{"id":25881,"date":"2024-01-23T17:38:28","date_gmt":"2024-01-23T09:38:28","guid":{"rendered":"http:\/\/www.biocloudservice.com\/wordpress\/?p=25881"},"modified":"2024-01-23T17:38:30","modified_gmt":"2024-01-23T09:38:30","slug":"%e5%8d%81%e5%88%86%e9%92%9f%e6%b7%b1%e5%ba%a6%e8%a7%a3%e6%9e%90%e5%8f%98%e5%bc%82%e6%a3%80%e6%b5%8b","status":"publish","type":"post","link":"http:\/\/www.biocloudservice.com\/wordpress\/?p=25881","title":{"rendered":"\u5341\u5206\u949f\u6df1\u5ea6\u89e3\u6790\u53d8\u5f02\u68c0\u6d4b"},"content":{"rendered":"

\u524d\u4e24\u6b21\u5206\u4eab\u4e2d\u5c0f\u679c\u7ec6\u81f4\u5730\u7ed9\u5927\u5bb6\u8bb2\u89e3\u4e86\u53d8\u5f02\u68c0\u6d4b\u7684\u64cd\u4f5c\u6b65\u9aa4\u4ee5\u53ca\u5982\u4f55\u5206\u6790\u53d8\u5f02\u68c0\u6d4b\u5f97\u5230\u7684\u7ed3\u679c\u6587\u4ef6\uff0c\u5e76\u4e14\u5df2\u7ecf\u7ed9\u5927\u5bb6\u9884\u544a\u4e86\u8fd9\u4e00\u6b21\u7684\u5185\u5bb9\uff1a\u6df1\u5ea6\u89e3\u6790\u53d8\u5f02\u68c0\u6d4b\u3002\u5f88\u591a\u5c0f\u4f19\u4f34\u53ef\u80fd\u89c9\u5f97\u53ea\u8981\u61c2\u6d41\u7a0b\u3001\u4f1a\u5206\u6790\u5c31\u5df2\u7ecf\u8db3\u591f\u4e86\uff0c\u5bf9\u4e8e\u5b8c\u6210\u4e00\u822c\u7684\u4efb\u52a1\u6765\u8bf4\u786e\u5b9e\u5982\u6b64\uff0c\u4f46\u662f\u5982\u679c\u60f3\u8981\u771f\u6b63\u6210\u957f\u4e3a\u5927\u795e\uff0c\u7406\u89e3\u662f\u4e07\u4e07\u4e0d\u80fd\u7f3a\u5c11\u7684\u54e6\u3002\u597d\u4e86\uff0c\u5e9f\u8bdd\u4e0d\u591a\u8bf4\uff0c\u6211\u4eec\u76f4\u63a5\u5f00\u59cb\u672c\u6b21\u7684\u5206\u4eab\u5427~<\/p>\n

\u4ec0\u4e48\u662f\u53d8\u5f02\u68c0\u6d4b\uff1f<\/h2>\n

\u53d8\u5f02\u68c0\u6d4b\u662f\u6307\u901a\u8fc7\u9ad8\u901a\u91cf\u6d4b\u5e8f\u6280\u672f\u5bf9\u67d0\u4e00\u7269\u79cd\u4e2a\u4f53\u6216\u7fa4\u4f53\u7684\u57fa\u56e0\u7ec4\u8fdb\u884c\u6d4b\u5e8f\u53ca\u5dee\u5f02\u5206\u6790\uff0c \u83b7\u5f97\u5927\u91cf\u7684\u9057\u4f20\u53d8\u5f02\u4fe1\u606f<\/strong>\uff0c\u5982\u5355\u6838\u82f7\u9178\u591a\u6001\u6027\uff08single nucleotide polymorphisms\uff0c\u7b80\u79f0SNP\uff09\u3001\u63d2\u5165\u7f3a\u5931\uff08Insertion\u2013deletion mutations\uff0c\u7b80\u79f0InDel\uff09\u3001\u7ed3\u6784\u53d8\u5f02\uff08structural variation\uff0c\u7b80\u79f0SV\uff09\u3001\u62f7\u8d1d\u6570\u53d8\u5f02\uff08copy number variation\uff0c\u7b80\u79f0CNV\uff09\u7b49\u7528\u4e8e\u5f00\u53d1\u5206\u5b50\u6807\u8bb0\u5efa\u7acb\u9057\u4f20\u591a\u6001\u6027\u6570\u636e\u5e93\uff0c\u4e3a\u540e\u7eed\u63ed\u793a\u8fdb\u5316\u5173\u7cfb\u3001\u6316\u6398\u529f\u80fd\u57fa\u56e0\u3001\u7406\u89e3\u75be\u75c5\u7684\u53d1\u75c5\u673a\u5236\u3001\u9884\u6d4b\u75be\u75c5\u98ce\u9669\u3001\u6307\u5bfc\u4e2a\u6027\u5316\u6cbb\u7597\u7b49\u5960\u5b9a\u6570\u636e\u57fa\u7840\u3002<\/p>\n

\u4ee5\u4e0b\u662f\u53d8\u5f02\u68c0\u6d4b\u7684\u4e00\u822c\u6b65\u9aa4\uff1a<\/p>\n

