{"id":12170,"date":"2012-11-22T09:20:30","date_gmt":"2012-11-22T01:20:30","guid":{"rendered":"https:\/\/case.ntu.edu.tw\/blog\/?p=12170"},"modified":"2017-08-07T09:04:01","modified_gmt":"2017-08-07T01:04:01","slug":"%e3%80%90%e6%8e%a2%e7%b4%a2%e5%85%ab%e3%80%91%e7%95%b6%e7%94%9f%e7%89%a9%e9%81%87%e8%a6%8b%e6%95%b8%e5%ad%b8-2","status":"publish","type":"post","link":"https:\/\/case.ntu.edu.tw\/blog\/?p=12170","title":{"rendered":"\u3010\u63a2\u7d22\u516b\u3011\u7576\u751f\u7269\u9047\u898b\u6578\u5b78"},"content":{"rendered":"<h2 style=\"text-align: center;\"><strong><span style=\"color: #993300;\">\u7b2c\u4e09\u8b1b\u2027\u7279\u7a3f<\/span><\/strong><\/h2>\n<p><strong><span style=\"color: #333399;\">\u25a0\u00a0\u300c\u8331\u9e97\u8449\uff1a\u7f85\u5bc6\u6b50\u554a\uff01\u8acb\u4f60\u8d77\u8a93\uff1a\u9858\u505a\u6211\u4e00\u751f\u4e0d\u8b8a\u7684\u611b\u4eba\u3002\u300d\u4f46\u6232\u5287\u5916\u7684\u4e16\u754c\uff0c\u611b\u60c5\u771f\u7684\u80fd\u5920\u4e99\u53e4\u4e0d\u8b8a\u55ce\uff1f<\/span><\/strong><\/p>\n<figure id=\"attachment_12144\" aria-describedby=\"caption-attachment-12144\" style=\"width: 332px\" class=\"wp-caption alignleft\"><a href=\"http:\/\/case.ntu.edu.tw\/blog\/?attachment_id=12144\" rel=\"attachment wp-att-12144\"><img fetchpriority=\"high\" decoding=\"async\" class=\"size-full wp-image-12144 \" title=\"CA02220\" src=\"http:\/\/case.ntu.edu.tw\/blog\/wp-content\/uploads\/2012\/11\/CA02220.jpg\" alt=\"\" width=\"332\" height=\"417\" srcset=\"https:\/\/case.ntu.edu.tw\/blog\/wp-content\/uploads\/2012\/11\/CA02220.jpg 369w, https:\/\/case.ntu.edu.tw\/blog\/wp-content\/uploads\/2012\/11\/CA02220-239x300.jpg 239w\" sizes=\"(max-width: 332px) 100vw, 332px\" \/><\/a><figcaption id=\"caption-attachment-12144\" class=\"wp-caption-text\">\u5716\u7247\u4f86\u6e90: Scott Morgan\u2502Getty Images<\/figcaption><\/figure>\n<p><strong>\u64b0\u6587<\/strong>\u2502\u90ed\u51a0\u5ef7<\/p>\n<p><strong>\u7f85\u5bc6\u6b50\u8207\u8331\u9e97\u8449\u71b1\u6200\u767e\u5206\u6bd4\u9810\u6e2c<\/strong><\/p>\n<p>\u5404\u4f4d\u76ee\u524d\u6b63\u8655\u65bc\u7f85\u5bc6\u6b50\u6216\u8331\u9e97\u8449\u7684\u60c5\u5883\uff0c\u7d66\u81ea\u5df1\u7684\u6200\u60c5\u6253\u500b