{"id":11554,"date":"2018-07-03T11:56:20","date_gmt":"2018-07-03T03:56:20","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzIzMzE4MzU3NA==&mid=504150596&idx=1&sn=175990a2119e1d155ca6df83a28fc48d&chksm=73719a7d4406136b853ad0ed445fe763f30b1c21416597c5c083bfd71af3810250442051574a#rd"},"modified":"2026-04-09T09:18:57","modified_gmt":"2026-04-09T01:18:57","slug":"5255100-3","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2018\/07\/03\/5255100-3\/","title":{"rendered":"\u91d1\u57df\u533b\u5b66\u4e8e\u4e16\u8f89\uff1a\u7559\u7f8e20\u4f59\u5e74\u5f52\u56fd\u63a2\u7d22\u533b\u5b66\u9057\u4f20\u5b66\u53d1\u5c55\uff5c\u5927\u5496\u8bba\u506576\u671f"},"content":{"rendered":"

<\/p>\n

\n\n
\n
\"RmFicvQBAkgCuC54K47siaoibvbClYbpoQdmoEA7Yo9T0l4l5c9wsK8DWv13zXvBYojNDUX4HpbxOEe8enSicCuVVg\"\/<\/figure><\/div>\n\n<\/div>\n
<\/div>\n
<\/div>\n
\u5173\u952e\u8bcd\uff1a\u533b\u5b66\u9057\u4f20\u5b66 \u5e08\u4ece\u674e\u749e \u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b<\/div>\n
\u9605\u8bfb\u65f6\u95f4\uff1a\u7ea67\u5206\u949f<\/div>\n
<\/div>\n
<\/div>\n
\u6587\/\u57fa\u56e0\u6167<\/div>\n
<\/div>\n
\u5728\u57fa\u56e0\u6d4b\u5e8f\u7b49\u751f\u7269\u6280\u672f\uff08BT\uff09\u548c\u4eba\u5de5\u667a\u80fd\u7b49\u4fe1\u606f\u6280\u672f\uff08IT\uff09\u52a0\u901f\u6570\u5b57\u751f\u547d\u5065\u5eb7\u53d1\u5c55\u7684\u5f53\u4e0b\uff0c\u57fa\u56e0\u6167\u4e3b\u529e\u300a\u5927\u5496\u8bba\u5065\u300b\uff0c\u6c47\u805a\u6570\u5b57\u751f\u547d\u5065\u5eb7\u9886\u57df\u5148\u950b\u53c2\u4e0e\u524d\u77bb\u6027\u63a2\u8ba8\u3002\u7b2c76\u671f\u5609\u5bbe\u4e3a\u91d1\u57df\u533b\u5b66\u9ad8\u7ea7\u526f\u603b\u88c1\u3001\u9996\u5e2d\u79d1\u5b66\u5bb6\u4e8e\u4e16\u8f89\u6559\u6388\uff0c\u66fe\u5e08\u4ece\u6211\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u5960\u57fa\u4eba\u674e\u749e\u6559\u6388\uff0c\u4ece\u7f8e\u56fd\u897f\u96c5\u56fe\u513f\u7ae5\u533b\u9662\u3001\u534e\u76db\u987f\u5927\u5b66\u533b\u5b66\u9662\u79d1\u7814\u6559\u5b6620\u4f59\u5e74\u540e\u5f52\u56fd\u53c2\u4e0e\u4ea7\u4e1a\u5b9e\u8df5\u3002<\/div>\n
<\/div>\n
<\/div>\n
<\/div>\n
<\/div>\n
\n\n
\n
\"eicZhoGYCfyaWEN6BqK3ILkMN9ic6XvKImfJWGDdXS1Oh6vzeEUibP1IicaDxqicAjn0UqBCyG36s8HetDJ8I9Nibdng\"\/<\/figure><\/div>\n\n
\u5f80\u671f\u76f8\u5173 \u9ec4\u5c1a\u5fd7<\/a>\u9646\u56fd\u8f89<\/a>\u4e01\u6d01<\/a>\u6c88\u4ea6\u5e73<\/a>\u9ec4\u56fd\u82f1<\/a>\u7941\u9e23<\/a><\/div>\n
\u00a0<\/div>\n
1\u3001\u5728\u7f8e20\u4f59\u5e74\u79d1\u7814\u540e\u5f52\u56fd<\/div>\n
\u3010\u57fa\u56e0\u6167\u3011\u4e8e\u6559\u6388\u60a8\u597d\uff01\u60a8\u62e5\u6709\u7f8e\u56fd\u533b\u5b66\u4f1a\u533b\u5b66\u9057\u4f20\u5b66\u884c\u533b\u6267\u7167\uff0c\u5728\u7f8e\u56fd\u5de5\u4f5c20\u4f59\u5e74\u56de\u56fd\uff0c\u76ee\u524d\u56fd\u5185\u7684\u533b\u5b66\u9057\u4f20\u5b66\u548c\u9057\u4f20\u54a8\u8be2\u4eba\u624d\u6559\u80b2\u90fd\u5728\u521a\u8d77\u6b65\u9636\u6bb5\uff0c\u5728\u501f\u9274\u7f8e\u56fd\u7ecf\u9a8c\u540c\u65f6\u4e5f\u5728\u63a2\u7d22\u4e2d\u56fd\u7684\u7279\u8272\uff0c\u60a8\u80fd\u8c08\u8c08\u81ea\u5df1\u7684\u7ecf\u5386\u540c\u65f6\u8c08\u8c08\u8fd9\u4e2a\u95ee\u9898\u5417\uff1f\u8c22\u8c22\u3002<\/div>\n
\u3010\u4e8e\u4e16\u8f89\u6559\u6388\u3011\u6211\u672c\u79d1\u5c31\u8bfb\u4e8e\u54c8\u5c14\u6ee8\u533b\u79d1\u5927\u5b66\u533b\u5b66\u7cfb\u3002\u5927\u5b66\u671f\u95f4\u5c31\u5bf9\u533b\u5b66\u9057\u4f20\u5b66\u4ea7\u751f\u4e86\u6d53\u539a\u7684\u5174\u8da3\uff0c\u9042\u51b3\u5b9a\u6bd5\u4e1a\u540e\u4e0d\u5f53\u533b\u751f\uff0c\u800c\u8003\u53d6\u533b\u5b66\u9057\u4f20\u5b66\u4e13\u4e1a\u7684\u7814\u7a76\u751f\uff0c\u4ece\u6b64\u4e49\u65e0\u53cd\u987e\u7684\u8d70\u4e0a\u4e86\u533b\u5b66\u9057\u4f20\u5b66\u4e4b\u8def\u3002\u5728\u56fd\u5916\u768420\u591a\u5e74\uff0c\u6700\u521d\u4e00\u4e9b\u5e74\u662f\u4ece\u4e8b\u533b\u5b66\u9057\u4f20\u5b66\u79d1\u7814\u5de5\u4f5c\uff0c\u83b7\u5f97ABMG\u8d44\u8d28\u540e\uff0c\u4e3b\u8981\u4ece\u4e8b\u57fa\u56e0\u53ca\u57fa\u56e0\u7ec4\u7684\u4e34\u5e8a\u68c0\u6d4b\u5de5\u4f5c\uff0c\u4e5f\u8fdb\u884c\u533b\u5b66\u9057\u4f20\u5b66\u6559\u5b66\u53ca\u79d1\u7814\u5de5\u4f5c\u3002<\/div>\n
\u00a0<\/div>\n