    \n
  1. \u57fa\u56e0\u7ec4\u6d4b\u5e8f\uff1a\u901a\u8fc7\u9ad8\u901a\u91cf\u6d4b\u5e8f\u6280\u672f\uff0c\u83b7\u53d6\u4e2a\u4f53\u7684\u57fa\u56e0\u7ec4\u6570\u636e\u3002\u76ee\u524d\u5e38\u7528\u7684\u6d4b\u5e8f\u65b9\u6cd5\u5305\u62ec\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\uff08whole-exome sequencing\uff09\u548c\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\uff08whole-genome sequencing\uff09\u3002<\/li>\n
  2. \u6570\u636e\u6bd4\u5bf9\uff1a\u5c06\u6d4b\u5e8f\u6570\u636e\u4e0e\u53c2\u8003\u57fa\u56e0\u7ec4\u8fdb\u884c\u6bd4\u5bf9\uff0c\u627e\u5230\u4e0e\u53c2\u8003\u5e8f\u5217\u4e0d\u540c\u7684\u4f4d\u7f6e\u3002\u6bd4\u5bf9\u53ef\u4ee5\u4f7f\u7528\u591a\u79cd\u7b97\u6cd5\uff0c\u4f8b\u5982Burrows-Wheeler Transform (BWT) \u7b97\u6cd5\u3002<\/li>\n
  3. \u53d8\u5f02\u6807\u6ce8\uff1a\u5bf9\u6bd4\u5bf9\u7ed3\u679c\u8fdb\u884c\u5206\u6790\u548c\u6ce8\u91ca\uff0c\u8bc6\u522b\u53ef\u80fd\u7684\u53d8\u5f02\u4f4d\u70b9\u3002\u5e38\u89c1\u7684\u53d8\u5f02\u7c7b\u578b\u5305\u62ec\u5355\u6838\u82f7\u9178\u53d8\u5f02\uff08Single Nucleotide Variants, SNVs\uff09\u3001\u63d2\u5165\/\u7f3a\u5931\uff08Insertions\/Deletions, Indels\uff09\u548c\u7ed3\u6784\u53d8\u5f02\uff08Structural Variants, SVs\uff09\u7b49\u3002<\/li>\n
  4. \u529f\u80fd\u6ce8\u91ca\uff1a\u5bf9\u6807\u8bb0\u51fa\u7684\u53d8\u5f02\u4f4d\u70b9\u8fdb\u884c\u529f\u80fd\u9884\u6d4b\u548c\u6ce8\u91ca\uff0c\u8bc4\u4f30\u5176\u53ef\u80fd\u7684\u5f71\u54cd\u3002\u8fd9\u53ef\u4ee5\u5305\u62ec\u786e\u5b9a\u53d8\u5f02\u662f\u5426\u5728\u7f16\u7801\u533a\u57df\u3001\u662f\u5426\u5bfc\u81f4\u6c28\u57fa\u9178\u6539\u53d8\uff08\u975e\u540c\u4e49\u7a81\u53d8\u3001\u9519\u4e49\u7a81\u53d8\u7b49\uff09\u3001\u662f\u5426\u5728\u8c03\u63a7\u5143\u4ef6\u4e0a\u7b49\u3002<\/li>\n
  5. \u8fdb\u4e00\u6b65\u5206\u6790\uff1a\u8bc6\u522b\u4e0e\u7279\u5b9a\u6027\u72b6\u3001\u75be\u75c5\u6216\u836f\u7269\u53cd\u5e94\u76f8\u5173\u7684\u53d8\u5f02\u3002\u8fd9\u53ef\u80fd\u6d89\u53ca\u5c06\u53d8\u5f02\u4e0e\u5df2\u77e5\u6570\u636e\u5e93\u8fdb\u884c\u6bd4\u8f83\uff0c\u59821000 Genomes Project\u3001ClinVar\u3001dbSNP\u7b49\u3002<\/li>\n
  6. \u7ed3\u679c\u89e3\u8bfb\uff1a\u5c06\u68c0\u6d4b\u5230\u7684\u53d8\u5f02\u7ed3\u679c\u4e0e\u4e34\u5e8a\u6570\u636e\u7ed3\u5408\uff0c\u4ee5\u8bca\u65ad\u75be\u75c5\u6216\u6307\u5bfc\u4e2a\u6027\u5316\u6cbb\u7597\u3002\u8fd9\u6d89\u53ca\u5230\u5bf9\u53d8\u5f02\u7684\u81f4\u75c5\u6027\u3001\u9057\u4f20\u6a21\u5f0f\u548c\u98ce\u9669\u8bc4\u4f30\u8fdb\u884c\u7efc\u5408\u5206\u6790\uff0c\u6709\u65f6\u8fd8\u9700\u8981\u8fdb\u4e00\u6b65\u7684\u5b9e\u9a8c\u9a8c\u8bc1\u3002<\/li>\n<\/ol>\n

