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\"\"
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FSHD)\u662f\u5e38\u898b\u7684\u808c\u5931\u990a\u75c7\u4e4b\u4e00\uff0c\u5176\u76db\u884c\u7387\u7d04\u70ba\u6bcf10\u842c\u4eba\u4e2d\u67094~10\u540d\u60a3\u8005\uff0c\u6b64\u75c7\u70ba\u9ad4\u67d3\u8272\u9ad4\u986f\u6027\u907a\u50b3\uff0c\u4f46\u670910-30%\u4f86\u81ea\u65b0\u7684\u7a81\u8b8a\u3002\u5176\u75c7\u72c0\u8207\u5176\u4ed6\u808c\u8089\u5931\u990a\u75c7\u7565\u6709\u4e0d\u540c\uff0c\u4e3b\u8981\u5f71\u97ff\u808c\u8089\u7fa4\u70ba\u984f\u9762\u808c\u8089\u3001\u80a9\u80db\u90e8\u3001\u4e0a\u81c2\u808c\u53ca\u80b1\u9aa8\u7b49\u90e8\u4f4d\u4e4b\u808c\u8089\uff1b\u800c\u76f8\u5c0d\u65bc\u5176\u4ed6\u808c\u8089\u5931\u990a\u75c7\uff0c\u6b64\u75c7\u7684\u75c5\u7a0b\u9032\u5c55\u8f03\u7de9\u6162\uff0c\u5927\u591a\u6578\u65bc\u9752\u5c11\u5e74\u671f\u51fa\u73fe\u75c7\u72c0\uff0c\u4f46\u5c11\u90e8\u5206\u8f03\u56b4\u91cd\u60a3\u8005\u53ef\u80fd\u5728\u5b30\u5152\u671f\u6216\u7ae5\u5e74\u65e9\u671f\u5c31\u767c\u75c5\uff0c\u8f03\u8f15\u5fae\u60a3\u8005\u5247\u53ef\u80fd\u751a\u81f3\u5230\u665a\u5e74\u624d\u958b\u59cb\u6709\u75c7\u72c0\uff0c\u81e8\u5e8a\u8868\u73fe\u5dee\u7570\u6027\u9817\u5927\u3002 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\u300c\u984f\u9762\u80a9\u80db\u80b1\u808c\u5931\u990a\u75c7\u76ee\u524d\u5c1a\u7121\u6709\u6548\u7684\u6cbb\u7642\u65b9\u5f0f\uff0c\u4e3b\u8981\u4ee5\u75c7\u72c0\u6cbb\u7642\u70ba\u4e3b\u300d\uff0c\u6881\u6587\u8c9e\u91ab\u5e2b\u6307\u51fa\uff0c\u76ee\u524d\u6a19\u6e96\u8a3a\u65b7\u65b9\u5f0f\u662f\u4f7f\u7528\u300c\u5357\u65b9\u9ede\u58a8\u6cd5\u300d\uff0c\u7121\u6cd5\u4ee5\u300c\u6b21\u4e16\u4ee3\u57fa\u56e0\u5b9a\u5e8f(Next Generation Sequencing, NGS)\u300d\u65b9\u5f0f\u52a0\u4ee5\u8a3a\u65b7\uff0c\u9808\u9760\u4eba\u5de5\u8403\u53d6\u9577\u7247\u6bb5DNA\u57f7\u884c\uff0c\u76f8\u7576\u8017\u8cbb\u4eba\u529b\u53ca\u6642\u9593\uff0c\u4e14\u9808\u8c50\u5bcc\u7d93\u9a57\u5224\u8b80\u7d50\u679c\uff0c\u76ee\u524d\u5168\u81fa\u7063\u50c5\u9ad8\u91ab\u53ef\u57f7\u884c\u6b64\u9805\u6aa2\u9a57\uff0c\u6bcf\u5e74\u63a5\u53d7\u5168\u81fa\u6aa2\u9ad4\u7d0440~50\u4ef6\uff0c\u78ba\u8a3a\u75c5\u4eba\u7d04\u536050~60%\uff0c\u5c0d\u65bc\u6b64\u75be\u75c5\u65cf\u7fa4\u7684\u907a\u50b3\u8aee\u8a62\u3001\u5408\u4f75\u75c7\u7684\u9810\u9632\u8655\u7406\u4ee5\u53ca\u63d0\u4f9b\u6700\u65b0\u85e5\u7269\u958b\u767c\u8cc7\u8a0a\u6709\u5f88\u5927\u5e6b\u52a9\u3002 \u25b2\u9ad8\u91ab\u7f55\u898b\u75be\u75c5\u7167\u8b77\u8aee\u8a62\u4e2d\u5fc3\u7576\u75c5\u53cb\u7684\u5065\u5eb7\u4f9d\u9760\u3002\uff08\u5716\uff0f\u9ad8\u91ab\u5927\uff09 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NGS)\u300d\u65b9\u5f0f\u52a0\u4ee5\u8a3a\u65b7\uff0c\u9808\u9760\u4eba\u5de5\u8403\u53d6\u9577\u7247\u6bb5DNA\u57f7\u884c\uff0c\u76f8\u7576\u8017\u8cbb\u4eba\u529b\u53ca\u6642\u9593\uff0c\u4e14\u9808\u8c50\u5bcc\u7d93\u9a57\u5224\u8b80\u7d50\u679c\uff0c\u76ee\u524d\u5168\u81fa\u7063\u50c5\u9ad8\u91ab\u53ef\u57f7\u884c\u6b64\u9805\u6aa2\u9a57\uff0c\u6bcf\u5e74\u63a5\u53d7\u5168\u81fa\u6aa2\u9ad4\u7d0440~50\u4ef6\uff0c\u78ba\u8a3a\u75c5\u4eba\u7d04\u536050~60%\uff0c\u5c0d\u65bc\u6b64\u75be\u75c5\u65cf\u7fa4\u7684\u907a\u50b3\u8aee\u8a62\u3001\u5408\u4f75\u75c7\u7684\u9810\u9632\u8655\u7406\u4ee5\u53ca\u63d0\u4f9b\u6700\u65b0\u85e5\u7269\u958b\u767c\u8cc7\u8a0a\u6709\u5f88\u5927\u5e6b\u52a9\u3002 \u25b2\u9ad8\u91ab\u7f55\u898b\u75be\u75c5\u7167\u8b77\u8aee\u8a62\u4e2d\u5fc3\u7576\u75c5\u53cb\u7684\u5065\u5eb7\u4f9d\u9760\u3002\uff08\u5716\uff0f\u9ad8\u91ab\u5927\uff09 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FSHD)\u662f\u5e38\u898b\u7684\u808c\u5931\u990a\u75c7\u4e4b\u4e00\uff0c\u5176\u76db\u884c\u7387\u7d04\u70ba\u6bcf10\u842c\u4eba\u4e2d\u67094~10\u540d\u60a3\u8005\uff0c\u6b64\u75c7\u70ba\u9ad4\u67d3\u8272\u9ad4\u986f\u6027\u907a\u50b3\uff0c\u4f46\u670910-30%\u4f86\u81ea\u65b0\u7684\u7a81\u8b8a\u3002\u5176\u75c7\u72c0\u8207\u5176\u4ed6\u808c\u8089\u5931\u990a\u75c7\u7565\u6709\u4e0d\u540c\uff0c\u4e3b\u8981\u5f71\u97ff\u808c\u8089\u7fa4\u70ba\u984f\u9762\u808c\u8089\u3001\u80a9\u80db\u90e8\u3001\u4e0a\u81c2\u808c\u53ca\u80b1\u9aa8\u7b49\u90e8\u4f4d\u4e4b\u808c\u8089\uff1b\u800c\u76f8\u5c0d\u65bc\u5176\u4ed6\u808c\u8089\u5931\u990a\u75c7\uff0c\u6b64\u75c7\u7684\u75c5\u7a0b\u9032\u5c55\u8f03\u7de9\u6162\uff0c\u5927\u591a\u6578\u65bc\u9752\u5c11\u5e74\u671f\u51fa\u73fe\u75c7\u72c0\uff0c\u4f46\u5c11\u90e8\u5206\u8f03\u56b4\u91cd\u60a3\u8005\u53ef\u80fd\u5728\u5b30\u5152\u671f\u6216\u7ae5\u5e74\u65e9\u671f\u5c31\u767c\u75c5\uff0c\u8f03\u8f15\u5fae\u60a3\u8005\u5247\u53ef\u80fd\u751a\u81f3\u5230\u665a\u5e74\u624d\u958b\u59cb\u6709\u75c7\u72c0\uff0c\u81e8\u5e8a\u8868\u73fe\u5dee\u7570\u6027\u9817\u5927\u3002 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