\u5206\u6578\u5427\uff01\u57282012\u5e74\u768410\u670827\u65e5\u4e0b\u5348\uff0c\u81fa\u5927\u61c9\u529b\u6240\u7684\u570b\u969b\u6703\u8b70\u5ef3\uff0c\u6d0b\u6ea2\u8457\u5e78\u798f\u7684\u6c23\u606f\u3002\u9673\u79c0\u7199\u8001\u5e2b\u7528\u300c\u7f85\u5bc6\u6b50\u8207\u8331\u9e97\u8449\u300d\u7684\u6545\u4e8b\uff0c\u4f86\u8a6e\u91cb\u9019\u4e00\u5834\u63a2\u7d22\u8b1b\u5ea7\u300c\u7576\u751f\u7269\u9047\u898b\u6578\u5b78\u300d\u3002\u5982\u679c\u611b\u60c5\u53ef\u4ee5\u88ab\u91cf\u5316\uff0c\u6211\u5011\u6bcf\u65e5\u5728\u7b46\u8a18\u672c\u4e0b\u7d00\u9304\u611b\u60c5\u7684\u5206\u6578\uff0c\u7576\u5206\u6578\u8d85\u904e\u4e00\u500b\u5b9a\u503c\uff08\u598260\u5206\uff09\uff0c\u5247\u767b\u8a18\u7576\u65e5\u70ba\u611b\uff0c\u53cd\u4e4b\u5247\u70ba\u4e0d\u611b\uff1b\u6301\u7e8c\u8a18\u9304\u4e00\u6bb5\u6642\u9593\uff0c\u7d93\u904e\u7d71\u8a08\u5f8c\uff0c\u6211\u5011\u53ef\u4ee5\u5f97\u5230\u6bcf\u5929\u81f3\u9694\u5929\u71b1\u6200\u72c0\u614b\uff08\u6b64\u4f8b\u662f\u611b\u8207\u4e0d\u611b\u5169\u985e\uff0c\u4f46\u53ef\u4ee5\u518d\u7d30\u5206\u6210\u5169\u985e\u4ee5\u4e0a\uff09\u8b8a\u5316\u4e4b\u6a5f\u7387\u7684\u300c\u99ac\u53ef\u592b\u77e9\u9663\u300d\uff1b\u5982\u6b64\u4e00\u4f86\uff0c<strong>\u53ea\u8981\u6211\u5011\u77e5\u9053\u4eca\u5929\u7684\u611b\u8207\u4e0d\u611b\u4e4b\u6a5f\u7387\uff0c\u4e58\u4e0a\u9019\u77e9\u9663\u5c31\u53ef\u4ee5\u5f97\u5230\u660e\u65e5\u53ef\u80fd\u70ba\u611b\u8207\u4e0d\u611b\u7684\u6a5f\u7387\u70ba\u4f55\u3002\u7576\u6642\u9593\u5920\u4e45\u6642\uff0c\u6211\u5011\u53ef\u4ee5\u767c\u73fe\u611b\u8207\u4e0d\u611b\u7684\u6a5f\u7387\u8da8\u5411\u4e00\u500b\u5b9a\u503c\uff0c\u4ee3\u8868\u611b\u8207\u4e0d\u611b\u4e4b\u767e\u5206\u6bd4\u3002\u9019\u5c31\u662f\u300c\u99ac\u53ef\u592b\u93c8\u5e73\u8861\u5b9a\u5f8b\u300d\u5728\u4eba\u751f\u4e0a\u7684\u904b\u7528\u3002<\/strong>\u751a\u81f3\u4e5f\u53ef\u4ee5\u7576\u4f5c\u7d50\u5a5a\u8207\u5426\u7684\u53c3\u8003\u8cc7\u8a0a\uff0c\u5018\u82e5\u7d93\u904e100\u5929\u5f8c\uff0c\u5728\u71b1\u6200\u767e\u5206\u6bd4\u4e2d\uff0c\u300e\u611b\u300f\u72c0\u614b\u6240\u4f54\u7684\u6bd4\u4f8b\u6c92\u6709\u4e03\u6210\u4e94\u4ee5\u4e0a\uff0c\u4e5f\u8a31\uff0c\u9019\u5c0d\u4f73\u5076\u53ef\u4ee5\u66ab\u7de9\u6b65\u5411\u7d05\u6bef\u7684\u53e6\u4e00\u7aef\u3002<!