    \u4e3a\u4f55\u68c0\u6d4bDNA\uff1f<\/strong><\/h2>\n

    \u4e3a\u4ec0\u4e48\u53d8\u5f02\u68c0\u6d4b\u8981\u68c0\u6d4bDNA\u5462\uff1f\u5982\u679c\u8981\u6eaf\u5176\u6839\u6e90\uff0c\u5c31\u7ed5\u4e0d\u5f00\u4e2d\u5fc3\u6cd5\u5219\u3002\u4e2d\u5fc3\u6cd5\u5219\u662f\u6307\u9057\u4f20\u4fe1\u606f\u4eceDNA\u4f20\u9012\u7ed9RNA\uff0c\u518d\u4eceRNA\u4f20\u9012\u7ed9\u86cb\u767d\u8d28\u7684\u8f6c\u5f55\u548c\u7ffb\u8bd1\u7684\u8fc7\u7a0b\uff0c\u4ee5\u53ca\u9057\u4f20\u4fe1\u606f\u4eceDNA\u4f20\u9012\u7ed9DNA\u7684\u590d\u5236\u8fc7\u7a0b\uff0c\u8fd9\u4e2a\u8fc7\u7a0b\u51b3\u5b9a\u4e86\u86cb\u767d\u8d28\u7684\u7279\u5f02\u6027\u3002\u8fd9\u662f\u6240\u6709\u6709\u7ec6\u80de\u7ed3\u6784\u7684\u751f\u7269\u6240\u9075\u5faa\u7684\u6cd5\u5219\u3002<\/p>\n

    \"fig:\"<\/p>\n

    \u9057\u4f20\u5bc6\u7801\uff08Genetic code\uff09\u53c8\u79f0\u9057\u4f20\u7f16\u7801\uff0c\u662f\u9057\u4f20\u4fe1\u606f\u7684\u4f20\u9012\u89c4\u5219\uff0c\u5c06DNA\u6216\u4fe1\u4f7fRNA(mRNA)\u5e8f\u5217\u4ee5\u4e09\u4e2a\u6838\u82f7\u9178\u4e3a\u4e00\u7ec4\u7684\u201c\u5bc6\u7801\u5b50\uff08codon\uff09\u201d\u7ffb\u8bd1\u4e3a\u6c28\u57fa\u9178\u5e8f\u5217\uff0c\u4ee5\u7528\u4e8e\u6307\u5bfc\u86cb\u767d\u8d28\u5408\u6210\u3002<\/p>\n

    \u9057\u4f20\u5bc6\u7801\u4ee5DNA\u5bc6\u7801\u5b50\u8868\u7684\u5f62\u5f0f\u8868\u793a\uff0c\u8fd9\u662f\u56e0\u4e3a\u5728\u7ec6\u80de\u6838\u7cd6\u4f53\u5236\u9020\u86cb\u767d\u8d28\u65f6\uff0c\u6307\u5bfc\u5408\u6210\u86cb\u767d\u8d28\u7684\u662fmRNA\u3002mRNA\u7684\u5e8f\u5217\u5219\u7531\u57fa\u56e0\u7ec4DNA\u51b3\u5b9a\u3002\u968f\u7740\u8ba1\u7b97\u751f\u7269\u5b66\u548c\u57fa\u56e0\u7ec4\u5b66\u7684\u5174\u8d77\uff0c\u73b0\u4eca\u53ef\u5728DNA\u6c34\u5e73\u4e0a\u53d1\u73b0\u5927\u591a\u6570\u57fa\u56e0\uff0c\u56e0\u6b64DNA\u5bc6\u7801\u5b50\u8868\u53d8\u5f97\u6108\u52a0\u6709\u7528\u3002\u6807\u51c6\u5bc6\u7801\u5b50\u8868\u5982\u4e0b\uff1a<\/p>\n

    <\/p>\n

    \u53d8\u5f02\u7684\u6982\u5ff5\u548c\u5206\u7c7b<\/h2>\n

    \u4eba\u7c7b\u57fa\u56e0\u7ec4\u4e0a\u7684\u53d8\u5f02\u4e3b\u8981\u5206\u4e3a\u4e09\u5927\u7c7b\uff1a<\/p>\n

    1. SNV\uff08Single Nucleotide Variant\uff0c\u5355\u6838\u82f7\u9178\u53d8\u5f02\uff09\u662f\u6307\u5728\u57fa\u56e0\u7ec4\u4e2d\u53d1\u751f\u7684\u5355\u4e2a\u78b1\u57fa\u7684\u66ff\u4ee3\uff0c\u5bfc\u81f4\u4e86DNA\u5e8f\u5217\u7684\u53d8\u5316\u3002\u8fd9\u79cd\u53d8\u5f02\u662f\u6700\u5e38\u89c1\u7684\u57fa\u56e0\u7ec4\u53d8\u5f02\u7c7b\u578b\u4e4b\u4e00\uff0c\u4e5f\u662f\u4eba\u7c7b\u9057\u4f20\u53d8\u5f02\u7684\u4e3b\u8981\u5f62\u5f0f\u4e4b\u4e00\u3002\u5f53SNV\u5728\u4eba\u7fa4\u4e2d\u7684\u9891\u7387\u5927\u4e8e1%\u65f6\u88ab\u79f0\u4e3a\u5355\u6838\u82f7\u9178\u591a\u6001\u6027\uff0c\u7b80\u79f0SNP\uff1b<\/p>\n