\u7f8e\u56fd\u7684\u4e34\u5e8a\u9057\u4f20\u533b\u5e08\uff08clinical geneticist\uff09, \u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u9057\u4f20\u5b66\u5bb6\uff08clinical laboratory geneticist\uff09\u53ca\u9057\u4f20\u54a8\u8be2\u5e08\uff08genetic counselor\uff09\u65e9\u5df2\u7ecf\u6709\u975e\u5e38\u5b8c\u5907\u7684\u4eba\u624d\u57f9\u517b\u4f53\u7cfb\uff0c\u5728\u8fd9\u4e9b\u65b9\u9762\u4e2d\u56fd\u7684\u5dee\u8ddd\u975e\u5e38\u5927\u3002<\/div>\n
\u53ef\u559c\u7684\u662f\uff0c\u5728\u8fc7\u53bb\u7684\u51e0\u5e74\u91cc\uff0c\u4e2d\u56fd\u7684\u5404\u4e2a\u65b9\u9762\u7684\u57f9\u8bad\u90fd\u6709\u4e86\u957f\u8db3\u7684\u8fdb\u6b65\uff0c\u4f46\u8981\u8d70\u7684\u8def\u8fd8\u975e\u5e38\u9065\u8fdc\u548c\u5145\u6ee1\u6311\u6218\uff0c\u4e3b\u8981\u662f\u57fa\u7840\u592a\u8584\u5f31\uff0c\u73b0\u6709\u7684\u57f9\u8bad\u673a\u5236\u5c1a\u672a\u5f62\u6210\u4f53\u7cfb\u3002\u8981\u60f3\u5b9e\u73b0\u8fd9\u4e9b\u4f53\u7cfb\u7684\u6b63\u89c4\u5316\u53ca\u56fd\u9645\u5316\uff0c\u9700\u8981\u653f\u5e9c\u76f8\u5173\u90e8\u95e8\u3001\u884c\u4e1a\u534f\u4f1a\u3001\u4f53\u5236\u5185\u5916\u7684\u673a\u6784\u53ca\u4e13\u4e1a\u4eba\u58eb\u9f50\u5fc3\u534f\u529b\uff0c \u5728\u5145\u5206\u501f\u9274\u7f8e\u56fd\u7ecf\u9a8c\u7684\u57fa\u7840\u4e0a\uff0c\u8d70\u51fa\u4e00\u6761\u4e2d\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u57f9\u517b\u4e4b\u8def\u3002<\/div>\n\n
\n
\"eicZhoGYCfyZASibmT5tuhlfHqIZrYxnXupKzaywLdVyDHAY8WIicgbdLiaAubnib0ULuvMkW6ULlV0ag5h7SD1pv3A\"\/<\/figure><\/div>\n\n
\u56fe\uff0c\u4e8e\u4e16\u8f89\u6559\u6388\u5728Arozona\uff0c\u7167\u7247\u7531\u672c\u4eba\u63d0\u4f9b<\/div>\n
2\u3001\u57fa\u56e0\u68c0\u6d4b\u4e34\u5e8a\u5e94\u7528\u7684\u56db\u5927\u8981\u70b9<\/div>\n
\u3010\u57fa\u56e0\u6167\u3011\u60a8\u4f5c\u4e3a\u91d1\u57df\u533b\u5b66\u7684\u9996\u5e2d\u79d1\u5b66\u5bb6\uff0c\u5bf9\u57fa\u56e0\u68c0\u6d4b\u79d1\u7814\u5230\u4ea7\u4e1a\u7684\u8f6c\u5316\u548c\u8fde\u63a5\u73af\u8282\u5f88\u719f\u6089\u3002\u6211\u4eec\u4e5f\u770b\u5230\u56fd\u5185\u57fa\u56e0\u68c0\u6d4b\u9886\u57df\u4ecd\u5b58\u5728\u4e00\u4e9b\u95ee\u9898\uff0c\u6bd4\u5982\u6570\u636e\u5171\u4eab\u3001\u4ea7\u5b66\u7814\u7684\u8fde\u63a5\u7b49\u4f53\u7cfb\u5efa\u8bbe\uff0c\u5bf9\u4e8e\u6211\u56fd\u57fa\u56e0\u68c0\u6d4b\u4e34\u5e8a\u5e94\u7528\u60a8\u6709\u54ea\u4e9b\u5efa\u8bbe\u6027\u5efa\u8bae\u5462\uff1f<\/div>\n
\u3010\u4e8e\u4e16\u8f89\u6559\u6388\u3011\u4e3a\u4e86\u4f7f\u57fa\u56e0\u68c0\u6d4b\u66f4\u597d\u7684\u670d\u52a1\u4e8e\u4e34\u5e8a\uff0c\u4e0e\u56fd\u5916\uff0c\u5c24\u5176\u662f\u4e0e\u7f8e\u56fd\u76f8\u6bd4\uff0c\u6211\u56fd\u5728\u57fa\u56e0\u68c0\u6d4b\u7684\u4e34\u5e8a\u5e94\u7528\u6709\u51e0\u4e2a\u65b9\u9762\u9700\u8981\u52a0\u5f3a\uff1a<\/div>\n
1\uff09\u4eba\u624d\u57f9\u517b\u56fd\u5bb6\u4f53\u7cfb\u7684\u5efa\u7acb\uff1a\u4e2d\u56fd\u9700\u8981\u5927\u91cf\u7684\u7cfb\u7edf\u5316\u57f9\u517b\u7684\u5b9e\u9a8c\u5ba4\u6280\u672f\u64cd\u4f5c\u4eba\u5458\u3001\u9057\u4f20\u54a8\u8be2\u5e08\u3001\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u9057\u4f20\u5b66\u5bb6\u53ca\u4e34\u5e8a\u9057\u4f20\u533b\u5e08\u3002\u4ece\u4e8b\u533b\u5b66\u9057\u4f20\u5b66\u7814\u7a76\u548c\u4ece\u4e8b\u533b\u5b66\u9057\u4f20\u5b66\u4e34\u5e8a\u670d\u52a1\u662f\u5b8c\u5168\u4e0d\u540c\u7684\u4f53\u7cfb\u3002\u800c\u6211\u56fd\u76ee\u524d\u4ece\u4e8b\u57fa\u56e0\u68c0\u6d4b\u670d\u52a1\u7684\u4eba\u5458\u7edd\u5927\u591a\u6570\u662f\u79d1\u7814\u51fa\u8eab\uff0c\u4e34\u5e8a\u68c0\u6d4b\u7684\u6cd5\u5f8b\u6cd5\u89c4\u3001\u653f\u5e9c\u653f\u7b56\u3001\u884c\u4e1a\u534f\u4f1a\u7684\u6307\u5357\u53ca\u6807\u51c6\u3001\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u7684\u8fd0\u8425\u4f53\u7cfb\u3001\u4e34\u5e8a\u68c0\u6d4b\u9879\u76ee\u7684\u5404\u79cd\u6d4b\u8bd5\u53ca\u9a8c\u8bc1\u8981\u6c42\u7b49\u90fd\u6709\u5f88\u5927\u7684\u63d0\u5347\u7a7a\u95f4\u3002<\/div>\n
\u5c3d\u7ba1\u5404\u4e13\u4e1a\u7ec4\u7ec7\u53ca\u4e13\u5bb6\u4eec\u90fd\u5728\u52aa\u529b\u5730\u57f9\u8bad\u8fd9\u65b9\u9762\u7684\u4eba\u624d\uff0c\u4f46\u5b58\u5728\u7406\u8bba\u8bfe\u7684\u6df1\u5ea6\u53ca\u5e7f\u5ea6\u4e0d\u591f\u3001\u7406\u8bba\u4e0e\u4e34\u5e8a\u5b9e\u8df5\u8131\u79bb\u7b49\u95ee\u9898\u3002\u6700\u6709\u6548\u7684\u65b9\u5f0f\u53ef\u80fd\u9700\u8981\u653f\u5e9c\u76f8\u5173\u90e8\u95e8\u6765\u4e3b\u5bfc\uff0c\u9488\u5bf9\u57fa\u56e0\u53ca\u57fa\u56e0\u7ec4\u68c0\u6d4b\u7684\u4e34\u5e8a\u9700\u6c42\uff0c\u5728\u672c\u79d1\u3001\u7855\u58eb\u3001\u535a\u58eb\u57f9\u517b\u3001\u4e13\u79d1\u57f9\u8bad\u3001\u8d44\u8d28\u8ba4\u8bc1\u3001\u804c\u4e1a\u8ba4\u8bc1\u3001\u7ee7\u7eed\u6559\u80b2\u7b49\u65b9\u9762\u628a\u5404\u4e2a\u4f53\u7cfb\u5efa\u7acb\u8d77\u6765\u3002<\/div>\n