--more--><\/p>\n<p><strong>\u5982\u679c\u300c\u611b\u300d\u662f\u7531\u57fa\u56e0\u6240\u63a7\u5236\u7684\u6027\u72c0\uff0c\u6211\u5011\u4ee5A<\/strong><strong>\u53caa<\/strong><strong>\u4f86\u8868\u793a\u63a7\u5236\u300c\u611b\u300d\u6027\u72c0\u4e4b\u300c\u7b49\u4f4d\u5c0d\u5076\u57fa\u56e0\uff08alleles<\/strong><strong>\uff09\u300d\u3002<\/strong>\u9019\u9ebc\u4e00\u4f86\uff0c\u5047\u8a2d\u4eca\u5929\u6709200\u5c0d\u7537\u5973\uff0c\u5176\u4e2d8\u5c0d\u662f\u300c\u4e0d\u611b\uff08aa\uff09\u300d\uff0c\u800c192\u5c0d\u662f\u300c\u611b\uff08AA\u3001Aa\uff09\u300d\u3002\u800c\u300c\u611b\u300d\u7576\u4e2d\uff0c\u6709128\u5c0d\u662fAA\uff0c Aa\u662f64\u5c0d\u3002\u5982\u6b64\uff0c\u6574\u500b\u300c\u65cf\u7fa4\u57fa\u56e0\u6c60\uff08gene pool\uff09\u300d\u7576\u4e2d\uff0cA\u6709\uff3b128\u00d72+64\u00d71=\uff3d320\u500b\uff0ca\u6709\uff3b8\u00d72+64\u00d71=\uff3d80\u500b\u3002\u56e0\u6b64\u6211\u5011\u53ef\u4ee5\u7b97\u51faA\u548ca\u5728\u6574\u500b\u65cf\u7fa4\u4e2d\u7684\u57fa\u56e0\u983b\u7387\u5206\u5225\u662f\uff1a80%\u548c20%\u3002<\/p>\n<p>\u82f1\u570b\u6578\u5b78\u5bb6G.H. Hardy\u548c\u5fb7\u570b\u7269\u7406\u5b78\u5bb6W. Weinberg\u767c\u73fe\u7576\u57fa\u56e0A\u8207a\u4e4b\u983b\u7387\u70bap\u53caq\u6642\uff0c\u5247\u57fa\u56e0\u578b\u983b\u7387\u5206\u5e03\u300cAA:Aa:aa=p<sup>2<\/sup>:2pq:q<sup>2<\/sup>\u300d\u4e14\u6b64\u6a5f\u7387\u6703\u4ee3\u4ee3\u76f8\u50b3\u4fdd\u6301\u4e0d\u8b8a\uff0c\u9019\u5c31\u662f\u8457\u540d\u7684<strong>\u300c\u54c8\u6eab\u5e73\u8861\u5b9a\u5f8b\uff08<\/strong><strong>Hardy-Weinberg Law of Equilibrium<\/strong><strong>\uff09\u300d<\/strong>\u3002\u54c8\u6eab\u5e73\u8861\u5b9a\u5f8b\u5c0e\u51fa\u6709\u8a31\u591a\u65b9\u6cd5\uff0c\u6b64\u6b21\u6211\u5011\u5229\u7528\u99ac\u53ef\u592b\u93c8\u4f86\u63a8\u5c0e\u57fa\u56e0\u578b\u983b\u7387\u5206\u5e03\u5728\u7d93\u904en\u4ee3\u5f8c\u6703\u8da8\u5411\u5e73\u8861\u4e0d\u518d\u6539\u8b8a<strong>\u3002<\/strong><\/p>\n<p>\u53ef\u662f\u54c8\u6eab\u5b9a\u5f8b\u4e0d\u4e00\u5b9a\u6703\u6210\u7acb\u3002\u5b83\u5fc5\u9808\u8981\u6eff\u8db3\u4e0b\u5217\u7684\u689d\u4ef6\uff1a\u300c\u65cf\u7fa4\u6c92\u6709\u907a\u50b3\u6f02\u8b8a\uff08genetic