{"id":11673,"date":"2016-12-02T08:15:55","date_gmt":"2016-12-02T00:15:55","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzIzMzE4MzU3NA==&mid=504148246&idx=1&sn=a25913d534b17c6686e5c6ba5f9c3681&chksm=7371912f440618397854668ee829b6826c6e01d122c2a168744ecc83664352c830d3547f5139#rd"},"modified":"2026-04-03T11:55:11","modified_gmt":"2026-04-03T03:55:11","slug":"535754-2","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2016\/12\/02\/535754-2\/","title":{"rendered":"\u6df1\u5733\u81ea\u95ed\u75c7\u7814\u7a76\u6240\u6240\u957f\u738b\u660e\u5e2e\uff1a\u81ea\u95ed\u75c7\u9057\u4f20\u57fa\u56e0\u53ca\u6cbb\u7597"},"content":{"rendered":"

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\"eicZhoGYCfya8d9amvCQUkI0swluE5cc4aG2icPmTGzUl3kEO47YOwcHWGRriboGhvLRFUXUYYOOicTBUNibHD5ialoQ\"\/<\/figure><\/div>\n\n
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\"eicZhoGYCfyYsMFLlcPDEJ8ryArBHQVwzN5oG5abHia4pgrCBWnke0t7UafmSYib9kNBPmYLPuQPgAY4niaSczNmMw\"\/<\/figure><\/div>\n\n
\u56fe1 \u6765\u81ea\u7f51\u7edc<\/div>\n
01\u00a0\u81ea\u95ed\u75c7\u6709\u5f88\u5f3a\u7684\u9057\u4f20\u80cc\u666f\uff0c\u4e3b\u8981\u6709\u4ee5\u4e0b\u516d\u4e2a\u65b9\u9762\u7684\u539f\u56e0\uff1a<\/div>\n
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3\u3001\u7537\u5973\u60a3\u8005\u6bd4\u4f8b\u663e\u8457\u504f\u79bb1:1\uff0c\u4e3a4:1<\/div>\n
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6\u3001\u5df2\u53d1\u73b0\u5927\u91cf\u81ea\u95ed\u75c7\u4e34\u5e8a\u76f8\u5173\u7a81\u53d8\uff0c\u5305\u62ec\u9057\u4f20\u7a81\u53d8\u548c\u65b0\u53d1\u7a81\u53d8\uff0c\u70b9\u7a81\u53d8\u548c\u7ed3\u6784\u53d8\u5f02<\/div>\n
\u00a0<\/div>\n
02\u00a0\u54ea\u4e9b\u57fa\u56e0\u4e0e\u81ea\u95ed\u75c7\u6709\u660e\u786e\u7684\u5173\u7cfb\uff1f<\/div>\n
\u81ea\u95ed\u75c7\u76f8\u5173\u7684\u9057\u4f20\u4fe1\u53f7\u4e3b\u8981\u6765\u81ea\u4ee5\u4e0b\u56db\u7c7b\uff1a<\/div>\n
1\u3001\u81ea\u95ed\u75c7\u76f8\u5173\u7684\u7efc\u5408\u5f81\uff08ASD-related syndromes\uff09<\/div>\n
2\u3001\u7f55\u89c1\u7684\u67d3\u8272\u4f53\u7ed3\u6784\u5f02\u5e38\uff08Rare Chromosomal Abnormalities\uff09<\/div>\n
3\u3001\u7f55\u89c1\u7684\u62f7\u8d1d\u6570\u53d8\u5f02\uff08CNVs\uff0c\u6ce8\uff1a\u4e0e\u62f7\u8d1d\u6570\u53d8\u5f02\u76f8\u5173\u7684\u81f4\u75c5\u57fa\u56e0\u5c1a\u4e0d\u6e05\u695a\uff09<\/div>\n
4\u3001\u7f55\u89c1\u7684\u5916\u663e\u57fa\u56e0\uff08Penetrant Genes\uff0c\u5373\u8be5\u57fa\u56e0\u7a81\u53d8\u80fd\u4e0e\u75be\u75c5\u8868\u578b\u5bf9\u5e94\u8d77\u6765\uff09<\/div>\n\n
\n
\"eicZhoGYCfyYsMFLlcPDEJ8ryArBHQVwzbJhHqCBSeurdPjO8lzeXnzjUsySVCy9YsCjj43wIiaz0Bfia7nVTfgLQ\"\/<\/figure><\/div>\n\n