    2. Indels\uff0c\u662fInsertion\u548cDeletion\u7684\u7b80\u79f0\uff0c\u8868\u793a\u5728\u57fa\u56e0\u7ec4\u4e0a\u67d0\u4e2a\u4f4d\u7f6e\u4e0a\u6240\u53d1\u751f\u7684\u8f83\u77ed\u957f\u5ea6\u7684\u7ebf\u6027\u7247\u6bb5\u7684\u63d2\u5165\u6216\u7f3a\u5931\uff0c\u957f\u5ea6\u901a\u5e38\u572850bp\u4ee5\u4e0b\uff0c\u8fd9\u4e2a\u957f\u5ea6\u8303\u56f4\u7684\u53d8\u5f02\u901a\u5e38\u53ef\u4ee5\u91c7\u7528Smith-Waterman\u7684\u6bd4\u5bf9\u7b97\u6cd5\u6765\u7cbe\u51c6\u83b7\u5f97\uff0c\u53ef\u4ee5\u5728\u76ee\u524d\u77ed\u8bfb\u957f\u7684\u6d4b\u5e8f\u6570\u636e\u4e2d\u8f83\u597d\u7684\u68c0\u6d4b\u51fa\u6765\uff1b<\/p>\n

    3. \u57fa\u56e0\u7ec4\u7ed3\u6784\u6027\u53d8\u5f02\uff08Structure Variations\uff0c\u7b80\u79f0SVs\uff09\uff0c\u5305\u542b\u957f\u5ea6\u572850bp\u4ee5\u4e0a\u7684\u957f\u7247\u6bb5\u5e8f\u5217\u7684\u63d2\u5165\u6216\u8005\u7f3a\u5931\u3001\u4e32\u8054\u91cd\u590d\u3001\u67d3\u8272\u4f53\u5012\u4f4d\u3002<\/p>\n

    \u4eba\u7c7b\u9057\u4f20\u53d8\u5f02\u7c7b\u578b\u4f17\u591a\uff0c\u4f46SNP\u53d8\u5f02\u53ef\u89e3\u91ca\u8fd190%\u7684\u4e2a\u4f53\u8868\u578b\u5dee\u5f02\uff0c\u56e0\u6b64\u6210\u4e3a\u4f17\u591a\u75be\u75c5\u7814\u7a76\u5173\u6ce8\u7684\u70ed\u70b9\uff0c\u4e5f\u662f\u5c0f\u679c\u7ed9\u5927\u5bb6\u5206\u4eab\u7684\u91cd\u70b9\u3002<\/p>\n

    SNP\u5728\u7fa4\u4f53\u4e2d\u7684\u53d1\u751f\u9891\u7387\u4e0d\u5c0f\u4e8e1 %\uff0c\u5176\u79cd\u7c7b\u5305\u62ec\u5355\u4e2a\u78b1\u57fa\u7684\u66ff\u6362\u3001\u63d2\u5165\u548c\u7f3a\u5931\u7b49\u7c7b\u578b\uff0c\u5176\u4e2d\u66ff\u6362\u53c8\u5206\u4e3a\u8f6c\u6362\u548c\u98a0\u6362\uff1a<\/p>\n

    \u8f6c\u6362\uff1a\u540c\u578b\u78b1\u57fa\u4e4b\u95f4\u7684\u66ff\u6362\uff0c\u5373\u560c\u5464\u4e0e\u560c\u5464( G\/A) \u3001\u5627\u5576\u4e0e\u5627\u5576(C\/ T) \u95f4\u7684\u66ff\u6362\uff1b<\/p>\n

    \u98a0\u6362\uff1a\u53d1\u751f\u5728\u560c\u5464\u4e0e\u5627\u5576(A\/T\u3001A\/C\u3001C\/G\u3001G\/T) \u4e4b\u95f4\u7684\u66ff\u6362\u3002<\/p>\n

    \u4f9d\u636e\u6392\u5217\u7ec4\u5408\u539f\u7406\uff0cSNP \u4e00\u5171\u67096\u79cd\u66ff\u6362\u60c5\u51b5\uff0c\u5373A\/ G\u3001A\/ T\u3001A\/ C\u3001C\/ G\u3001C\/ T \u548cG\/ T \uff0c\u4f46\u4e8b\u5b9e\u4e0a\uff0c\u7531\u4e8e\u4e0d\u540c\u78b1\u57fa\u7684\u5316\u5b66\u7ed3\u6784\u548c\u5206\u5b50\u7279\u6027\u6709\u5dee\u5f02\uff0c\u5bfc\u81f4\u8f6c\u6362\u7684\u53d1\u751f\u9891\u7387\u591a\u4e8e\u98a0\u6362\uff1b\u5728\u8f6c\u6362\u5f53\u4e2d\uff0cC\/T \u8f6c\u6362\u53c8\u591a\u4e8eG\/A\u8f6c\u6362\u3002\u4eba\u7c7b\u57fa\u56e0\u7ec4\u4e0a\u5171\u6709\u7ea6300\u4e07\u4e2aSNP\u4f4d\u70b9\uff0c\u6bcf\u9694100\u81f3300\u4e2a\u78b1\u57fa\u5c31\u4f1a\u53d1\u751f\u4e00\u5904SNP\u53d8\u5f02\u3002\u6bcf3\u4e2aSNP\u53d8\u5f02\u4e2d\u67092\u4e2a\u4f1a\u662fC\/T\u8f6c\u6362\u3002<\/p>\n

    SNP\u7684\u529f\u80fd\u5206\u7c7b<\/h2>\n

    \u6839\u636eSNP\u53d8\u5f02\u7684\u53d1\u751f\u662f\u5426\u4f1a\u5f71\u54cd\u4e2a\u4f53\u8868\u578b\uff0c\u6211\u4eec\u53ef\u5c06\u5176\u5206\u4e3a2\u7c7b\uff1a<\/p>\n