drift\uff09\u3001\u65cf\u7fa4\u4e2d\u500b\u9ad4\u96a8\u6a5f\u4ea4\u914d\uff08random mating\uff09\u3001\u6c92\u6709\u7a81\u8b8a\u3001\u6c92\u6709\u5929\u64c7\uff08fitness\uff09\u3001\u6c92\u6709\u57fa\u56e0\u6d41\u52d5\uff08gene flow\uff09\u5982\u65cf\u7fa4\u6df7\u5408\uff08admixture\uff09\u3002\u300d\u5982\u679c\u65cf\u7fa4\u4e2d\uff0c\u82e5\u6709\u90e8\u5206\u500b\u9ad4\u56e0\u70ba\u6578\u91cf\u904e\u5c11\uff0c\u9020\u6210\u7b49\u4f4d\u57fa\u56e0\u6c92\u6709\u907a\u50b3\u7d66\u4e0b\u4e00\u4ee3\uff0c\u90a3\u5c31\u53ef\u80fd\u7522\u751f\u300c\u907a\u50b3\u6f02\u8b8a\uff08genetic drift\uff09\u300d\uff0c\u4f7f\u5f97\u67d0\u500b\u7b49\u4f4d\u57fa\u56e0\uff0c\u5f9e\u65cf\u7fa4\u4e2d\u5b8c\u5168\u6d88\u5931\uff1b\u5982\uff1a\u60c5\u4fb6\u9593\u660e\u660e\u6709\u76f8\u611b\u7684\u60c5\u612b\uff0c\u56e0\u70ba\u89c0\u5bdf\u7684\u6642\u9593\u592a\u77ed\uff0c\u6216\u4e0d\u5920\u5168\u9762\u6027\uff0c\u53ea\u72f9\u9698\u5728\u9001\u79ae\u7269\u7684\u6b21\u6578\u8207\u8cb4\u91cd\uff0c\u800c\u5ffd\u7565\u6389\u7121\u5f62\u7684\u60c5\u611f\u95dc\u61f7\uff0c\u5c31\u6709\u53ef\u80fd\u8aa4\u5224\u5c0d\u65b9\u7684\u771f\u5fc3\u3002\u6b64\u5916\uff0c\u65cf\u7fa4\u9593\u7684\u500b\u9ad4\u8981\u300c\u96a8\u6a5f\u4ea4\u914d\u300d\u4e5f\u76f8\u7576\u91cd\u8981\uff0c\u4e0d\u80fd\u5920\u6709\u9580\u7576\u6236\u7684\u64c7\u5076\u884c\u70ba\uff0c\u4e5f\u5fc5\u9808\u300c\u6c92\u6709\u8fd1\u89aa\u7e41\u6b96\u300d\u7684\u554f\u984c\uff1b\u9019\u6703\u9020\u6210\u67d0\u4e9b\u57fa\u56e0\u56e0\u70ba\u7279\u610f\u7684\u9078\u64c7\u800c\u6d88\u5931\u3002\u300c\u6c92\u6709\u7a81\u8b8a\u300d\uff0c\u5c31\u611b\u60c5\u4f86\u8aaa\uff0c\u5c31\u662f\u4e0d\u53ef\u4ee5\u6709\u300c\u8b8a\u5fc3\u300d\u7684\u4e8b\u60c5\u767c\u751f\u3002\u9019\u6703\u70ba\u57fa\u56e0\u983b\u7387\u589e\u6dfb\u8b8a\u6578\u3002\u7576\u7136\uff0c\u4e5f\u4e0d\u80fd\u5920\u6709\u300c\u5929\u64c7\uff08natural