\u56fe2\uff1a\u81ea\u95ed\u75c7\u9057\u4f20\u7ed3\u6784\u56fe\uff08\u6765\u81eaCurr Opin Genet Dev. 2012;22:229-37\uff09<\/p>\n

\u6587\u732e\u94fe\u63a5\uff1ahttp:\/\/www.sciencedirect.com\/science\/article\/pii\/S0959437X12000366<\/div>\n
\u7b2c\u4e00\u7c7b\uff1a\u81ea\u95ed\u75c7\u76f8\u5173\u7684\u7efc\u5408\u5f81(ASD-related syndromes)<\/div>\n
\u8fd9\u7c7b\u57fa\u56e0\u53d1\u751f\u7a81\u53d8\uff0c\u867d\u7136\u53ea\u80fd\u5728\u7ea610%\u81ea\u95ed\u75c7\u60a3\u8005\u4e2d\u68c0\u6d4b\u5230\uff0c\u4f46\u662f\uff0c\u4e00\u65e6\u5728\u81ea\u95ed\u75c7\u60a3\u8005\u4e2d\u68c0\u6d4b\u5230\u4e86\u8fd9\u4e9b\u57fa\u56e0\u7684\u7a81\u53d8\uff0c\u5c31\u6781\u6709\u53ef\u80fd\u89e3\u91ca\u81ea\u95ed\u75c7\u7684\u8868\u578b\u3002<\/div>\n\n
\n
\"eicZhoGYCfyYsMFLlcPDEJ8ryArBHQVwzZDtD4JOsDNJ6jbhrfznQOyNVQgQ3EZjECbdN3W167picpSaqicWxnfuw\"\/<\/figure><\/div>\n\n
\u56fe3\uff1a\u81ea\u95ed\u75c7\u76f8\u5173\u7684\u7efc\u5408\u5f81\uff0c\u5f15\u81eaNat Rev Genet. 2008, 9(5): 341-355<\/div>\n
\u6587\u732e\u94fe\u63a5\uff1ahttps:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2756414\/pdf\/nihms-135322.pdf<\/div>\n
\u7b2c\u4e8c\u7c7b\uff1a\u67d3\u8272\u4f53\u7ed3\u6784\u5f02\u5e38<\/div>\n
\u8fd9\u7c7b\u4fe1\u53f7\u53ef\u4ee5\u57285%\u7684\u81ea\u95ed\u75c7\u60a3\u8005\u4e2d\u68c0\u6d4b\u5230\u3002\u968f\u7740\u8d85\u58f0\uff0c\u65e0\u521b\u57fa\u56e0\u8bca\u65ad\u7b49\u6280\u672f\u7684\u8fdb\u6b65\uff0c\u8fd9\u4e00\u7c7b\u7ed3\u6784\u5f02\u5e38\u662f\u5bb9\u6613\u5728\u5b69\u5b50\u51fa\u751f\u524d\u88ab\u68c0\u6d4b\u51fa\u6765\u7684\u3002<\/div>\n
\u7b2c\u4e09\u7c7b\uff1a\u7f55\u89c1\u7684\u62f7\u8d1d\u6570\u53d8\u5f02<\/div>\n
\u8fd9\u7c7b\u4fe1\u53f7\u7684\u68c0\u51fa\u7387\u4e5f\u6bd4\u8f83\u9ad8\uff0c\u76ee\u524d\u56fd\u9645\u4e0a\u5df2\u7ecf\u5728\u63a8\u8350\u4f7f\u7528\u67d3\u8272\u4f53\u82af\u7247\u6280\u672f\u4f5c\u4e3a\u81ea\u95ed\u75c7\uff08ASD\uff09\u3001\u667a\u529b\u969c\u788d\uff08ID\uff09\u3001\u53d1\u80b2\u8fdf\u7f13\uff08DD\uff09\u3001\u591a\u53d1\u7578\u5f62\uff08MCA\uff09\u60a3\u8005\u7684\u4e00\u7ebf\u7b5b\u67e5\u3002<\/div>\n\n
\n
\"eicZhoGYCfyYsMFLlcPDEJ8ryArBHQVwzicib0sKuQcVPjia7kW4BaFB0hMr0T3eZLtkKicgtbeY4HKwB2Zgo7pavOA\"\/<\/figure><\/div>\n\n
\u56fe4\uff1a\u62f7\u8d1d\u6570\u53d8\u5f02\u5728\u81ea\u95ed\u75c7\uff08ASD\uff09\u3001\u667a\u529b\u969c\u788d\uff08ID\uff09\u3001\u53d1\u80b2\u8fdf\u7f13\uff08DDR\uff09\u3001\u591a\u53d1\u7578\u5f62\uff08MCA\uff09\u60a3\u8005\u4e2d\u7684\u68c0\u51fa\u7387\u3002\u6458\u81eaAm J Hum Genet. 2010, 86(5): 749-764<\/div>\n
\u6587\u732e\u94fe\u63a5\uff1ahttp:\/\/europepmc.org\/articles\/PMC2869000\/<\/div>\n
