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1\u62a5\u544a\u793a\u4f8b<\/p>\n
\u9633\u6027\u62a5\u544a\u793a\u4f8b<\/p>\n
\u9634\u6027\u62a5\u544a\u793a\u4f8b<\/p>\n
\u62a5\u544a\u4e3b\u4f53\u5185\u5bb9\u5305\u542b\uff1a<\/p>\n
\u57fa\u672c\u4fe1\u606f\uff1a\u53d7\u68c0\u4eba\u7684\u4e2a\u4eba\u4fe1\u606f\u548c\u9001\u68c0\u4fe1\u606f\uff0c\u5305\u62ec\u59d3\u540d\u3001\u5e74\u9f84\u3001\u6027\u522b\u3001\u95e8\u8bca\/\u4f4f\u9662\u53f7\u3001\u7b80\u8981\u75c5\u53f2\u3001\u9001\u68c0\u79d1\u5ba4\u3001\u9001\u68c0\u533b\u5e08\u3001\u68c0\u6d4b\u9879\u76ee\u3001\u9001\u68c0\u65f6\u95f4\u3001\u6837\u672c\u7c7b\u578b\u3001\u6837\u672c\u7f16\u53f7\u7b49\u3002<\/p>\n
\u68c0\u6d4b\u7ed3\u679c\uff1a\u9633\u6027\u7ed3\u679c\u4f1a\u5217\u51fa\u68c0\u6d4b\u5230\u7684\u57fa\u56e0\u53d8\u5f02\u76f8\u5173\u4fe1\u606f\uff0c\u9634\u6027\u7ed3\u679c\u5373\u4e3a\u672a\u68c0\u6d4b\u5230\u3002<\/p>\n
\u7ed3\u679c\u8bf4\u660e\uff1a\u5bf9\u68c0\u6d4b\u5230\u7684\u57fa\u56e0\u53d8\u5f02\u7684\u8bf4\u660e\u548c\u81f4\u75c5\u6027\u8bc4\u7ea7\u3002<\/p>\n
\u5206\u6790\u610f\u89c1\uff1a\u5b9e\u9a8c\u5ba4\u9488\u5bf9\u68c0\u6d4b\u7ed3\u679c\u7ed9\u51fa\u7684\u521d\u6b65\u7ed3\u8bba\u548c\u5efa\u8bae\u3002<\/p>\n
\u75be\u75c5\u4fe1\u606f\uff1a\u5bf9\u4e8e\u68c0\u51fa\u75be\u75c5\u4e34\u5e8a\u7279\u5f81\u7684\u7b80\u8981\u63cf\u8ff0\u3002<\/p>\n
2\u5982\u4f55\u770b\u61c2\u9057\u4f20\u75c5\u57fa\u56e0\u68c0\u6d4b\u62a5\u544a<\/p>\n
\u5bf9\u4e8e\u9633\u6027\u7ed3\u679c\uff0c\u5217\u8868\u7ed9\u51fa\u7684\u4fe1\u606f\u6709\u57fa\u56e0\u540d\u79f0\u3001\u67d3\u8272\u4f53\u4f4d\u7f6e\u3001\u53d8\u5f02\u4fe1\u606f\u3001\u53d8\u5f02\u81f4\u75c5\u8bc4\u7ea7\u3001\u9891\u7387\u3001\u53d7\u68c0\u8005\u53ca\u5176\u7236\u6bcd\u7684\u5408\u5b50\u7c7b\u578b\u3001\u5bf9\u5e94\u75be\u75c5\u3001\u9057\u4f20\u65b9\u5f0f\u3002<\/p>\n
\u57fa\u56e0\uff1a\u53d1\u751f\u53d8\u5f02\u7684\u57fa\u56e0\u540d\u79f0\uff0c\u57fa\u56e0\u662f\u5e26\u6709\u9057\u4f20\u4fe1\u606f\u7684DNA\u7247\u6bb5\u3002<\/p>\n
\u67d3\u8272\u4f53\u4f4d\u7f6e\uff1a\u6839\u636eGRCh37\/hg19\u57fa\u56e0\u7ec4\u7248\u672c\u5bf9\u6bcf\u4e2a\u4f4d\u7f6e\u7684\u7f16\u53f7\uff0c\u4e5f\u662f\u53d8\u5f02\u7684\u7edd\u5bf9\u4f4d\u7f6e\u3002\u5177\u4f53\u5199\u6cd5\u4e3a\uff1achr\u67d3\u8272\u4f53\u53f7:\u4f4d\u7f6e\u3002<\/p>\n
