{"id":9133,"date":"2020-03-15T21:37:09","date_gmt":"2020-03-15T13:37:09","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&mid=100012931&idx=1&sn=4c37901eebe024ff5c10f918760572b6&chksm=6b7141345c06c822ae1c31064412c0cb233088886af7ada378d57c0613094056a5646b1a85c4#rd"},"modified":"2026-04-02T10:26:01","modified_gmt":"2026-04-02T02:26:01","slug":"9910199","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2020\/03\/15\/9910199\/","title":{"rendered":"\u884c\u4e1a\u5171\u8bc6\u7cfb\u5217\uff08\u4e00\uff09 | NGS\u4e34\u5e8a\u9057\u4f20\u75c5\u57fa\u56e0\u68c0\u6d4b\u524d\u7684\u89c4\u8303\u6d41\u7a0b"},"content":{"rendered":"
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\"RmFicvQBAkgC5tMD8FqE3BusSMB8iafgXtpibczXUmT2EotuciaqQNFLKiaDMicuclSSPKufkAYJ4nj1UKpPBEs2J7uw\"\/<\/figure><\/div>\n\n
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\u6587\u7ae0\/\u57fa\u56e0\u6167\uff08\u516c\u4f17\u53f7\uff1aGeneClub-1)<\/div>\n
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\n
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\n\n
\n
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\n\n
\n
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\u00a0\u00a0\u00a0\u00a01.2 \u4e34\u5e8a\u62df\u8bca<\/p>\n

\u00a0\u00a0\u00a0\u00a0\u5728\u4e34\u5e8a\u4e0a\u6709\u6548\u8bc6\u522b\u9057\u4f20\u6027\u75be\u75c5\uff0c\u80fd\u591f\u63d0\u9ad8\u4e8c\u4ee3\u6d4b\u5e8f\u68c0\u6d4b\u7684\u8bca\u65ad\u7387\uff0c\u4ece\u800c\u95f4\u63a5\u964d\u4f4e\u533b\u7597\u6210\u672c\uff0c\u63d0\u9ad8\u4e34\u5e8a\u8bca\u6cbb\u7684\u6548\u7387\u3002\u4e34\u5e8a\u533b\u5e08\u9700\u8981\u5bf9\u5148\u8bc1\u8005\u7684\u75c5\u53f2\u3001\u5bb6\u65cf\u53f2\u3001\u6bcd\u5b55\u53f2\u7b49\u6709\u5168\u9762\u7684\u4e86\u89e3\u3002\u4e34\u5e8a\u62df\u8bca\u75be\u75c5\u548c\u63d0\u793a\u9ad8\u5ea6\u6000\u7591\u7684\u75be\u75c5\u53ca\u57fa\u56e0\u53ef\u4e3a\u540e\u7eed\u62df\u5b9a\u57fa\u56e0\u68c0\u6d4b\u65b9\u6848\u63d0\u4f9b\u7ebf\u7d22\uff0c\u4e5f\u662f\u68c0\u6d4b\u7ed3\u679c\u89e3\u8bfb\u7684\u91cd\u8981\u5173\u6ce8\u70b9\u3002<\/p>\n

\u00a0\u00a0\u00a0\u00a01.3\u00a0\u62df\u5b9a\u68c0\u6d4b\u65b9\u6848<\/div>\n
\u00a0\u00a0\u00a0\u00a0\u62df\u5b9a\u68c0\u6d4b\u65b9\u6848\u7684\u539f\u5219\uff1a\u9700\u8981\u4e0e\u5177\u6709\u4e30\u5bcc\u5b9e\u8df5\u7ecf\u9a8c\u7684\u4e13\u4e1a\u533b\u5e08\u5408\u4f5c\u3002<\/div>\n