    \u540c\u4e49\u7a81\u53d8\uff08Synonymous Mutation\uff09<\/strong>\u662f\u6307\u5728\u57fa\u56e0\u7ec4\u4e2d\u53d1\u751f\u7684\u4e00\u79cd\u53d8\u5f02\uff0c\u5bfc\u81f4\u4e00\u4e2a\u5bc6\u7801\u5b50\u88ab\u53e6\u4e00\u4e2a\u7f16\u7801\u76f8\u540c\u6c28\u57fa\u9178\u7684\u5bc6\u7801\u5b50\u66ff\u4ee3\uff0c\u4ece\u800c\u4e0d\u4f1a\u6539\u53d8\u86cb\u767d\u8d28\u7684\u6c28\u57fa\u9178\u5e8f\u5217\u3002<\/p>\n

    \u4e00\u822c\u6765\u8bf4\uff0c\u540c\u4e49\u7a81\u53d8\u4ea7\u751f\u7684\u53d8\u5f02\u662f\u65e0\u5bb3\u7684\uff0c\u56e0\u4e3a\u5b83\u4eec\u901a\u5e38\u4e0d\u4f1a\u5f71\u54cd\u86cb\u767d\u8d28\u7684\u7ed3\u6784\u548c\u529f\u80fd\u3002\u7136\u800c\uff0c\u540c\u4e49\u7a81\u53d8\u4e5f\u53ef\u80fd\u5bf9\u57fa\u56e0\u8868\u8fbe\u548c\u8c03\u63a7\u4ea7\u751f\u5f71\u54cd\u3002\u4f8b\u5982\uff0c\u67d0\u4e9b\u540c\u4e49\u7a81\u53d8\u53ef\u80fd\u4f1a\u5bfc\u81f4mRNA\u7684\u7a33\u5b9a\u6027\u3001\u526a\u63a5\u6216\u8f6c\u8fd0\u53d1\u751f\u6539\u53d8\uff0c\u4ece\u800c\u5f71\u54cd\u86cb\u767d\u8d28\u7684\u8868\u8fbe\u6c34\u5e73\u3002\u6b64\u5916\uff0c\u867d\u7136\u540c\u4e49\u7a81\u53d8\u4e0d\u76f4\u63a5\u6539\u53d8\u6c28\u57fa\u9178\u5e8f\u5217\uff0c\u4f46\u5b83\u4eec\u53ef\u80fd\u4f1a\u5f71\u54cd\u86cb\u767d\u8d28\u7684\u901f\u5ea6\u3001\u6298\u53e0\u80fd\u529b\u6216\u4e0e\u5176\u4ed6\u5206\u5b50\u7684\u76f8\u4e92\u4f5c\u7528\u3002<\/p>\n

    \u975e\u540c\u4e49\u7a81\u53d8\uff08Non-synonymous Mutation\uff09<\/strong>\u662f\u6307\u5728\u57fa\u56e0\u7ec4\u4e2d\u53d1\u751f\u7684\u4e00\u79cd\u53d8\u5f02\uff0c\u5bfc\u81f4\u4e00\u4e2a\u5bc6\u7801\u5b50\u88ab\u53e6\u4e00\u4e2a\u7f16\u7801\u4e0d\u540c\u6c28\u57fa\u9178\u7684\u5bc6\u7801\u5b50\u66ff\u4ee3\uff0c\u4ece\u800c\u6539\u53d8\u4e86\u86cb\u767d\u8d28\u7684\u6c28\u57fa\u9178\u5e8f\u5217\uff0c\u8fd9\u79cd\u6539\u53d8\u5e38\u662f\u5bfc\u81f4\u751f\u7269\u6027\u72b6\u6539\u53d8\u7684\u76f4\u63a5\u539f\u56e0\u3002<\/p>\n

    \u975e\u540c\u4e49\u7a81\u53d8\u53c8\u53ef\u4ee5\u5206\u4e3a\u9519\u4e49\u7a81\u53d8\u3001\u65e0\u4e49\u7a81\u53d8\u4e24\u79cd\u7c7b\u578b\u3002\u9519\u4e49\u7a81\u53d8\u662f\u6307\u7f16\u7801\u7684\u67d0\u79cd\u6c28\u57fa\u9178\u7684\u5bc6\u7801\u5b50\u53d8\u6210\u53e6\u4e00\u79cd\u6c28\u57fa\u9178\u5bc6\u7801\u5b50\uff0c\u4f7f\u5f97\u591a\u80bd\u94fe\u7684\u6c28\u57fa\u9178\u79cd\u7c7b\u548c\u5e8f\u5217\u53d1\u751f\u6539\u53d8\uff0c\u9519\u4e49\u7a81\u53d8\u901a\u5e38\u4f1a\u4f7f\u591a\u80bd\u94fe\u4e27\u5931\u539f\u6709\u529f\u80fd\u3002\u65e0\u4e49\u7a81\u53d8\u662f\u6307\u7f16\u7801\u67d0\u4e00\u6c28\u57fa\u9178\u7684\u5bc6\u7801\u5b50\u53d8\u6210\u7ec8\u6b62\u5bc6\u7801\u5b50UAA\u3001UGA\u6216UAG\uff0c\u5bfc\u81f4\u591a\u80bd\u94fe\u7ffb\u8bd1\u4e2d\u6b62\uff0c\u4ece\u800c\u5f62\u6210\u4e00\u6761\u4e0d\u5b8c\u6574\u7684\u591a\u80bd\u94fe\uff0c\u4f7f\u86cb\u767d\u8d28\u7684\u751f\u7269\u6d3b\u6027\u548c\u529f\u80fd\u6539\u53d8\u3002<\/p>\n