\u8f6c\u5f55\u672c\uff1a\u8f6c\u5f55\u672c\u662f\u6709\u4e00\u4e2a\u57fa\u56e0\u901a\u8fc7\u8f6c\u5f55\u5f62\u6210\u7684\u4e00\u79cd\u6216\u591a\u79cd\u53ef\u4f9b\u7f16\u7801\u86cb\u767d\u8d28\u7684\u6210\u719f\u7684mRNA\u3002\u7531\u4e8e\u4e0d\u540c\u8f6c\u5f55\u672c\u4e2d\u5bf9\u540c\u4e00\u4e2a\u4f4d\u70b9\u7684\u63cf\u8ff0\uff08\u5305\u62ec\u6838\u82f7\u9178\u3001\u6c28\u57fa\u9178\u7684\u4f4d\u7f6e\uff09\u662f\u4e0d\u540c\u7684\uff0c\u6240\u4ee5\u4f1a\u5728\u62a5\u544a\u4e2d\u6807\u6ce8\u51fa\u6838\u82f7\u9178\u3001\u6c28\u57fa\u9178\u4f4d\u7f6e\u5bf9\u5e94\u7684\u662f\u5177\u4f53\u54ea\u4e2a\u8f6c\u5f55\u672c\uff0c\u65b9\u4fbf\u53d8\u5f02\u4f4d\u70b9\u7684\u67e5\u627e\u53ca\u6838\u5bf9\u3002<\/p>\n
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\u6838\u82f7\u9178\u6539\u53d8\/\u6c28\u57fa\u9178\u6539\u53d8\uff1a\u6839\u636eHGVS\u89c4\u5219\u547d\u540d\u7684\u6838\u82f7\u9178\u53d8\u5316\/\u6c28\u57fa\u9178\u53d8\u5316\u3002\u6838\u82f7\u9178\u6709A\u3001T\u3001C\u3001G\u56db\u79cd\uff0c\u539f\u672c\u6709\u56fa\u5b9a\u7684\u6392\u5217\u987a\u5e8f\uff0c\u5982\u679c\u7b2c211\u53f7\u4f4d\u7f6e\u53d1\u751f\u4e86\u7a81\u53d8\uff0c\u539f\u672c\u7684A\u88abC\u53d6\u4ee3\u4e86\uff0c\u53ef\u4ee5\u5199\u4f5c\uff1ac.211A>C\u3002\u76f8\u5e94\u7684\u6c28\u57fa\u9178\u670920\u79cd\uff0c\u4e5f\u6709\u56fa\u5b9a\u7684\u6392\u5217\uff0c\u5982\u679c\u7b2c78\u53f7\u4f4d\u7f6e\u4e1d\u6c28\u9178\uff08S\uff09\u88ab\u916a\u6c28\u9178\uff08Y\uff09\u53d6\u4ee3\u4e86\uff0c\u53ef\u4ee5\u5199\u4f5c\uff1ap.S78Y\u3002<\/p>\n
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\u9891\u7387\uff1a\u6307\u8be5\u4f4d\u70b9\u5728\u6b63\u5e38\u4eba\u6570\u636e\u5e93\u4e2d\u7684\u9891\u7387\u3002\u901a\u4fd7\u6765\u8bf4\uff0c\u6b63\u5e38\u4eba\u643a\u5e26\u7684\u9891\u7387\u8d8a\u9ad8\uff0c\u81f4\u75c5\u7684\u53ef\u80fd\u6027\u5c31\u8d8a\u5c0f\u3002<\/p>\n
\u81f4\u75c5\u6027\u5206\u6790\uff1a\u6307\u8be5\u53d8\u5f02\u6839\u636eACMG\u6307\u5357*\u8bc4\u7ea7\u4ee5\u540e\u7684\u81f4\u75c5\u6027\uff0cACMG\u6307\u5357\u6839\u636e\u4e0d\u540c\u8bc1\u636e\uff0c\u5c06\u53d8\u5f02\u5212\u5206\u4e3a5\u4e2a\u7b49\u7ea7\uff0c\u5206\u522b\u4e3a\u81f4\u75c5\uff08Pathogenic\uff09\u3001\u53ef\u80fd\u81f4\u75c5\uff08Likely Pathogenic\uff09\u3001\u610f\u4e49\u672a\u660e\uff08Uncertain\uff09\u3001\u53ef\u80fd\u826f\u6027\uff08Likely Benign\uff09\u548c\u826f\u6027\uff08Benign\uff09\u3002<\/p>\n
\u5982\u679c\u7ed3\u679c\u662fPathogenic\u6216Likely Pathogenic\uff0c\u90a3\u4e48\u53d8\u5f02\u662f\u81f4\u75c5\u6027\u7684\u53ef\u80fd\u6027\u6bd4\u8f83\u5927\uff1b\u6709\u65f6\u4e5f\u4f1a\u6709\u53d8\u5f02\u4e3aUncertain\uff0c\u76ee\u524d\u6765\u770b\u81f4\u75c5\u6027\u8bc1\u636e\u4e0d\u8db3\uff0c\u4f46\u662f\u4e0d\u80fd\u6392\u9664\uff0c\u9700\u8981\u6839\u636e\u4e34\u5e8a\u8fdb\u4e00\u6b65\u6838\u5b9e\uff0cLikely Benign\u6216Benign\u7684\u4f4d\u70b9\u4e00\u822c\u4e0d\u4f1a\u653e\u5230\u62a5\u544a\u4e2d\u3002<\/p>\n