\u00a0\u00a0\u00a0\u00a0\u5177\u5907\u9057\u4f20\u5b66\u6216\u9057\u4f20\u54a8\u8be2\u80cc\u666f\u7684\u4e34\u5e8a\u533b\u5e08\u53ef\u5bf9\u53d7\u68c0\u8005\u7684\u75c7\u72b6\u53ca\u62df\u8bca\u75be\u75c5\u8fdb\u884c\u5206\u6790\uff0c\u786e\u5b9a\u9002\u5408\u7684\u68c0\u6d4b\u7b56\u7565\u3002\u9057\u4f20\u77e5\u8bc6\u80cc\u666f\u6b20\u4f73\u7684\u4e34\u5e8a\u533b\u5e08\uff0c\u5219\u5efa\u8bae\u4e0e\u5177\u6709\u4e30\u5bcc\u7ecf\u9a8c\u7684\u4e13\u4e1a\u533b\u5e08\u3001\u9057\u4f20\u54a8\u8be2\u5e08\u5408\u4f5c\u6216\u54a8\u8be2\u7b2c\u4e09\u65b9\u68c0\u6d4b\u673a\u6784\uff0c\u63a2\u8ba8\u786e\u5b9a\u9002\u5b9c\u7684\u68c0\u6d4b\u7b56\u7565\u3002<\/div>\n
\u00a0\u00a0\u00a0\u00a0\u5177\u6709\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u4e0d\u826f\u5b55\u4ea7\u53f2\u8005\u9700\u5148\u8fdb\u884c\u67d3\u8272\u4f53\u6838\u578b\u5206\u6790\uff0c\u5bf9\u4e8e\u5e76\u975e\u4ee5\u70b9\u7a81\u53d8\u4e3a\u4e3b\u7684\u5355\u57fa\u56e0\u75c5\uff0c\u4f8b\u5982\u52a8\u6001\u7a81\u53d8\u3001\u5012\u4f4d\u7a81\u53d8\u3001\u5fae\u7f3a\u5931\/\u91cd\u590d\u7a81\u53d8\u3001\u7532\u57fa\u5316\u5f02\u5e38\u3001\u5177\u6709\u5047\u57fa\u56e0\u5e72\u6270\u7684\u75be\u75c5\u7b49\uff0c\u5efa\u8bae\u5148\u8fdb\u884c\u4e13\u6709\u7684\u68c0\u6d4b\uff0c\u7136\u540e\u518d\u5bf9\u7ed3\u679c\u4e3a\u9634\u6027\u7684\u75c5\u4f8b\u8fdb\u884c\u4e8c\u4ee3\u6d4b\u5e8f\u3002<\/div>\n
\u00a0<\/div>\n
\u00a0\u00a0\u00a0\u00a0\u5e38\u7528\u7684\u975e\u4e8c\u4ee3\u6d4b\u5e8f\u68c0\u6d4b\u6280\u672f\u5305\u62ec\uff1a<\/div>\n
\uff081\uff09\u62f7\u8d1d\u6570\u68c0\u6d4b\uff1a\u591a\u91cd\u8fde\u63a5\u63a2\u9488\u6269\u589e\uff08multiplex ligation-dependent probe amplification\uff0cMLPA\uff09\u3001\u8367\u5149\u5b9a\u91cfPCR\uff08flurogenic quantitative PCR\uff09\u3001\u5b9e\u65f6\u5b9a\u91cfPCR\u3001\u6570\u5b57PCR\u3001\u4f4e\u6df1\u5ea6\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\uff08low coverage massively parallel sequencing\uff0cCNV-seq\uff09\uff1b<\/div>\n
\uff082\uff09\u6bdb\u7ec6\u7ba1\u7535\u6cf3\u7247\u6bb5\u5206\u6790\uff1a\u52a8\u6001\u7a81\u53d8\uff1b<\/div>\n