\u00a0<\/div>\n
2\uff09\u5f3a\u5316\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u6807\u51c6\u5316\u4f53\u7cfb\u7684\u5efa\u7acb\uff1a\u636e\u6211\u6240\u77e5\uff0c\u4e2d\u56fd1000\u4f59\u5bb6\u57fa\u56e0\u53ca\u57fa\u56e0\u7ec4\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u4e2d\uff0c\u5927\u591a\u6570\u90fd\u6ca1\u6709\u5f97\u5230ISO15189\u4f53\u7cfb\u7684\u8ba4\u8bc1\uff0c\u83b7\u5f97CAP\u8ba4\u8bc1\u7684\u66f4\u662f\u5be5\u5be5\u65e0\u51e0\u3002\u5982\u679c\u6ca1\u6709\u4e00\u4e2a\u9ad8\u8d28\u91cf\u7684\u5b9e\u9a8c\u5ba4\u4f53\u7cfb\uff0c\u8981\u60f3\u4fdd\u8bc1\u9ad8\u8d28\u91cf\u7684\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u662f\u4e0d\u53ef\u80fd\u7684\u3002<\/div>\n
\u8981\u4fdd\u8bc1\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u80fd\u63d0\u4f9b\u9ad8\u8d28\u91cf\u7684\u68c0\u6d4b\u670d\u52a1\uff0c\u653f\u5e9c\u5e94\u8be5\u5bf9\u8fd9\u4e9b\u5b9e\u9a8c\u5ba4\u8bbe\u5b9a\u76f8\u5e94\u8d44\u8d28\u7684\u7684\u51c6\u5165\u3002\u53e6\u5916\uff0c\u7f8e\u56fd\u533b\u5b66\u68c0\u9a8c\u90e8\u95e8\u81ea\u5efa\u68c0\u6d4b\u65b9\u6cd5\uff08laboratory developed tests\uff0cLDT\uff09\u7684\u5b9e\u9a8c\u5ba4\u4f53\u7cfb\u5728\u4fc3\u8fdb\u5b9e\u9a8c\u5ba4\u68c0\u6d4b\u670d\u52a1\u65b9\u9762\u8d77\u4e86\u5de8\u5927\u7684\u63a8\u52a8\u4f5c\u7528\uff0c\u4e2d\u56fd\u5728\u8fd9\u65b9\u9762\u5e94\u8be5\u501f\u9274\u3002<\/div>\n
\u00a0<\/div>\n
3\uff09\u89c4\u8303\u57fa\u56e0\u53ca\u57fa\u56e0\u7ec4\u68c0\u6d4b\u62a5\u544a\u7684\u884c\u4e1a\u6807\u51c6\uff1a\u56fd\u9645\u4e0a\u5bf9\u4e8e\u57fa\u56e0\u53ca\u57fa\u56e0\u7ec4\u68c0\u6d4b\u62a5\u544a\u6709\u5b9a\u671f\u66f4\u65b0\u7684\u6307\u5bfc\u6027\u7684\u884c\u4e1a\u6807\u51c6\uff0c\u63d0\u4f9b\u68c0\u6d4b\u670d\u52a1\u7684\u5b9e\u9a8c\u5ba4\u90fd\u4f1a\u53c2\u7167\u6267\u884c\u3002\u4e4b\u524d\u57fa\u56e0\u6167\u548c\u76f8\u5173\u884c\u4e1a\u673a\u6784\u7ec4\u7ec7\u57fa\u56e0\u884c\u4e1a\u8054\u76df\uff08\u8be6\u60c5<\/a>\uff09\uff0c\u5f62\u6210\u76f8\u5173\u62a5\u544a\u5171\u8bc6\uff0c\u662f\u4e00\u79cd\u5f88\u597d\u7684\u5c1d\u8bd5\uff0c \u5bf9\u63a8\u52a8\u57fa\u56e0\u53ca\u57fa\u56e0\u7ec4\u68c0\u6d4b\u62a5\u544a\u7684\u884c\u4e1a\u6807\u51c6\u4f1a\u8d77\u5230\u52a9\u529b\u7684\u4f5c\u7528\u3002\u4e3a\u4e86\u4f7f\u8fd9\u4e9b\u5171\u8bc6\u80fd\u540e\u7eed\u843d\u5730\uff0c \u5e94\u8be5\u8ba9\u66f4\u591a\u7684\u4e13\u5bb6\u53c2\u4e0e\uff0c\u4f7f\u5176\u5177\u6709\u5e7f\u6cdb\u7684\u4ee3\u8868\u6027\u3002<\/div>\n
\u00a0<\/div>\n
4\uff09\u8981\u52a0\u5f3a\u548c\u4e34\u5e8a\u533b\u751f\u4e4b\u95f4\u7684\u8054\u7cfb\uff1a\u5bf9\u4e00\u4e9b\u533b\u5b66\u9057\u4f20\u5b66\u57fa\u672c\u7684\u7406\u8bba\u53ca\u6280\u672f\u95ee\u9898\u8981\u591a\u6c9f\u901a\u3002\u6bd4\u5982\u57fa\u56e0\u6d4b\u5e8f\u4e0d\u7b49\u4e8e\u57fa\u56e0\u68c0\u6d4b\uff0c\u80da\u7cfb\u53d8\u5f02\u4e0d\u4e00\u5b9a\u662f\u9057\u4f20\u6027\u7684\u53d8\u5f02\u7b49\u7b49\u3002\u4f7f\u4e34\u5e8a\u533b\u751f\u7406\u89e3\u57fa\u56e0\u68c0\u6d4b\u7684\u590d\u6742\u6027\uff0c\u5e76\u80fd\u9009\u62e9\u5408\u9002\u7684\u6280\u672f\u5e73\u53f0\u8fdb\u884c\u68c0\u6d4b\u5c24\u4e3a\u91cd\u8981\u3002\u7531\u4e8e\u5f88\u591a\u9057\u4f20\u75c5\u6781\u5176\u7f55\u89c1\uff0c\u5728\u4efb\u4f55\u4e00\u4e2a\u533b\u9662\u5efa\u7acb\u5b8c\u6574\u7684\u68c0\u6d4b\u5e73\u53f0\u5e76\u80fd\u4fdd\u8bc1\u9ad8\u8d28\u91cf\u7684\u8fd0\u8f6c\u90fd\u5f88\u96be\uff0c\u7b2c\u4e09\u65b9\u68c0\u9a8c\u673a\u6784\u80fd\u591f\u53d1\u6325\u4e0d\u53ef\u66ff\u4ee3\u7684\u4f5c\u7528\u3002<\/div>\n
\u00a0<\/div>\n
3\u3001\u4e09\u4e07\u4f8b\u9633\u6027\u6837\u672c\u4fc3\u8fdb\u7f55\u89c1\u75c5\u8bca\u7597<\/div>\n
\u3010\u57fa\u56e0\u6167\u3011\u65e5\u524d\uff0c\u56fd\u5bb6\u9996\u6279\u7f55\u89c1\u75c5\u76ee\u5f55\u516c\u5e03\uff0c\u6211\u4eec\u770b\u5230\u91d1\u57df\u9488\u5bf9\u8fd9121\u79cd\u7f55\u89c1\u75c5\u5df2\u7ecf\u7d2f\u8ba1\u68c0\u51fa\u9633\u6027\u6837\u672c3\u4e07\u4f8b\uff0c\u8fd9\u5176\u4e2d\u6d89\u53ca\u5230\u54ea\u4e9b\u6280\u672f\u5e73\u53f0\uff1f\u8bf7\u60a8\u7b80\u8981\u8c08\u8c08\u5176\u4e2d\u7684\u91cd\u5927\u610f\u4e49\u3002<\/div>\n