    \u901a\u5e38\u6211\u4eec\u8fd8\u53ef\u6309\u5e94\u7528\u5bf9SNP\u8fdb\u884c\u5206\u7c7b\uff0c\u4ee5\u4e0b\u662f\u5e38\u89c1\u7684\u51e0\u7c7b\uff1a<\/p>\n

    \uff081\uff09\u4e2a\u4f53\u8bc6\u522bSNP\uff08IISNPs\uff09<\/p>\n

    SNP\u4f5c\u4e3a\u7b2c\u4e09\u4ee3\u9057\u4f20\u6807\u8bb0\uff0c\u5177\u6709\u8f83\u9ad8\u9057\u4f20\u7a33\u5b9a\u6027\uff0c\u51e0\u4e4e\u4e3a\u96f6\u7684\u5faa\u73af\u7a81\u53d8\u7387\u3001\u6240\u9700\u6269\u589e\u7247\u6bb5\u957f\u5ea6\u77ed\u3001\u904d\u5e03\u5168\u57fa\u56e0\u7ec4\uff0c\u66f4\u52a0\u9002\u7528\u4e8e\u9ad8\u5ea6\u964d\u89e3DNA\u6837\u672c\u7684\u9274\u5b9a\u3002\u4f46\u662f\u7531\u4e8eSNP\u4e3a\u53cc\u7b49\u4f4d\u57fa\u56e0\uff0c\u5176\u591a\u6001\u6027\u7684\u4fe1\u606f\u542b\u91cf\u4f4e\uff0c\u9700\u8981\u8054\u5408\u591a\u4e2a\u4f4d\u70b9\u624d\u80fd\u8fbe\u5230\u4e2a\u4f53\u8bc6\u522b\u7684\u8981\u6c42\u3002\u5728\u4e2a\u4f53\u8bc6\u522bSNP\u4f4d\u70b9\u7684\u7b5b\u9009\u7814\u7a76\u4e2d\uff0c\u8036\u9c81\u5927\u5b66\u7684Kidd\u5b9e\u9a8c\u5ba4\u5f00\u5c55\u4e86\u7cfb\u7edf\u6df1\u5165\u7684\u7814\u7a76\uff0c\u5e76\u4e8e2006\u5e74\u754c\u5b9a\u4e86\u7b5b\u9009\u4e2a\u4f53\u8bc6\u522bSNP\u4f4d\u70b9\u7684\u6807\u51c6\uff1a1.\u7b49\u4f4d\u57fa\u56e0\u7684\u5e73\u5747\u6742\u5408\u5ea6>=0.4\uff1b2.\u4e0d\u540c\u4eba\u7fa4\u95f4\u7b49\u4f4d\u57fa\u56e0\u9891\u7387\u7684\u5dee\u522b\u5c0f\uff0cFst<0.06\uff1b3.\u7b5b\u9009\u7684SNP\u4f4d\u70b9\u4e4b\u95f4\u4e92\u4e0d\u8fde\u9501\u3002<\/p>\n

    \uff082\uff09\u7956\u5148\u4fe1\u606fSNP\uff08AIMSNPs\uff09<\/p>\n

    \u5728\u4eba\u7c7b\u57fa\u56e0\u7ec4\u7684SNPs\u4e2d\u6709\u4e00\u90e8\u5206\u662f\u4e0e\u79cd\u65cf\u8d77\u6e90\u76f8\u5173\u7684\uff0c\u4e0d\u540c\u4eba\u7fa4\u4e4b\u95f4\u57fa\u56e0\u9891\u7387\u5dee\u5f02\u975e\u5e38\u5927\u7684\u591a\u6001\u6027\u57fa\u56e0\u4f4d\u70b9\uff0c\u88ab\u79f0\u4e3a\u7956\u5148\u4fe1\u606f\u6807\u8bb0-AIMs\uff08Ancestry Informative Markers\uff09. AIMs\u5305\u542b\u6709\u79cd\u7fa4\u7ed3\u6784\u3001\u79cd\u5185\u548c\u79cd\u95f4\u5dee\u5f02\u76f8\u5173\u4fe1\u606f\uff0c\u53ef\u4ee5\u5b9a\u91cf\u7684\u4f30\u8ba1\u67d0\u4e2a\u4f53\u53ef\u80fd\u7684\u5730\u57df\u79cd\u65cf\u6765\u6e90\u3002\u672c\u79d1\u8bfe\u7a0b\u4e2d\u6d89\u53ca\u7684AIMs\u7684\u7b5b\u9009\u6807\u51c6[6]\uff1a1.\u7b5b\u9009\u51fa\u6765\u7684\u4f4d\u70b9\u6784\u5efa\u7684\u4f53\u7cfb\u7b26\u5408H-W\u5e73\u8861\u548c\u8fde\u9501\u5e73\u8861\uff1b2.\u4eba\u7fa4\u7279\u5f02\u6027\u4f4d\u70b9\u7684\u9009\u62e9\u4e2d\u6b21\u7b49\u4f4d\u57fa\u56e0\u9891\u7387\uff08MAF\uff09>0.01\uff1b3.\u7b49\u4f4d\u57fa\u56e0\u9891\u7387\u5dee\u5f02\uff08AFD\uff09>0.5;4.\u7fa4\u4f53\u9057\u4f20\u5206\u5316\u6307\u6570Fst>0.3\uff1b<\/p>\n

