch","tag-2162","tag-2163"],"_links":{"self":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/10979","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/comments?post=10979"}],"version-history":[{"count":3,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/10979\/revisions"}],"predecessor-version":[{"id":14511,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/10979\/revisions\/14511"}],"wp:attachment":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/media?parent=10979"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/categories?post=10979"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/tags?post=10979"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}