\u3010\u4e8e\u4e16\u8f89\u6559\u6388\u3011\u7ecf\u8fc7\u591a\u5e74\u7684\u52aa\u529b\uff0c\u91d1\u57df\u533b\u5b66\u5df2\u7ecf\u642d\u5efa\u8d77\u5168\u65b9\u4f4d\u7684\u6280\u672f\u5e73\u53f0\u7528\u4e8e\u7f55\u89c1\u75c5\u7684\u68c0\u6d4b\uff1a\u5305\u62ec\u57fa\u56e0\u53ca\u57fa\u56e0\u7ec4\u68c0\u6d4b\uff08\u6838\u578b\u5206\u6790\u3001\u8367\u5149\u539f\u4f4d\u6742\u4ea4\u3001CMA\u3001MLPA\u3001Sanger \u6d4b\u5e8f\u3001NGS\u7b49\uff09\u3001\u4ee3\u8c22\u7ec4\u53ca\u86cb\u767d\u8d28\u7ec4\u68c0\u6d4b\uff08\u8d28\u8c31\u53ca\u9176\u5b66\u4e3a\u6838\u5fc3\u7684\u751f\u5316\u68c0\u6d4b\u6280\u672f\uff09\u3001\u7ec6\u80de\u53ca\u7ec4\u7ec7\u75c5\u7406\u68c0\u6d4b\u7b49\u3002\u6240\u6709\u7684\u68c0\u6d4b\u9879\u76ee\u90fd\u662f\u5728\u56fd\u9645\u6807\u51c6\u8ba4\u8bc1\u7684\u5b9e\u9a8c\u5ba4\u68c0\u6d4b\u4f53\u7cfb\u4e0b\u8fd0\u8425\uff08\u5982CAP\uff0cISO15189\u4f53\u7cfb\u7b49\uff09\u3002\u5bf9\u4e8e\u540c\u4e00\u4e2a\u4f53\u6240\u8fdb\u884c\u7684\u4e0d\u540c\u68c0\u6d4b\u9879\u76ee\u53ef\u4ee5\u901a\u8fc7\u76f8\u5e94\u7684\u8ba1\u7b97\u673a\u8f6f\u4ef6\u8fdb\u884c\u62a5\u544a\u6574\u5408\u3002<\/div>\n
\u5728\u4e3a\u75c5\u4eba\u670d\u52a1\u7684\u540c\u65f6\uff0c\u7531\u4e8e\u8fd9\u4e9b\u7f55\u89c1\u75c5\u6570\u636e\u5177\u6709\u5e7f\u6cdb\u7684\u5730\u57df\u548c\u4eba\u7fa4\u4ee3\u8868\u6027\uff0c\u5728\u7814\u7a76\u4e2d\u56fd\u4eba\u7fa4\u7f55\u89c1\u75c5\u7684\u53d1\u75c5\u7387\u53ca\u68c0\u51fa\u7387\u3001\u9690\u6027\u81f4\u75c5\u57fa\u56e0\u643a\u5e26\u8005\u7684\u9891\u7387\u3001\u4ee5\u53ca\u4e2d\u56fd\u4eba\u7fa4\u4e2d\u5927\u91cf\u7684\u7279\u6709\u9057\u4f20\u53d8\u5f02\u7c7b\u578b\u7684\u4e34\u5e8a\u610f\u4e49\u90fd\u5177\u6709\u91cd\u8981\u7684\u79d1\u5b66\u4ef7\u503c\u53ca\u4e34\u5e8a\u5b9e\u7528\u4ef7\u503c\u3002\u8fd9\u4e9b\u5b9d\u8d35\u7684\u8d44\u6599\u5bf9\u4e8e\u7f55\u89c1\u75c5\u4ea7\u524d\u68c0\u6d4b\u3001\u65b0\u751f\u513f\u7b5b\u67e5\u3001\u4ea7\u540e\u60a3\u513f\u7f55\u89c1\u75c5\u7684\u8bca\u65ad\u53ca\u201c\u5b64\u513f\u836f\u201d\u7684\u7814\u53d1\u7b49\u90fd\u5177\u6709\u91cd\u5927\u610f\u4e49\u3002<\/div>\n
\u5728\u75c5\u4eba\u77e5\u60c5\u53ca\u4fdd\u62a4\u9690\u79c1\u7684\u524d\u63d0\u4e0b\uff0c\u5229\u7528\u8fd9\u4e9b\u7f55\u89c1\u7684\u57fa\u56e0\u7a81\u53d8\u4f4d\u70b9\uff0c\u91c7\u53d623andMe\u7684\u6a21\u5f0f\u6216\u8bb8\u662f\u4e00\u6761\u9014\u5f84\u3002\u6211\u4eec\u8fd8\u5728\u4e0d\u65ad\u7684\u5b8c\u5584\u9488\u5bf9\u201c\u7f55\u89c1\u75c5\u201d\u7684\u4ea7\u54c1\u68c0\u6d4b\u76ee\u5f55\uff0c\u52aa\u529b\u4e0e\u5404\u79cd\u7f55\u89c1\u75c5\u9886\u57df\u7684\u4e34\u5e8a\u4e13\u5bb6\u5408\u4f5c\uff0c\u5efa\u7acb\u5404\u79cd\u7f55\u89c1\u75c5\u7684\u4e13\u79d1\u4f53\u7cfb\u3002<\/div>\n
\u00a0<\/div>\n
4\u3001\u5e08\u4ece\u533b\u5b66\u9057\u4f20\u5b66\u5960\u57fa\u4eba\u674e\u749e\u6559\u6388<\/div>\n
\u3010\u57fa\u56e0\u6167\u3011\u60a8\u66fe\u5e08\u4ece\u6211\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u4e3b\u8981\u5960\u57fa\u4eba\u674e\u749e\u6559\u6388\uff0c\u60a8\u5728\u674e\u749e\u6559\u638870\u548c80\u5bff\u8fb0\u5206\u522b\u64b0\u5199\u4e86\u4e00\u7bc7\u957f\u6587\u4ee5\u8868\u601d\u5ff5\u4e4b\u60c5\uff0c\u8bf7\u60a8\u548c\u5e7f\u5927\u8bfb\u8005\u5206\u4eab\u4e0b\u674e\u8001\u5e08\u7684\u5b66\u672f\u6210\u5c31\u3001\u4ee5\u53ca\u60a8\u5728\u6c42\u5b66\u9053\u8def\u4e0a\u5b9d\u8d35\u7ecf\u5386\u548c\u4f53\u4f1a\u3002<\/div>\n
\u3010\u4e8e\u4e16\u8f89\u6559\u6388\u3011\u4ed6\u662f\u6211\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u7814\u7a76\u7684\u4e3b\u8981\u5960\u57fa\u4eba\u4e4b\u4e00\uff0c\u533b\u5b66\u751f\u7269\u5b66\u4e0e\u533b\u5b66\u9057\u4f20\u5b66\u6559\u5b66\u5de5\u4f5c\u7684\u5148\u9a71\u30021981\u5e74\u6211\u56fd\u5efa\u7acb\u5b66\u4f4d\u5236\u5ea6\u65f6\uff0c\u4ed6\u88ab\u9009\u4e3a\u56fd\u52a1\u9662\u5b66\u4f4d\u59d4\u5458\u4f1a\u5b66\u79d1\u8bc4\u8bae\u7ec4\u6210\u5458\uff0c\u4e5f\u662f\u6211\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u76843\u4f4d\u9996\u6279\u535a\u58eb\u751f\u5bfc\u5e08\u4e4b\u4e00\uff08\u53e6\u4e24\u4f4d\u662f\u5362\u60e0\u6797\u6559\u6388\u53ca\u5434\u65fb\u6559\u6388\uff09\u3002<\/div>\n
\u00a0<\/div>\n
\u674e\u749e\u5148\u751f1945\u5e74\u8003\u5165\u5317\u4eac\u5927\u5b66\u751f\u7269\u7cfb\u5b66\u4e60\uff0c\u5f53\u542c\u8bf4\u5317\u4eac\u5927\u5b66\u751f\u7269\u7cfb\u4e0d\u5982\u6e05\u534e\u5927\u5b66\u751f\u7269\u7cfb\u540e\uff0c1946\u5e74\u8f6c\u8bfb\u6e05\u534e\u5927\u5b66\u751f\u7269\u7cfb\uff0c1949\u5e74\u6e05\u534e\u5927\u5b66\u751f\u7269\u7cfb\u6bd5\u4e1a\u3002\u4e00\u4e2a\u4eba\u80fd\u540c\u65f6\u5728\u5317\u5927\u548c\u6e05\u534e\u8bfb\u672c\u79d1\uff0c\u80af\u5b9a\u662f\u51e4\u6bdb\u9e9f\u89d2\u3002<\/div>\n