selection\uff09\u300d\u5018\u82e5\u6709\u5929\u64c7\u7684\u60c5\u6cc1\uff0c\u82e5\u8981\u5957\u7528\u54c8\u6eab\u5b9a\u5f8b\uff0c\u5fc5\u9808\u8981\u52a0\u4ee5\u4fee\u6b63\u3002\u7d93\u904e\u904b\u7b97\u5f8c\u6211\u5011\u767c\u73fe\uff0c\u7576\u6211\u5011\u627e\u5230\u65b0\u7684\u5e73\u8861\u6642\uff0cA\u6216a\u5c07\u6703\u4f9d\u7167\u5929\u64c7\u7684\u9078\u64c7\uff0c\u800c\u5728\u6700\u5f8c\u4f7f\u5f97\u4e8c\u8005\u4e4b\u4e00\u6d88\u5931\u3002<\/p>\n<p><strong>\u611b\u60c5\u80cc\u5f8c\u7684\u85cf\u93e1\u4eba\u2500\u2500\u6f5b\u5728\u8b8a\u6578<\/strong><\/p>\n<p>\u838e\u7fc1\u7684\u611b\u60c5\u6545\u4e8b\u9054\u6210\u5e73\u8861\u6240\u9700\u6642\u9593\u53ca\u983b\u7387\u4e5f\u53ef\u4ee5\u61c9\u7528\u5728\u300cDNA\u5e8f\u5217\u8a3b\u89e3\uff08annotation\uff09\u300d\u3002\u7c21\u55ae\u8aaa\uff0c\u5b83\u7684\u610f\u601d\u5c31\u662f\uff1a\u628aDNA\u5e8f\u5217\u4e2d\u6709\u610f\u7fa9\u7684\u8cc7\u8a0a\u300c\u8a3b\u89e3\u300d\u51fa\u4f86\u3002\u901a\u5e38\u8a3b\u89e3\u662f\u4e00\u7a2e\u610f\u8b58\u578b\u614b\uff0c\u56e0\u6b64\u82e5\u8981\u9032\u884c\u8a3b\u89e3\uff0c\u5c31\u5f97\u8981\u5148\u8ac7\u5230\u300c\u6f5b\u5728\u99ac\u53ef\u592b\u6a21\u5f0f\uff08Hidden Markov Model\uff09\u300d\u3002<\/p>\n<p>\u5728\u6b64\u6a21\u5f0f\u7576\u4e2d\uff0c<strong>\u6211\u5011\u5047\u8a2d\u4e00\u500b\u300c\u6f5b\u5728\u8b8a\u9805\uff08<\/strong><strong>latent variable<\/strong><strong>\uff09\u300d\u6703\u670d\u5f9e\u99ac\u53ef\u592b\u6a21\u5f0f\uff0c\u800c\u6731\u9e97\u8449\u8207\u7f85\u5bc6\u6b50\u7684\u8b6c\u55bb\u7576\u4e2d\uff0c\u5247\u662f\u7537\u5973\u4e3b\u89d2\u5916\u7684\u300c\u85cf\u93e1\u4eba\u300d\u3002<\/strong>\u5728\u5148\u524dCASE\u7684\u4eba\u7269\u5c08\u8a2a\u4e2d\uff0c\u4e5f\u6709\u6bb5\u300c\u4e00\u5f35<strong>\u91cf\u7522\u8afe\u8c9d\u723e\u734e\u5f97\u4e3b\u7684\u684c\u5b50\uff0d\u6f5b\u5728\u8b8a\u6578\u4e4b\u7d71\u8a08\u8a9e\u8a00<\/strong>\u300d\u63d0\u5230\u6709\u4e00\u5f35\u53ea\u8981\u6478\u904e\u5c31\u53ef\u5f97\u5230\u8afe\u8c9d\u723e\u734e\u7684\u795e\u5947\u684c\u5b50\u3002\u9019\u5f35\u684c\u5b50\u5c31\u662f\u300c\u6f5b\u5728\u8b8a\u9805\u300d\uff0c\u56e0\u70ba\u300c\u90a3\u5f35\u684c\u5b50\u8b93\u53ef\u4ee5\u5f97\u8afe\u8c9d\u723e\u734e\u7684\u90a3\u4e9b\u4eba\uff0c\u4ed6\u6709\u9ad8\u5ea6\u6a5f\u6703\u53ef\u4ee5\u805a\u96c6\u5728\u90a3\u908a\u3002\u300d\u5728\u535a\u5f08\u4e2d\u7684\u904b\u7528\u5c31\u662f\uff1a\u5982\u679c\u838a\u5bb6\u8981\u77e5\u9053\u8ced\u5f92\u5011\u6709\u6c92\u6709\u4f5c\u5f0a\uff0c\u5c31\u53ef\u4ee5\u5f9e\u8ced\u5f92\u5011\u9ab0\u