\u7b2c\u56db\u7c7b\uff1a\u7f55\u89c1\u7684\u5916\u663e\u57fa\u56e0\u7a81\u53d8<\/div>\n
\u8fd9\u4e00\u7c7b\u57fa\u56e0\uff0c\u5927\u591a\u662f\u968f\u7740\u6d4b\u5e8f\u6280\u672f\u7684\u8fdb\u6b65\u548c\u57fa\u56e0\u529f\u80fd\u7814\u7a76\u65b9\u6cd5\u7684\u7a81\u7834\uff0c\u4e0d\u65ad\u88ab\u62a5\u9053\u5e76\u8bc1\u5b9e\u8ddf\u81ea\u95ed\u75c7\u76f8\u5173\u3002<\/div>\n\n
\n
\"eicZhoGYCfyYsMFLlcPDEJ8ryArBHQVwza0Nzic5xURMicHpzNicWKXBqsFG880mFoQKse0iamb3aq8tLiaZbewJbELg\"\/<\/figure><\/div>\n\n
\u56fe5\uff1a\u57fa\u4e8e\u65b0\u4e00\u4ee3\u6d4b\u5e8f\uff08NGS\uff09\u53d1\u73b0\u7684\u81ea\u95ed\u75c7\u76f8\u5173\u57fa\u56e0\uff08\u6765\u81eaGenet Res (Camb), 2013, 95(4): 121-129\uff09<\/div>\n
\u6587\u732e\u94fe\u63a5\uff1ahttps:\/\/www.cambridge.org\/core\/product\/identifier\/S0016672313000153\/type\/journal_article<\/div>\n
http:\/\/sci-hub.io\/10.1017\/s0016672313000153#<\/div>\n
\u00a0<\/div>\n
03\u00a0\u79d1\u5b66\u5bb6\u901a\u8fc7\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u53d1\u73b0\u4e86\u4ec0\u4e48\uff1f\u5bf9\u60a3\u8005\u6709\u4f55\u5e2e\u52a9\uff1f<\/div>\n
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\"eicZhoGYCfyYsMFLlcPDEJ8ryArBHQVwzGicXOMhF2ESdqeSicKvcFghFlgPRwEiahaywmrruW3cd2x7T96QYdSnjw\"\/<\/figure><\/div>\n\n<\/div>\n
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\"eicZhoGYCfyYsMFLlcPDEJ8ryArBHQVwzwqtfQBq7YHYMvLibb9z6RxaLFrOPw1OicTriazOJNm0EzAlg31lbfpkuQ\"\/<\/figure><\/div>\n\n<\/div>\n
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\"eicZhoGYCfyYsMFLlcPDEJ8ryArBHQVwzeUfBoL59HPSFZ8j3aO1togEXpqMwygoicCpEVnibE8ibEp8L9gKGdarrQ\"\/<\/figure><\/div>\n\n<\/div>\n
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\"eicZhoGYCfyYsMFLlcPDEJ8ryArBHQVwzb19Zbicce2hdx6Ip2XXeugOkkMTfcy7iciaJFJicYekYMmHLibwv2OWINeg\"\/<\/figure><\/div>\n\n<\/div>\n
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\"eicZhoGYCfyYsMFLlcPDEJ8ryArBHQVwzVvNJzibibN8WzJibTRHDribvXE7AKNOUzuoXFwXicXqlW9PyumR5JibR8qMA\"\/<\/figure><\/div>\n\n<\/div>\n
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\"eicZhoGYCfyYsMFLlcPDEJ8ryArBHQVwzhTfEDib1fAAOGd3t0ZM9VOHmgghkW3jreOVwNAMsUA3cGOJAr5fmBMQ\"\/<\/figure><\/div>\n\n<\/div>\n
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\"eicZhoGYCfyYsMFLlcPDEJ8ryArBHQVwzo4KLDJicicvliadJ85gGaIsELaxbwUTYhBSZR5GhMBUfjWA1iaiaIBYFTUw\"\/<\/figure><\/div>\n\n<\/div>\n
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\"eicZhoGYCfyYsMFLlcPDEJ8ryArBHQVwzRLFNHT0hUEwOTKOUAF7eonfOiayDIDEnVkQd8UZOjia8sSmm17RUmDYA\"\/<\/figure><\/div>\n\n<\/div>\n
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