\u674e\u749e\u5148\u751f\u662f\u6211\u7684\u6069\u5e08\uff0c\u4e5f\u662f\u6211\u4e00\u751f\u7684\u5076\u50cf\u3002\u4ed6\u5728\u6211\u8003\u53d6\u535a\u58eb\u7814\u7a76\u751f\u3001\u7834\u683c\u63d0\u5347\u4e3a\u4e2d\u7ea7\u53ca\u9ad8\u7ea7\u804c\u79f0\u3001\u51fa\u56fd\u6df1\u9020\u3001\u5b66\u6821\u5206\u914d\u4f4f\u623f\u7b49\u591a\u4e2a\u5de5\u4f5c\u548c\u751f\u6d3b\u5173\u952e\u65f6\u523b\u90fd\u7ed9\u4e88\u4e86\u91cd\u8981\u751a\u81f3\u51b3\u5b9a\u6027\u7684\u5e2e\u52a9\u3002<\/div>\n\n
\n
\"eicZhoGYCfyZASibmT5tuhlfHqIZrYxnXuguu7nPXUARU0nFmUTUedqeIX8kTDAE0EuaezGF1Jz2UXzL0c3FvLqw\"\/<\/figure><\/div>\n\n
\u56fe\uff0c2000\u5e74\u674e\u749e\u8001\u5e08\u6765\u5230\u7f8e\u56fd\uff0c\u4e8e\u4e16\u8f89\u6559\u6388\u9080\u8bf7\u674e\u749e\u8001\u5e08\u5230\u5bb6\u91cc\u505a\u5ba2\uff08Minnesota)\uff0c\u53e6\u5916\u4e24\u4f4d\u5e08\u5144\u5206\u522b\u4ece\u7f8e\u56fd\u5176\u5b83\u57ce\u5e02\u8d76\u6765\u89c1\u674e\u749e\u8001\u5e08\uff0c\u4ece\u5de6\u81f3\u53f3\u5206\u522b\u4e3a\uff1a\u4e8e\u4e16\u8f89\u3001\u5218\u6625\u7965\u3001\u674e\u749e\u8001\u5e08\u3001\u8d75\u4f1a\u6743\uff0c\u7167\u7247\u7531\u4e8e\u4e16\u8f89\u6559\u6388\u63d0\u4f9b<\/div>\n
\u00a0<\/div>\n
\u674e\u749e\u5148\u751f\u5b66\u8bc6\u535a\u5927\u7cbe\u6df1\uff0c\u6cbb\u5b66\u7cbe\u76ca\u6c42\u7cbe\uff0c\u4e3a\u4eba\u5149\u660e\u78ca\u843d\u3002\u4ed6\u7684\u5b66\u672f\u6210\u5c31\u53ca\u5176\u4e30\u5bcc\uff0c\u6bcf\u4e2a\u65f6\u671f\u90fd\u8d70\u5728\u65f6\u4ee3\u7684\u6700\u524d\u6cbf\u3002\u6982\u51b5\u8d77\u6765\u53ef\u5206\u4e3a\u51e0\u4e2a\u65b9\u9762\uff1a<\/div>\n
1\uff09\u751f\u7269\u5b66\u7814\u7a76\u7684\u6210\u5c31\uff1a\u674e\u749e\u5148\u751f50\u5e74\u4ee3\u5e08\u4ece\u6469\u5c14\u6839\u7684\u7b2c\u4e00\u4e2a\u4e2d\u56fd\u5f1f\u5b50\u9648\u6862\u5148\u751f\u4ece\u4e8b\u9c7c\u7c7b\u7684\u6027\u522b\u5206\u5316\u53ca\u63a7\u5236\u7814\u7a76\uff0c\u63d0\u51fa\u4e86\u9c7c\u7c7b\u6027\u522b\u5206\u5316\u7684\u65b0\u7684\u7406\u8bba\uff0c\u8fd8\u5728\u4e03\u9cc3\u9cd7\u7684\u7cfb\u7edf\u89e3\u5256\u5b66\u9886\u57df\u586b\u8865\u4e86\u6211\u56fd\u810a\u690e\u52a8\u7269\u5706\u53e3\u7c7b\u7814\u7a76\u7684\u7a7a\u767d\u3002<\/div>\n
2\uff09\u533b\u5b66\u9057\u4f20\u5b66\u7684\u7814\u7a76\u6210\u5c31\uff1a\u4ed61964\u5e74\u53d1\u8868\u7684\u201c\u4e2d\u56fd\u4eba\u82ef\u786b\u8132\u5c1d\u5473\u80fd\u529b\u7814\u7a76\u201d\u662f\u6211\u56fd\u5f00\u59cb\u8fdb\u884c\u533b\u5b66\u9057\u4f20\u5b66\u7814\u7a76\u7684\u6807\u5fd7\u6027\u4e8b\u4ef6\u30021965\u5e74\u62a5\u9053\u4e86\u6211\u56fd\u7b2c\u4e00\u4f8b\u201c46\uff0cXX\/47\uff0cXXY\u5d4c\u5408\u578b\u771f\u4e24\u6027\u7578\u5f62\u201d\uff0c\u8fd9\u662f\u5f53\u65f6\u56fd\u9645\u4e0a\u7b2c\u4e8c\u4e2a\u5f02\u6e90\u5d4c\u5408\u4f53\u75c5\u4f8b\uff0c\u5f00\u521b\u4e86\u6211\u56fd\u9057\u4f20\u54a8\u8be2\u548c\u7ec6\u80de\u9057\u4f20\u5b66\u7684\u7814\u7a76\u5de5\u4f5c\u3002\u4ed6\u9886\u5bfc\u7684\u56e2\u961f\u7a81\u7834\u4eba\u7c7b\u5b9e\u4f53\u7624\u67d3\u8272\u4f53\u5236\u5907\u6280\u672f\u7684\u74f6\u9888\uff0c\u5728\u56fd\u9645\u4e0a\u7cfb\u7edf\u6027\u7684\u53d1\u8868\u4e86\u8fd110\u79cd\u5e38\u89c1\u80bf\u7624\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u7b2c\u4e00\u624b\u6570\u636e\u3002\u53c2\u4e0e\u4e86\u4e2d\u56fd\u4eba\u7c7b\u57fa\u56e0\u7ec4\u8ba1\u5212\uff08CHGP\uff09\uff0c\u5efa\u7acb\u4e86\u4e2d\u56fd\u4eba\u7c7b\u9057\u4f20\u8d44\u6e90\u5e93\u2014\u54c8\u5c14\u6ee8\u5e93\u3002<\/div>\n
3\uff09\u533b\u5b66\u9057\u4f20\u5b66\u6559\u5b66\u53ca\u4eba\u624d\u57f9\u517b\u7684\u6210\u5c31\uff1a1977\u5e74\uff0c\u6211\u56fd\u9ad8\u7b49\u533b\u5b66\u9662\u6821\u6062\u590d\u4e86\u751f\u7269\u5b66\u8bfe\u7a0b\uff0c\u674e\u749e\u5148\u751f\u4e3b\u7f16\u4e86\u6211\u56fd\u7b2c\u4e00\u90e8\u5168\u56fd\u9ad8\u7b49\u533b\u5b66\u9662\u6821\u7edf\u7f16\u6559\u6750\u300a\u533b\u7528\u751f\u7269\u5b66\u300b\u30021978\u5e74\u7531\u536b\u751f\u90e8\u7275\u5934\uff0c\u7531\u674e\u749e\u5148\u751f\u9886\u5bfc\u9996\u6b21\u4e3b\u529e\u4e86\u201c\u7ec6\u80de\u751f\u7269\u5b66\u4e0e\u5206\u5b50\u9057\u4f20\u5b66\u8bb2\u4e60\u73ed\u201d\uff0c\u6b64\u540e\uff0c\u5148\u540e\u4e3b\u6301\u4e3e\u529e\u4e8610\u5c4a\u5168\u56fd\u201c\u533b\u5b66\u751f\u7269\u5b66\u548c\u533b\u5b66\u9057\u4f20\u5b66\u9ad8\u7ea7\u5e08\u8d44\u8fdb\u4fee\u73ed\u201d\uff0c\u4e3a\u6211\u56fd100\u4f59\u6240\u533b\u5b66\u9662\u6821\u57f9\u517b\u4e86200\u591a\u540d\u9057\u4f20\u5b66\u9ad8\u7ea7\u5e08\u8d44\u3002<\/div>\n
