{"id":2634,"date":"2020-04-08T23:00:22","date_gmt":"2020-04-08T15:00:22","guid":{"rendered":"https:\/\/geneusmtc.com\/?page_id=2634"},"modified":"2021-05-14T09:55:06","modified_gmt":"2021-05-14T01:55:06","slug":"%e5%81%a5%e5%ba%b7%e5%85%88%e7%9f%a5","status":"publish","type":"page","link":"https:\/\/geneusmtc.com\/service\/%e5%81%a5%e5%ba%b7%e5%85%88%e7%9f%a5\/","title":{"rendered":""},"content":{"rendered":"

\u5065\u5eb7\u5148\u77e5 (\u9032\u968e\u7248)<\/strong><\/h2>\n<\/div>

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\u5176\u4ed6\u5982\u6953\u7cd6\u5c3f\u75c7\uff08maple syrup urine disease\uff09\u4e5f\u5728\u6aa2\u6e2c\u9805\u76ee\u4e2d\u3002\u60a3\u8005\u7684\u9ad4\u3001\u5c3f\u6db2\u6709\u6953\u7cd6\u6f3f\u5473\uff0c\u662f\u6700\u5e38\u767c\u751f\u5728\u539f\u4f4f\u6c11\u65cf\u7fa4\u7684\u4ee3\u8b1d\u7570\u5e38\u75be\u75c5\uff0c\u7f55\u898b\u75be\u75c5\u57fa\u56e0\u6703\u638c\u63e1\u7684\u6848\u4f8b\u4e2d\uff0c\u5c31\u670970%\u4ee5\u4e0a\u70ba\u539f\u4f4f\u6c11\u5b69\u5b50\u3002\u7531\u65bc\u9ad4\u5167\u7f3a\u5c11\u652f\u93c8\u7532\u578b\u916e\u9178\u812b\u6c2b\u9176\u7d20(branched-chain \u03b1-keto acid dehydrogenase)\uff0c\u4f7f\u5f97\u652f\u93c8\u80fa\u57fa\u9178\u7121\u6cd5\u9032\u884c\u53bb\u7fa7\u57fa\u53cd\u61c9\uff08decarboxylation\uff09\uff0c\u56e0\u800c\u652f\u93c8\u80fa\u57fa\u9178\uff08\u7e88\u80fa\u9178\u3001\u767d\u80fa\u9178\u3001\u7570\u767d\u80fa\u9178\uff09\u5806\u7a4d\u5728\u9ad4\u5167\u7522\u751f\u6bd2\u6027\uff0c\u4f7f\u8166\u640d\u50b7\uff0c\u4e5f\u7522\u751f\u4e86\u7279\u6b8a\u7684\u9ad4\u5473\uff0c\u5c6c\u65bc\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\u75be\u75c5\uff0c\u901a\u5e38\u7f79\u60a3\u6b64\u75c7\u7684\u5b30\u5152\uff0c\u5728\u958b\u59cb\u9935\u98df\u5f8c\u6578\u5929\u9010\u6f38\u51fa\u73fe\u5614\u5410\u3001\u55dc\u7761\u3001\u98df\u617e\u6e1b\u4f4e\u3001\u547c\u5438\u6025\u4fc3\u3001\u9ec3\u75b8\u3001\u62bd\u6410\u7b49\u73fe\u8c61\uff0c\u56e0\u6b64\u9577\u671f\u9700\u7279\u6b8a\u5976\u7c89\u9069\u7576\u7ba1\u5236\u75c5\u60a3\u5c0d\u5206\u652f\u93c8\u80fa\u57fa\u9178\u7684\u651d\u53d6\u3002<\/p>\n

\u6280\u8853\u6458\u8981<\/p>\n

\u6211\u5011\u4f7f\u7528\u6b21\u4e16\u4ee3\u5b9a\u5e8f\u65b9\u6cd5\u89e3\u6790\u57fa\u56e0\u5e8f\u5217\uff0c\u6280\u8853\u7684\u654f\u611f\u6027\u548c\u7279\u7570\u6027\u9ad8\u905499%\u3002\u9019\u500b\u6aa2\u6e2c\u7684\u5e73\u5747\u8986\u84cb\u6df1\u5ea6 > 100X\u4e1498%\u7684\u76ee\u6a19\u5340\u7684\u8986\u84cb\u7387 >= 10X\u3002\u9019\u500b\u57fa\u56e0\u6aa2\u6e2c\u5957\u4ef6\u4f7f\u7528Atlas-CNV\u65b9\u6cd5\u5075\u6e2c\u5927\u7247\u6bb5\u7684\u7f3a\u5931\u53ca\u91cd\u8907(CNVs)<\/p>\n<\/div>