\uff083\uff09\u8de8\u8d8a\u65ad\u88c2\u70b9PCR\uff08Gap-PCR\uff09\uff1a\u8840\u53cb\u75c5F8\u57fa\u56e0\u5012\u4f4d\u3001\u03b1\u5730\u8d2b\u68c0\u6d4b\uff1b<\/div>\n
\uff084\uff09\u7532\u57fa\u5316\u68c0\u6d4b\uff1aDNA\u7532\u57fa\u5316\u5f02\u5e38\u53ca\u5370\u8bb0\u57fa\u56e0\uff0c\u4f8b\u5982Prader-Willi\/Angelman\u7efc\u5408\u5f81\u3001Silver-Russell\u7efc\u5408\u5f81\uff1b<\/div>\n
\uff085\uff09\u975e\u7f16\u7801RNA\uff1a\u4e3b\u8981\u5305\u62ecmiRNA\u3001lncRNA\u548cCircle RNA\uff0cRNA\u6d4b\u5e8f\u3001\u8f6c\u5f55\u7ec4\u82af\u7247\uff1b<\/div>\n
\uff086\uff09\u57fa\u4e8e\u957f\u7247\u6bb5PCR\u7684Sanger\u6d4b\u5e8f\uff1a\u5047\u57fa\u56e0\u6216\u5b58\u5728\u8f83\u591a\u540c\u6e90\u5e8f\u5217\u7684\u57fa\u56e0\u3002<\/div>\n
\u00a0<\/div>\n
\u300a\u9057\u4f20\u68c0\u6d4b\u524d\u6d41\u7a0b\u300b\uff082\uff09\uff1a\u59d4\u6258\u9057\u4f20\u68c0\u6d4b<\/div>\n\n
\n
\"RmFicvQBAkgCibcicBHChmiaMB3ITCqVibclTBs5VMktcUwtwgbmukJ5oZwWzdfHibHPAtyULYtjFm3RdDIyTyWUHWTQ\"\/<\/figure><\/div>\n\n
\u793a\u610f\u56fe\uff08\u6765\u6e90\/\u6444\u56fe\u7f51\u6388\u6743\uff09<\/div>\n
\u00a0\u00a0\u00a02.1 \u68c0\u6d4b\u524d\u9057\u4f20\u54a8\u8be2<\/div>\n
\u00a0\u00a0\u00a0\u00a0\u82e5\u53d7\u68c0\u8005\u9009\u62e9\u8fdb\u884c\u57fa\u56e0\u68c0\u6d4b\uff0c\u5219\u5e94\u5728\u9001\u68c0\u533b\u5e08\u7684\u6307\u5bfc\u4e0b\uff0c\u7531\u533b\u5e08\u6216\u5b9e\u9a8c\u5ba4\u56e2\u961f\u7684\u9057\u4f20\u54a8\u8be2\u5e08\u4e3a\u53d7\u68c0\u8005\u63d0\u4f9b\u68c0\u6d4b\u524d\u9057\u4f20\u54a8\u8be2\uff0c\u4f7f\u53d7\u68c0\u8005\u5145\u5206\u7406\u89e3\u57fa\u56e0\u68c0\u6d4b\u7684\u610f\u4e49\u4ee5\u53ca\u6240\u7528\u65b9\u6cd5\u7684\u5c40\u9650\u6027\u3002<\/div>\n
\u00a0\u00a0\u00a0\u00a0\u68c0\u6d4b\u524d\u9057\u4f20\u54a8\u8be2\u4e3b\u8981\u6d89\u53ca\u4ee5\u4e0b\u65b9\u9762\uff1a<\/div>\n
\uff081\uff09\u00a0\u660e\u786e\u54a8\u8be2\u5bf9\u8c61\u7684\u9700\u6c42\u548c\u76ee\u7684\uff1b<\/div>\n
\uff082\uff09\u6536\u96c6\u8bc4\u4f30\u4e2a\u4eba\u53f2\u548c\u5bb6\u65cf\u53f2\uff0c\u5fc5\u8981\u65f6\u7ed8\u5236\u7cfb\u8c31\u56fe\uff0c\u5224\u65ad\u53ef\u80fd\u5c5e\u4e8e\u9057\u4f20\u75c5\u6216\u590d\u6742\u75be\u75c5\u7684\u65b9\u5411\uff0c\u4e3a\u540e\u7eed\u5236\u5b9a\u9057\u4f20\u75c5\u76f8\u5173\u7684\u68c0\u6d4b\u65b9\u6848\u63d0\u4f9b\u53c2\u8003\uff1b<\/div>\n