\u540c\u57281978\u5e74\uff0c\u4ed6\u4e3b\u7f16\u4e86\u300a\u56fd\u5916\u533b\u5b66\u00b7\u9057\u4f20\u5b66\u5206\u518c\u300b\uff082006\u5e74\u66f4\u540d\u4e3a\u300a\u56fd\u9645\u9057\u4f20\u5b66\u6742\u5fd7\u300b\uff09\uff0c\u8fd9\u662f\u6211\u56fd\u7b2c\u4e00\u672c\u4ecb\u7ecd\u56fd\u5916\u533b\u5b66\u9057\u4f20\u5b66\u65b0\u8fdb\u5c55\u7684\u520a\u7269\u3002\u4ed6\u57281979\u5e74\u4e3b\u7f16\u7684\u300a\u533b\u5b66\u9057\u4f20\u5b66\u7eb2\u8981\u300b\u662f\u6211\u56fd\u51fa\u7248\u7684\u7b2c\u4e00\u90e8\u533b\u5b66\u9057\u4f20\u5b66\u4e13\u8457\u3002\u5728\u6b64\u540e\u7684\u8fd120\u5e74\u671f\u95f4\uff081980-2010\uff09\uff0c\u674e\u749e\u6559\u6388\u8fd8\u4e3b\u7f16\u4e86\u56fd\u5bb6\u7ea7\u89c4\u5212\u6559\u6750\u300a\u533b\u5b66\u9057\u4f20\u5b66\u300b\u7b4913 \u90e8\u4e0e\u533b\u5b66\u9057\u4f20\u5b66\u6709\u5173\u7684\u4e13\u8457 \u3002<\/div>\n
\u00a0<\/div>\n
5\u3001\u4ece\u897f\u96c5\u56fe\u513f\u7ae5\u533b\u9662\u5230\u91d1\u57df\u533b\u5b66<\/div>\n\n
\n
\"eicZhoGYCfyZASibmT5tuhlfHqIZrYxnXuOo5iaAzU1po4mWf5ChvMR1TXSK52NvBSibQX3qrgZRxLkLz2AUSTKibow\"\/<\/figure><\/div>\n\n
\u56fe\uff0c\u897f\u96c5\u56fe\u9644\u8fd1\u7684 mountain rainier \uff0c\u6765\u81ea\u516c\u4f17\u53f7jadehe<\/div>\n
\u3010\u57fa\u56e0\u6167\u3011\u60a8\u975e\u5e38\u559c\u6b22\u65c5\u6e38\uff0c\u5728\u7f8e\u56fd\u671f\u95f4\u6e38\u5386\u8fc7\u6bcf\u4e00\u4e2a\u5dde\uff0c\u5176\u4e2d\u975e\u5e38\u559c\u6b22\u897f\u96c5\u56fe\uff0c\u897f\u96c5\u56fe\u4e5f\u5728\u751f\u7269\u4fe1\u606f\u3001\u57fa\u56e0\u79d1\u5b66\u3001\u8fdc\u7a0b\u533b\u7597\u65b9\u9762\u5904\u4e8e\u4e16\u754c\u9886\u5148\u5730\u4f4d\uff0c\u6700\u7ec8\u662f\u4ec0\u4e48\u56e0\u7d20\u4fc3\u4f7f\u60a8\u51b3\u5b9a\u56de\u56fd\u5462\uff1f<\/div>\n
\u3010\u4e8e\u4e16\u8f89\u6559\u6388\u3011\u6211\u6e38\u5386\u8fc7\u7f8e\u56fd\u7684\u6bcf\u4e00\u4e2a\u5dde\uff0c\u4e5f\u5728\u591a\u4e2a\u57ce\u5e02\u5c45\u4f4f\u8fc7\uff0c\u897f\u96c5\u56fe\u662f\u6211\u7684\u6700\u7231\uff0c\u6c14\u5019\u5b9c\u4eba\u3001\u98ce\u666f\u5982\u753b\u3001\u6559\u80b2\u53d1\u8fbe\u3001\u79d1\u6280\u5148\u8fdb\u3001\u7ecf\u6d4e\u7e41\u8363\u3001\u6587\u5316\u591a\u5143\u3002\u6211\u7684\u5bb6\u73b0\u5728\u4ecd\u7136\u5728\u897f\u96c5\u56fe\uff0c\u4e5f\u8ba1\u5212\u5c06\u6765\u9000\u4f11\u540e\u518d\u56de\u5230\u897f\u96c5\u56fe\u3002<\/div>\n
\u00a0<\/div>\n
\u52a0\u5165\u91d1\u57df\u6709\u591a\u4e2a\u56e0\u7d20\uff1a\u81ea\u4ece2011\u5e74\u5f00\u59cb\u6210\u4e3a\u91d1\u57df\u7684\u6d77\u5916\u533b\u5b66\u987e\u95ee\uff0c\u5bf9\u6881\u8000\u94ed\u8463\u4e8b\u957f\u53ca\u5176\u6240\u9886\u5bfc\u7684\u91d1\u57df\u96c6\u56e2\u6709\u4e86\u9010\u6b65\u6df1\u5165\u7684\u8ba4\u540c\u611f\uff0c\u4e5f\u66f4\u591a\u7684\u53c2\u4e0e\u5230\u91d1\u57df\u53d1\u5c55\u4e4b\u4e2d\u3002\u5728\u56fd\u5916\u768420\u591a\u5e74\uff0c\u5185\u5fc3\u4e00\u76f4\u6709\u4e00\u79cd\u613f\u671b\uff0c\u5e0c\u671b\u628a\u81ea\u5df1\u6240\u5b66\u7684\u9057\u4f20\u5b66\u77e5\u8bc6\u80fd\u4e3a\u4e2d\u56fd\u5728\u4e34\u5e8a\u7684\u5e94\u7528\u6709\u6240\u8d21\u732e\u3002<\/div>\n
\u56de\u56fd\u524d\u6211\u5df2\u62c5\u4efb\u897f\u96c5\u56fe\u513f\u7ae5\u533b\u9662\u7684\u5b9e\u9a8c\u5ba4\u4e3b\u4efb\u53ca\u534e\u76db\u987f\u5927\u5b66\u533b\u5b66\u9662\u7684\u6559\u6388\uff0c\u5728\u90a3\u91cc\u6709\u5e78\u7ed3\u8bc6\u4e86\u4f17\u591a\u7684\u9057\u4f20\u5b66\u9886\u57df\u7684\u6cf0\u6597\u7ea7\u4eba\u7269\uff0c\u5982Mary-Claire King\uff0cEvan E. Eichler\uff0c\u53caJay Shendure \u7b49\u7b49\u3002\u534e\u76db\u987f\u5927\u5b66\u7684\u6821\u56ed\u975e\u5e38\u6f02\u4eae\uff0c\u6bcf\u6b21\u884c\u8d70\u671f\u95f4\uff0c\u90fd\u6709\u4e00\u79cd\u8981\u91cd\u65b0\u8bfb\u5927\u5b66\u7684\u5e7b\u60f3\u3002\u4e5f\u4e3a\u81ea\u5df1\u80fd\u5728\u8fd9\u6837\u7684\u5b66\u5e9c\u4e2d\u4efb\u6559\uff0c\u611f\u5230\u975e\u5e38\u7684\u6b23\u6170\u3002<\/div>\n