*\u6ce8\uff1aACMG\u6307\u5357\u4e3a\u7f8e\u56fd\u6743\u5a01\u673a\u6784\u2014\u2014\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u4e0e\u57fa\u56e0\u7ec4\u5b66\u5b66\u4f1a\uff08ACMG\uff09\u57282015\u5e74\u7f16\u5199\u548c\u53d1\u5e03\u7684\u300aACMG\u9057\u4f20\u53d8\u5f02\u5206\u7c7b\u6807\u51c6\u4e0e\u6307\u5357\u300b\u3002\u8be5\u6307\u5357\u662f\u591a\u5b66\u79d1\u4e13\u5bb6\u57fa\u4e8e\u5927\u91cf\u4e34\u5e8a\u6848\u4f8b\u548c\u4e30\u5bcc\u7ecf\u9a8c\u5efa\u7acb\u7684\uff0c\u53ef\u4ee5\u4e3a\u5206\u6790\u53d7\u68c0\u8005\u4f4d\u70b9\u7684\u81f4\u75c5\u6027\u63d0\u4f9b\u4e00\u5b9a\u53c2\u8003\uff0c\u4f46\u8003\u8651\u5230\u6bcf\u4e2a\u68c0\u6d4b\u8005\u7684\u60c5\u51b5\u4e0d\u540c\uff0c\u6240\u4ee5\u4e0d\u80fd\u4f5c\u4e3a\u6700\u7ec8\u4e34\u5e8a\u5224\u5b9a\u81f4\u75c5\u6027\u7684\u7ed3\u8bba\uff0c\u9700\u8981\u540c\u65f6\u7ed3\u5408\u53d7\u68c0\u8005\u7684\u4e34\u5e8a\u75c7\u72b6\u3001\u9057\u4f20\u65b9\u5f0f\u3001\u5bb6\u65cf\u53f2\u7b49\u65b9\u9762\u7efc\u5408\u5224\u65ad\u3002<\/p>\n
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\uff081\uff09\u5982\u679c\u4e24\u4e2a\u7b49\u4f4d\u57fa\u56e0\u76f8\u540c\u4f4d\u7f6e\u5b58\u5728\u76f8\u540c\u53d8\u5f02\uff0c\u79f0\u4e3a\u7eaf\u5408\uff1b<\/p>\n
\uff082\uff09\u5982\u679c\u4e24\u4e2a\u7b49\u4f4d\u57fa\u56e0\u90fd\u53d1\u751f\u4e86\u53d8\u5f02\u4f46\u5728\u4e0d\u540c\u7684\u4f4d\u7f6e\uff0c\u79f0\u4e3a\u590d\u5408\u6742\u5408\uff1b<\/p>\n
\uff083\uff09\u5982\u679c\u4e24\u4e2a\u7b49\u4f4d\u57fa\u56e0\u53ea\u6709\u4e00\u4e2a\u53d1\u751f\u4e86\u53d8\u5f02\uff0c\u79f0\u4e3a\u6742\u5408\u3002<\/p>\n
\uff084\uff09\u534a\u5408\u5b50\u662f\u4e00\u79cd\u7279\u6b8a\u60c5\u51b5\uff0c\u5982\u7537\u6027\u7684X\u67d3\u8272\u4f53\uff0c\u6ca1\u6709\u7b49\u4f4d\u57fa\u56e0\uff0c\u5f53\u7537\u6027X\u67d3\u8272\u4f53\u57fa\u56e0\u53d1\u751f\u6539\u53d8\u79f0\u4e3a\u534a\u5408\u5b50\u53d8\u5f02\u3002<\/p>\n
\uff085\uff09\u91ce\u751f\u578b\u5373\u4e3a\u65e0\u57fa\u56e0\u53d8\u5f02\u3002<\/p>\n
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\u9057\u4f20\u65b9\u5f0f\uff1a\u5e38\u89c1\u7684\u662f\u5e38\u67d3\u8272\u663e\u6027\u9057\u4f20\u3001\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\u3001X\u8fde\u9501\u663e\u6027\u9057\u4f20\u548cX\u8fde\u9501\u9690\u6027\u9057\u4f20\u7b49\u3002<\/p>\n
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