\uff083\uff09\u4ecb\u7ecd\u53ef\u4f9b\u9009\u62e9\u7684\u68c0\u6d4b\u9879\u76ee\u53ca\u6837\u672c\u7c7b\u578b\u3001\u5bb6\u65cf\u6210\u5458\u4e2d\u68c0\u6d4b\u5bf9\u8c61\u9009\u62e9\u7684\u4f18\u5148\u987a\u5e8f\uff0c\u544a\u77e5\u5176\u68c0\u6d4b\u7684\u76ee\u7684\u3001\u8303\u56f4\u3001\u5185\u5bb9\u3001\u539f\u7406\u3001\u6d41\u7a0b\u3001\u5468\u671f\u53ca\u610f\u4e49\u3001\u4f18\u52bf\u548c\u5c40\u9650\u6027\uff1b\u6709\u591a\u4e2a\u68c0\u6d4b\u9879\u76ee\u9009\u62e9\u6216\u591a\u79cd\u68c0\u6d4b\u6280\u672f\u65f6\uff0c\u9700\u544a\u77e5\u6e05\u695a\u5404\u68c0\u6d4b\u9879\u76ee\u548c\u6280\u672f\u7684\u4f18\u52bf\u548c\u5c40\u9650\u6027\uff0c\u8ba9\u53d7\u68c0\u8005\u6839\u636e\u9700\u8981\u548c\u4e2a\u4eba\u610f\u613f\u505a\u51fa\u9009\u62e9\uff0c\u5e76\u5bf9\u54a8\u8be2\u5bf9\u8c61\u5728\u9057\u4f20\u54a8\u8be2\u8fc7\u7a0b\u4e2d\u63d0\u51fa\u7684\u7591\u95ee\u4e00\u4e00\u4f5c\u51fa\u89e3\u7b54\uff1b<\/div>\n
\uff084\uff09\u544a\u77e5\u6b21\u8981\u548c\u610f\u5916\u53d1\u73b0\u7684\u9009\u62e9\u77e5\u6653\u6743\uff0c\u89e3\u91ca\u5176\u5b9a\u4e49\u548c\u4e34\u5e8a\u610f\u4e49\uff0c\u534f\u52a9\u54a8\u8be2\u5bf9\u8c61\u6839\u636e\u4e2a\u4eba\u610f\u613f\u505a\u51fa\u68c0\u6d4b\u524d\u9009\u62e9\uff1b<\/div>\n
\uff085\uff09\u544a\u77e5\u9884\u671f\u7684\u68c0\u6d4b\u7ed3\u679c\u53ca\u5176\u610f\u4e49\uff0c\u5982\u9633\u6027\u3001\u9634\u6027\u3001\u4e0d\u786e\u5b9a\u7684\uff08\u5982\u4e34\u5e8a\u610f\u4e49\u672a\u660e\uff09\u7ed3\u679c\u3002\u89e3\u7b54\u6709\u5173\u68c0\u6d4b\u7ed3\u679c\u53ef\u9760\u6027\u3001\u6b8b\u4f59\u98ce\u9669\u53ca\u68c0\u6d4b\u5bf9\u53d7\u68c0\u8005\u7684\u76ca\u5904\uff0c\u5982\u751f\u80b2\u6307\u5bfc\u3001\u9884\u9632\u6307\u5bfc\u53ca\u6cbb\u7597\u7b49\u95ee\u9898[3]\uff1b<\/div>\n
\uff086\uff09\u544a\u77e5\u68c0\u6d4b\u53ef\u80fd\u6ca1\u6709\u7ed3\u679c\uff0c\u9700\u8981\u540e\u7eed\u5176\u4ed6\u68c0\u6d4b\u9879\u76ee\u6216\u5bf9\u6570\u636e\u8fdb\u884c\u518d\u5206\u6790\u7684\u53ef\u80fd\u3002<\/div>\n
\u00a0<\/div>\n
\u00a0\u00a0\u00a0\u00a02.2 \u7b7e\u7f72\u9057\u4f20\u68c0\u6d4b\u77e5\u60c5\u540c\u610f\u4e66<\/div>\n