\u7136\u800c\uff0c\u5bf9\u4e8e\u4e00\u4e2a\u50cf\u6211\u8fd9\u6837\u7684\u7f8e\u56fd\u79fb\u6c11\u800c\u8a00\uff0c\u5df2\u8fbe\u5230\u4e86\u4e8b\u4e1a\u7684\u5929\u82b1\u677f\uff0c\u5f88\u6e05\u695a\u672a\u676510\u5e74\u6216\u66f4\u957f\u7684\u65f6\u95f4\u81ea\u5df1\u5728\u5de5\u4f5c\u4e0a\u6240\u80fd\u505a\u7684\u4e8b\u60c5\u3002\u5c3d\u7ba1\u66fe\u6709\u653f\u5e9c\uff0c\u5927\u5b66\u53ca\u7814\u7a76\u673a\u6784\u529b\u9080\u6211\u56de\u56fd\u5de5\u4f5c\uff0c\u4f46\u6211\u8ba4\u4e3a\u91d1\u57df\u5bf9\u4e8e\u6211\u624d\u662f\u5b66\u80fd\u6240\u7528\u7684\u5b8c\u7f8e\u5e73\u53f0\uff0c\u8fd9\u4e2a\u5e73\u53f0\u8981\u5927\u7684\u591a\uff0c\u6709\u65e0\u9650\u65bd\u5c55\u7684\u7a7a\u95f4\u3002<\/div>\n
\u00a0<\/div>\n
6\u3001\u6784\u5efa\u4e2d\u56fd\u4eba\u5355\u57fa\u56e0\u9057\u4f20\u75c5\u57fa\u56e0\u7ec4\u6570\u636e\u5e93<\/div>\n
\u3010\u57fa\u56e0\u6167\u3011\u60a8\u5e26\u9886\u91d1\u57df\u56e2\u961f\u81f4\u529b\u4e8e\u642d\u5efa\u4e2d\u56fd\u4eba\u7684\u5355\u57fa\u56e0\u9057\u4f20\u75c5\u57fa\u56e0\u7ec4\u6570\u636e\u5e93\uff0c\u76ee\u524d\u6709\u54ea\u4e9b\u8fdb\u5c55\u548c\u9636\u6bb5\u6027\u6210\u679c\u5462\uff1f<\/div>\n
\u3010\u4e8e\u4e16\u8f89\u6559\u6388\u3011\u91d1\u57df\u4e34\u5e8a\u57fa\u56e0\u7ec4\u4e2d\u5fc3\u53ca\u4e34\u5e8a\u751f\u5316\u8bca\u65ad\u4e2d\u5fc3\u5df2\u79ef\u7d2f\u4e86\u5927\u91cf\u7684\u6709\u5173\u5355\u57fa\u56e0\u75c5\u7684\u6570\u636e\u5e93\uff0c \u8fd1\u5e74\u53c8\u5f97\u5230\u4e86\u653f\u5e9c\u7684\u652f\u6301\u3002\u6bd4\u5982\u8bf4\uff0c\u9488\u5bf9\u4e34\u5e8a\u7591\u4f3c\u7684\u9057\u4f20\u75c5\uff0c\u91d1\u57df\u57fa\u56e0\u7ec4\u4e2d\u5fc3\u5df2\u5b8c\u6210\u8d85\u8fc7\u8fd110\u4e07\u4f8b\u5355\u57fa\u56e0\u75c5\u7684\u68c0\u6d4b\uff0c\u5176\u4e2d\u4e24\u4e07\u591a\u4f8b\u662f\u91c7\u7528\u533b\u5b66\u5916\u663e\u5b50\u7ec4\u3001\u5916\u663e\u5b50\u7ec4\u6216\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u5b8c\u6210\u7684\uff0c\u75c5\u7406\u53d8\u5f02\uff08pathogenic variants\uff09\u53ca\u53ef\u80fd\u75c5\u7406\u53d8\u5f02\uff08likely pathogenic variants\uff09\u7684\u68c0\u51fa\u7387\u8fbe\u523037%\u5de6\u53f3\u3002\u6211\u4eec\u6838\u578b\u5206\u6790\u7684\u75c5\u4f8b\u6570\u5df2\u7d2f\u8ba1\u8d85\u8fc7\u767e\u4e07\u4f8b\uff0c2017\u5e74\u5c31\u5b8c\u6210\u4e8622\u4e07\u4f8b\u7684\u6838\u578b\u5206\u6790\u3002\u6211\u4eec\u8fd8\u6709\u6570\u4e07\u4f8b\u57fa\u56e0\u82af\u7247\u7684\u4e34\u5e8a\u7684\u68c0\u6d4b\u7ed3\u679c\u3002\u8272\u8c31\u8d28\u8c31\u53ca\u9176\u5b66\u65b9\u6cd5\u68c0\u51fa\u7684\u9057\u4f20\u4ee3\u8c22\u75c5\u7684\u9633\u6027\u6807\u672c\u6570\u591a\u8fbe6000\u4f59\u4f8b\u3002\u5728\u76ee\u524d\u56fd\u5bb6\u6216\u884c\u4e1a\u534f\u4f1a\u5c1a\u65e0\u6cd5\u5efa\u7acb\u4e2d\u56fd\u4eba\u7684\u9057\u4f20\u6570\u636e\u5e93\u7684\u60c5\u51b5\u4e0b\uff0c\u6211\u4eec\u6b63\u52aa\u529b\u5728\u75c5\u4eba\u77e5\u60c5\u53ca\u4fdd\u62a4\u9690\u79c1\u7684\u524d\u63d0\u4e0b\uff0c\u9010\u6b65\u5f00\u653e\u548c\u53d1\u8868\u6211\u4eec\u7684\u6570\u636e\uff0c\u4e5f\u6b22\u8fce\u6709\u5174\u8da3\u7684\u4e34\u5e8a\u4e13\u5bb6\u548c\u6211\u4eec\u4e00\u8d77\u6316\u6398\u3002<\/div>\n
\u00a0<\/div>\n
\u3010\u57fa\u56e0\u6167\u3011\u7f8e\u56fd\u904f\u5236\u4e2d\u56fd\u5728\u7f8e\u6295\u8d44\u548c\u6536\u8d2d\u5148\u8fdb\u5236\u9020\u4e1a\u3001\u57fa\u56e0\u79d1\u6280\u9886\u57df\u7b49\uff0c\u60a8\u5982\u4f55\u770b\u5f85\u6211\u56fd\u57fa\u56e0\u79d1\u6280\u9886\u57df\u7684\u81ea\u4e3b\u521b\u65b0\u73b0\u72b6\u5462\uff1f<\/div>\n
\u3010\u4e8e\u4e16\u8f89\u6559\u6388\u3011\u57fa\u56e0\u79d1\u6280\u9886\u57df\u662f\u4e00\u4e2a\u5168\u4ea7\u4e1a\u94fe\uff0c\u4ece\u4eea\u5668\u53ca\u8bd5\u5242\u3001\u68c0\u6d4b\u9879\u76ee\u53ca\u8f6f\u4ef6\u5f00\u53d1\uff0c\u6211\u4eec\u56fd\u5185\u7684\u4f01\u4e1a\u53ef\u4ee5\u5728\u8fd9\u4e48\u591a\u5e74\u8d76\u8ffd\u7684\u57fa\u7840\u4e0a\uff0c\u8fdb\u884c\u6539\u8fdb\u548c\u5b8c\u5584\u3002\u4f46\u771f\u6b63\u80fd\u505a\u5230\u81ea\u4e3b\u521b\u65b0\uff0c\u8fd8\u9700\u8981\u5f88\u957f\u4e00\u6bb5\u8ddd\u79bb\uff0c\u6211\u5f88\u671f\u5f85\u56fd\u5185\u4e0d\u5c11\u540c\u9053\u5728\u8fd9\u65b9\u9762\u505a\u51fa\u52aa\u529b\u540e\u7684\u6210\u679c\u3002<\/div>\n
\u00a0<\/div>\n
\u4ee5\u4e0a\u4fe1\u606f\u4ec5\u4ee3\u8868\u91c7\u8bbf\u5609\u5bbe\u89c2\u70b9<\/div>\n
\u6b22\u8fce\u4ea7\u5b66\u7814\u533b\u8d44\u653f\u4ee3\u8868\u53c2\u4e0e\u300a\u5927\u5496\u8bba\u5065\u300b<\/div>\n
info@genonet.cn\uff0c400-088-7466<\/div>\n
\u8bb0\u8005\/\u7f16\u8005\uff1aCandice<\/div>\n