    \uff083\uff09\u8868\u578b\u76f8\u5173SNPs<\/p>\n

    SNP\u662f\u5f71\u54cd\u57fa\u56e0\u8868\u8fbe\u548c\u529f\u80fd\u7684\u6700\u4e3b\u8981\u9057\u4f20\u6807\u8bb0\u7c7b\u578b\uff0c\u80fd\u591f\u9884\u6d4b\u4e2a\u4f53\u7684\u5916\u90e8\u53ef\u89c6\u5316\u7279\u5f81\uff0c\u6bd4\u5982\u8eab\u9ad8\u3001\u80a4\u8272\u3001\u77b3\u5b54\u989c\u8272\u3001\u53d1\u8272\u3001\u8138\u90e8\u5f62\u6001\u7b49\u3002<\/p>\n

    \uff084\uff09\u8fde\u9501\u4fe1\u606f\u6027SNP<\/p>\n

    \u7ebf\u7c92\u4f53\uff08mtDNA\uff09\u53caY\u67d3\u8272\u4f53\u4e0a\u7684\u9057\u4f20\u6807\u8bb0\u5e26\u6709\u5bb6\u65cf\u7279\u5f81\uff0c\u53c8\u88ab\u79f0\u4e3a\u201c\u8c31\u7cfb\u6807\u8bb0\u201d\u3002Y\u67d3\u8272\u4f53\u4f5c\u4e3a\u7236\u7cfb\u9057\u4f20\uff0c\u5177\u6709\u5355\u500d\u578b\u4fdd\u6301\u5b8c\u6574\u3001\u7a81\u53d8\u7387\u4f4e\u3001\u9057\u4f20\u7a33\u5b9a\u7684\u7279\u70b9\uff0c\u6240\u4ee5\u9002\u5408\u7528\u4f5c\u6cd5\u533b\u9057\u4f20\u6807\u8bb0\uff0c\u4e5f\u53ef\u4ee5\u7528\u4e8e\u4eba\u7c7b\u8fdb\u5316\u4e2d\u7684\u7269\u79cd\u8d77\u6e90\u3001\u7269\u79cd\u8fc1\u79fb\u4ee5\u53ca\u9057\u4f20\u63a8\u65ad\u3002\u7531\u4e8e\u96c6\u4e2d\u5728mtDNA\u548cY\u67d3\u8272\u4f53\u4e0a\u7684SNPs\uff0c\u5bf9\u4e8e\u4e2a\u4f53\u8bc6\u522b\u80fd\u529b\u8f83\u4f4e\uff0c\u6240\u4ee5\u9650\u5236\u4e86\u8fd9\u4e00\u7c7bSNPs\u7684\u5e94\u7528\u8303\u56f4\u3002<\/p>\n

    SNP\u4e0e\u8868\u578b\u7684\u5173\u7cfb<\/h2>\n

    \u8868\u578b\uff08phenotype\uff09\uff0c\u53c8\u79f0\u6027\u72b6\uff0c\u662f\u6307\u4e00\u4e2a\u751f\u7269\u4f53\uff08\u6216\u7ec6\u80de\uff09\u53ef\u4ee5\u89c2\u5bdf\u5230\u7684\u6027\u72b6\u6216\u7279\u5f81\uff0c\u662f\u7279\u5b9a\u7684\u57fa\u56e0\u578b\u4e0e\u73af\u5883\u76f8\u4e92\u4f5c\u7528\u7684\u7ed3\u679c\u3002\u5305\u62ec\u4e2a\u4f53\u5f62\u6001\u3001\u529f\u80fd\u7b49\u5404\u65b9\u9762\u7684\u8868\u73b0\uff0c\u5982\u8eab\u9ad8\u3001\u80a4\u8272\u3001\u8840\u578b\u3001\u9176\u6d3b\u529b\u3001\u836f\u7269\u8010\u53d7\u529b\u4e43\u81f3\u6027\u683c\u7b49\u3002\u7ecf\u5178\u9057\u4f20\u5b66\uff08genetics\uff09\u662f\u6307\u7531\u4e8e\u57fa\u56e0\u5e8f\u5217\u6539\u53d8\uff08\u5982\u57fa\u56e0\u7a81\u53d8\u7b49\uff09\u6240\u5f15\u8d77\u7684\u57fa\u56e0\u529f\u80fd\u7684\u53d8\u5316\uff0c\u4ece\u800c\u5bfc\u81f4\u8868\u578b\u53d1\u751f\u53ef\u9057\u4f20\u7684\u6539\u53d8\uff0c\u57fa\u56e0\u5bf9\u5f62\u72b6\u7684\u63a7\u5236\u53ef\u4ee5\u901a\u8fc7\u9176\u7684\u8868\u8fbe\u6216\u8005\u86cb\u767d\u8d28\u7684\u5408\u6210\u6765\u5b9e\u73b0\uff0c\u751f\u7269\u7684\u8868\u578b\u4e3b\u8981\u901a\u8fc7\u86cb\u767d\u8d28\u6765\u8868\u73b0\u3002SNP\u4e5f\u51b3\u5b9a\u4e86\u751f\u7269\u8868\u578b\u7684\u591a\u6837\u6027\u3002\u800c\u8868\u89c2\u9057\u4f20\u5b66\uff08epigenetics\uff09\u5219\u662f\u6307\u5728DNA\u5e8f\u5217\u6ca1\u6709\u53d1\u751f\u6539\u53d8\u7684\u60c5\u51b5\u4e0b\uff0c\u57fa\u56e0\u529f\u80fd\u53d1\u751f\u4e86\u53ef\u9057\u4f20\u7684\u53d8\u5316\uff0c\u5e76\u6700\u7ec8\u5bfc\u81f4\u4e86\u8868\u578b\u7684\u53d8\u5316\u3002<\/p>\n