\u00a0 \u00a0\u65e0\u8bba\u5728\u533b\u9662\u672c\u8eab\u7684\u4e34\u5e8a\u9057\u4f20\u5b9e\u9a8c\u5ba4\u8fd8\u662f\u9001\u7b2c\u4e09\u65b9\u673a\u6784\u8fdb\u884c\u68c0\u6d4b\uff0c\u5728\u6837\u672c\u91c7\u96c6\u524d\u5747\u9700\u8981\u6307\u5bfc\u53d7\u68c0\u8005\/\u53d7\u68c0\u8005\u4eb2\u5c5e\u7b7e\u7f72\u77e5\u60c5\u540c\u610f\u548c\u9001\u68c0\u5355\u3002<\/div>\n
\u00a0\u00a0\u00a0\u00a0\u77e5\u60c5\u540c\u610f\u4e66\u662f\u53d7\u68c0\u8005\u5728\u9001\u68c0\u533b\u5e08\u7684\u6307\u5bfc\u4e0b\u540c\u9057\u4f20\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u6216\u57fa\u56e0\u68c0\u6d4b\u673a\u6784\u7b7e\u7f72\u7684\u3002\u7531\u533b\u5e08\u6216\u9057\u4f20\u54a8\u8be2\u5e08\u5411\u60a3\u8005\u89e3\u91ca\u77e5\u60c5\u540c\u610f\u4e66\u4e2d\u7684\u5185\u5bb9\uff0c\u7ed9\u4e88\u53d7\u68c0\u8005\u5145\u8db3\u7684\u65f6\u95f4\u8ba4\u771f\u9605\u8bfb\u77e5\u60c5\u540c\u610f\u4e66\u5e76\u89e3\u7b54\u76f8\u5173\u7591\u95ee\uff0c\u6700\u540e\u7531\u53d7\u68c0\u8005\u7b7e\u5b57\u786e\u8ba4\u8868\u793a\u7406\u89e3\uff08\u5173\u952e\u5185\u5bb9\u53ef\u80fd\u9700\u8981\u59d4\u6258\u4eba\u4eb2\u7b14\u6284\u5199\uff09\u3002<\/div>\n
\u00a0\u00a0\u00a0\u00a0\u5728\u6570\u636e\u5165\u53e3\u73af\u8282\uff0c\u5145\u5206\u7684\u77e5\u60c5\u540c\u610f\u975e\u5e38\u91cd\u8981\u3002\u57fa\u56e0\u68c0\u6d4b\u7684\u77e5\u60c5\u540c\u610f\u4e66\u627f\u8f7d\u4e86\u975e\u5e38\u591a\u7684\u529f\u80fd\uff0c\u5b83\u662f\u4e00\u4e2a\u77e5\u60c5\u540c\u610f\u7684\u51ed\u8bc1\u4ee5\u53ca\u6570\u636e\u6388\u6743\u7684\u5165\u53e3\u3002<\/div>\n
\u00a0\u201c\u77e5\u60c5\u544a\u77e5\u201d\u90e8\u5206\u5e94\u5305\u542b\u4ee5\u4e0b\u8981\u7d20\u548c\u7ec6\u8282\uff1a<\/div>\n
\uff081\uff09\u00a0\u68c0\u6d4b\u9879\u76ee\u7684\u6982\u51b5<\/div>\n
\uff082\uff09\u00a0\u68c0\u6d4b\u7684\u5c40\u9650\u6027<\/div>\n
\uff083\uff09\u00a0\u4ee5\u53d7\u68c0\u8005\u4e3a\u4e2d\u5fc3\u7684\u98ce\u9669\u8003\u91cf<\/div>\n
\uff084\uff09\u00a0\u68c0\u6d4b\u7ed3\u679c\u4e0e\u62a5\u544a<\/div>\n
\uff085\uff09\u00a0\u610f\u5916\u53d1\u73b0\u7684\u201c\u4e0d\u77e5\u6743\u201d<\/div>\n
\uff086\uff09\u00a0\u4e34\u5e8a\u4fe1\u606f\u7684\u4e8c\u6b21\u91c7\u96c6<\/div>\n
\uff087\uff09 \u5176\u4ed6<\/div>\n
(\u8be6\u7ec6\u5185\u5bb9\u8bf7\u53c2\u9605\u300a\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7\u300b2020\u5e743\u6708\u7b2c37\u5377\u7b2c3\u671f)<\/div>\n

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