\u6821\u5bf9\uff1aEric<\/div>\n
\u5ba1\u6838\uff1aMark<\/div>\n
\u00a0<\/div>\n
\u3010\u62db\u52df\u3011\u57fa\u56e0\u6167\u73b0\u9762\u5411\u5e7f\u5927\u8bfb\u8005\u62db\u52df\u6709\u507f\u65b0\u5a92\u4f53\u7f16\u8f91\u3001\u517c\u804c\u4e13\u680f\u4f5c\u8005\u3001\u884c\u4e1a\u5206\u6790\u5e08\uff0c\u8bf7\u611f\u5174\u8da3\u7684\u8bfb\u8005\u5c06\u7b80\u5386\u53d1\u9001\u81f3\uff1ainfo@genonet.cn\u3002<\/div>\n
\u00a0<\/div>\n
\u63a8\u8350\u9605\u8bfb<\/div>\n
\u57fa\u56e0\u79d1\u6280\u5982\u4f55\u843d\u5730\u4e34\u5e8a\uff1f\u6211\u4eec\u91c7\u8bbf\u4e8627\u4f4d\u4e34\u5e8a\u5927\u5496<\/a><\/div>\n
\u9ec4\u5c1a\u5fd7\u6559\u6388\uff1a\u9057\u4f20\u68c0\u6d4b\u8fdb\u5165\u9ad8\u901f\u8def\u540e\u7684\u559c\u4e0e\u5fe7<\/a><\/div>\n
\u57fa\u56e0\u6d4b\u5e8f\u6280\u672f\u4ea7\u4e1a\u5316\u5341\u5e74\u7b80\u62a5<\/a><\/div>\n
32\u5bb6\u57fa\u56e0\u4f01\u4e1a\u5171\u5546\u884c\u4e1a\u8054\u76df\u548c\u89c4\u8303<\/a><\/div>\n
\u25bc\u9996\u4e2a\u6570\u5b57\u751f\u547d\u5065\u5eb7\u4ea7\u4e1a\u5927\u6570\u636e\u5e73\u53f0<\/div>\n
\uff08\u626b\u7801\u67e5\u770b\uff09<\/div>\n\n
\n
\"RmFicvQBAkgATE5cx5KQ2Hqt2UOyia2TUMmA3zzgXV1IibhVxcGa9Tm2Y5qh6iapwicNjibC8C2bo0s1bK0picF99D0QQ\"\/<\/figure><\/div>\n\n<\/div>\n
<\/div>\n
<\/div>\n
\u5173\u4e8e\u57fa\u56e0\u6167<\/div>\n
GeneClub<\/div>\n
\u57fa\u56e0\u6167\u662f\u6570\u5b57\u751f\u547d\u5065\u5eb7\u9886\u57df\u4e13\u4e1a\u7684\u79d1\u6280\u5a92\u4f53\u548c\u54a8\u8be2\u673a\u6784\u3002\u57fa\u4e8e\u6df1\u8015\u5341\u5e74\u7684\u4e13\u4e1a\u6027\uff0c\u6211\u4eec\u81f4\u529b\u4e8e\u5efa\u7acb\u884c\u4e1a\u4fe1\u7528\u8bc4\u7ea7\u548c\u51b3\u7b56\u54a8\u8be2\u7684\u5927\u6570\u636e\u5e73\u53f0\uff0c\u4e3a\u533b\u7597\u5065\u5eb7\u7b49\u673a\u6784\u63d0\u4f9b\u79d1\u666e\u5ba3\u4f20\u3001\u884c\u7814\u54a8\u8be2\u548c\u4ea7\u4e1a\u94fe\u63a5\u670d\u52a1\uff0c\u8d4b\u80fd\u4ea7\u5b66\u653f\u7684\u878d\u5408\uff0c\u4f7f\u8fde\u63a5\u4ea7\u751f\u4ef7\u503c\uff0c\u7528\u6570\u636e\u51b3\u7b56\u672a\u6765\u3002<\/div>\n
<\/div>\n
\u57fa\u56e0\u6167\u4f5c\u4e3a\u201c\u5341\u4e09\u4e94\u201d\u91cd\u70b9\u56fe\u4e66\u300a\u4e34\u5e8a\u751f\u7269\u6837\u672c\u5e93\u7684\u63a2\u7d22\u4e0e\u5b9e\u8df5\u300b\u7f16\u59d4\u5355\u4f4d\uff0c\u5e7f\u4e1c\u7701\u7cbe\u51c6\u533b\u5b66\u5b66\u4f1a\u9057\u4f20\u75c5\u5206\u4f1a\u5e38\u59d4\u5355\u4f4d\u3001\u6df1\u5733\u5e02\u5065\u5eb7\u4ea7\u4e1a\u53d1\u5c55\u4fc3\u8fdb\u4f1a\u526f\u4f1a\u957f\u5355\u4f4d\uff0c\u5728\u884c\u4e1a\u5927\u4f1a\u4e0a\u53d1\u5e03\u4e86\u300a2018\u5e74\u57fa\u56e0\u884c\u4e1a\u521b\u6295\u62a5\u544a\u300b\u7b49\u6570\u4e2a\u62a5\u544a\uff08\u8be6\u60c5<\/a>\uff09\uff0c\u53c2\u4e0e\u7ec4\u7ec7\u9996\u4e2a\u300a\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\u62a5\u544a\u89c4\u8303\u4e0e\u57fa\u56e0\u68c0\u6d4b\u884c\u4e1a\u5171\u8bc6\u300b\u843d\u5730\uff08\u8be6\u60c5<\/a>\uff09\uff0c\u4e3b\u529e\u4e86\u9996\u5c4a\u6570\u5b57\u5065\u5eb7\u79c1\u8463\u4f1a\uff08\u8be6\u60c5<\/a>\uff09\uff0c\u4e3a\u653f\u5e9c\u548c\u4ea7\u4e1a\u51b3\u7b56\u8005\u63d0\u4f9b\u884c\u4e1a\u54a8\u8be2\u548c\u5e02\u573a\u8c03\u7814\u670d\u52a1\u3002<\/div>\n
<\/div>\n
<\/div>\n
<\/div>\n
\n\n
\n
\"RmFicvQBAkgARAxOYCIZZU5x7thFZD30NplPWNIRQIwHXEyEnYnCG8lq70UINNglNWWjGrRXibHD992FlLoXZHAg\"\/<\/figure><\/div>\n\n<\/div>","protected":false},"excerpt":{"rendered":"

\u8d70\u51fa\u4e00\u6761\u4e2d\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u57f9\u517b\u4e4b\u8def<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[10],"tags":[1505],"class_list":["post-11554","post","type-post","status-publish","format-standard","hentry","category-thinktank","tag-1505"],"_links":{"self":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/11554","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=11554"}],"version-history":[{"count":2,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/11554\/revisions"}],"predecessor-version":[{"id":14184,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/11554\/revisions\/14184"}],"wp:attachment":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/media?parent=11554"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/categories?post=11554"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/tags?post=11554"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}