    SNP\u662f\u5f71\u54cd\u57fa\u56e0\u8868\u8fbe\u548c\u529f\u80fd\u7684\u6700\u4e3b\u8981\u9057\u4f20\u6807\u8bb0\u7c7b\u578b\uff0c\u4e0d\u4ec5\u80fd\u591f\u9884\u6d4b\u4e2a\u4f53\u7684\u5916\u90e8\u53ef\u89c6\u5316\u7279\u5f81\uff0c\u8fd8\u53ef\u4ee5\u5bf9\u4e2a\u4f53\u7684\u8425\u517b\u4ee3\u8c22\u80fd\u529b\u4ee5\u53ca\u75be\u75c5\u98ce\u9669\u8fdb\u884c\u9884\u6d4b\u3002<\/p>\n

    \u4e3a\u4e86\u66f4\u76f4\u89c2\u7684\u611f\u53d7\uff0c\u5c0f\u679c\u4e3e\u4f8b\u4e00\u4e9b\u63a7\u5236\u4eba\u7c7b\u4e73\u7cd6\u4ee3\u8c22\u80fd\u529b\u3001\u8fd0\u52a8\u80fd\u529b\u4ee5\u53ca\u8033\u57a2\u7c7b\u578b\u7684SNP\u5982\u4e0b\uff0c\u611f\u5174\u8da3\u7684\u5c0f\u4f19\u4f34\u4eec\u53ef\u4ee5\u53bb\u67e5\u9605\u8d44\u6599\u54e6\uff1a<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
    \u57fa\u56e0<\/strong><\/th>\nSNP<\/strong><\/th>\n\u57fa\u56e0\u578b<\/strong><\/th>\n\u8868\u578b<\/strong><\/th>\n<\/tr>\n<\/thead>\n
    MCM6<\/td>\nrs4988235<\/td>\nGG<\/td>\n\u4e73\u7cd6\u4e0d\u8010\u53d7<\/td>\n<\/tr>\n
    MCM6<\/td>\nrs4988235<\/td>\nAA<\/td>\n\u4e73\u7cd6\u8010\u53d7<\/td>\n<\/tr>\n
    MCM6<\/td>\nrs4988235<\/td>\nGA<\/td>\n\u4e73\u7cd6\u8010\u53d7<\/td>\n<\/tr>\n
    MCM6<\/td>\nrs182549<\/td>\nCC<\/td>\n\u4e73\u7cd6\u4e0d\u8010\u53d7<\/td>\n<\/tr>\n
    MCM6<\/td>\nrs182549<\/td>\nTT<\/td>\n\u4e73\u7cd6\u8010\u53d7<\/td>\n<\/tr>\n
    MCM6<\/td>\nrs182549<\/td>\nCT<\/td>\n\u4e73\u7cd6\u8010\u53d7<\/td>\n<\/tr>\n
    ACTN3<\/td>\nrs1815739<\/td>\nTT<\/td>\n\u8010\u529b\u578b<\/td>\n<\/tr>\n
    ACTN3<\/td>\nrs1815739<\/td>\nCC<\/td>\n\u7206\u53d1\u578b<\/td>\n<\/tr>\n
    ACTN3<\/td>\nrs1815739<\/td>\nCT<\/td>\n\u7206\u53d1\u578b<\/td>\n<\/tr>\n
    ALDH2<\/td>\nrs671<\/td>\nGG<\/td>\n\u559d\u9152\u4e0d\u4f1a\u6709\u6216\u6709\u8f83\u8f7b\u7684\u8138\u7ea2\u53cd\u5e94<\/td>\n<\/tr>\n
    ALDH2<\/td>\nrs671<\/td>\nAA<\/td>\n\u559d\u9152\u4f1a\u6709\u8138\u7ea2\u53cd\u5e94<\/td>\n<\/tr>\n
    ALDH2<\/td>\nrs671<\/td>\nAG<\/td>\n\u559d\u9152\u4e0d\u4f1a\u6709\u6216\u6709\u8f83\u8f7b\u7684\u8138\u7ea2\u53cd\u5e94<\/td>\n<\/tr>\n
    ABCC11<\/td>\nrs17822931<\/td>\nCC<\/td>\n\u5f88\u53ef\u80fd\u4e3a\u6e7f\u578b\u8033\u57a2<\/td>\n<\/tr>\n
    ABCC11<\/td>\nrs17822931<\/td>\nTT<\/td>\n\u5f88\u53ef\u80fd\u4e3a\u5e72\u578b\u8033\u57a2<\/td>\n<\/tr>\n
    ABCC11<\/td>\nrs17822931<\/td>\nTC<\/td>\n\u5f88\u53ef\u80fd\u4e3a\u6e7f\u578b\u8033\u57a2<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

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