51fa\u7684\u6578\u5b57\u4f86\u63a8\u7b97\uff0c\u662f\u5426\u6709\u85cf\u5728\u80cc\u5f8c\u7684\u4e0d\u516c\u6b63\u9ab0\u5b50\u3002\u800cDNA\u5e8f\u4f4d\u7684\u6c7a\u5b9a\uff0c\u4e5f\u5982\u540c\u4e00\u9846\u4e0d\u516c\u6b63\u7684ATCG\u56db\u9762\u9ab0\u5b50\u3002\u9019\u9846\u4e0a\u5e1d\u7684\u9ab0\u5b50\uff0c\u9ab0\u51faA\u3001C\u3001G\u3001T\u6703\u8207\u4e00\u822c\u9577\u93c8DNA\u5e8f\u4f4d\u6240\u5f97\u4e4b\u6bd4\u4f8b\u4e0d\u540c\uff0c\u6b64\u7a2e\u542b\u6f5b\u5728\u8b8a\u9805\u4e4b\u99ac\u53ef\u592b\u6a21\u5f0f\u53ef\u4ee5\u61c9\u7528\u5728\u4e0b\u5217\u57fa\u56e0\u3002\u5728DNA\u4e0a\u7684\u67d0\u500b\u5340\u57df\uff0c\u542b\u6709\u5927\u91cf\u76f8\u5c0d\u591a\u91cfC\uff08Cytosine\uff09\u548cG\uff08Guanine\uff09\uff1b\u4e4b\u5340\u57df\u7a31\u4e4b\u70ba\u300cCpG\u5cf6\uff08CpG islands\uff09\u300d\u3002\u56e0\u70ba\u4e00\u822cCG\u5c0d\u51fa\u73fe\u7684\u983b\u7387\u76f8\u7576\u4f4e\u3002\u901a\u5e38\u5982\u679c\u6709CpG\u5cf6\u51fa\u73fe\uff0c\u6703\u5728\u5916\u986f\u57fa\u56e0\u907a\u50b3\uff08epigenetics\uff09\u626e\u6f14\u91cd\u8981\u89d2\u8272\u3002\u6211\u5011\u767c\u73feCG\u51fa\u73fe\u6b21\u6578\u5f88\u9ad8\u7684\u6642\u5019\uff0c\u6211\u5011\u5c31\u6703\u53bb\u61f7\u7591\u80cc\u5f8c\u662f\u4e0d\u662f\u4e5f\u6709\u4e00\u4f4d\u85cf\u93e1\u4eba\u5728\u64cd\u5f04\uff0c\u5373\u6b64\u6642\u63a7\u5236DNA\u5e8f\u5217\u51fa\u73feCG\u7684\u6f5b\u5728\u7684\u9ab0\u5b50\u8207\u5176\u4ed6\u5e8f\u5217\u7684\u9ab0\u5b50\u4e26\u4e0d\u540c\u3002\u5982\u679c\u6211\u5011\u80fd\u6293\u5230\u85cf\u93e1\u4eba\u5728\u4ec0\u9ebc\u6642\u5019\u6703\u6295\u64f2\u54ea\u9846\u9ab0\u5b50\uff0c\u5247\u6211\u5011\u5c31\u53ef\u4ee5\u53bb\u63a8\u6e2cDNA\u7684\u5e8f\u5217\u3002<\/p>\n<p>\u5982\u679c\u6211\u5011\u627e\u51fa\u6f5b\u5728\u6a21\u5f0f\u7576\u4e2d\u8a3b\u89e3\u7684DNA\uff0c\u6211\u5011\u5c31\u53ef\u4ee5\u76f8\u4fe1\u54ea\u7269\u7a2e\u64c1\u6709\u5171\u540c\u7956\u5148\uff0c\u5982\u6b64\u914d\u5408\u6642\u9593\u9577\u5ea6\u5c31\u53ef\u4ee5\u505a\u70ba\u300c\u7a2e\u7cfb\u907a\u50b3\uff08Phylogenetics\uff09\u300d\u7a2e\u7cfb\u540c\u6e90\u4e4b\u63a8\u4f30\uff0c\u5176\u4e2d\u6240\u793a\u7bc4\u9752\u86d9\u9019\u4e00\u689d\u7dda\u6642\u9593\u7279\u5225\u9577\uff0c\u4ee3\u8868\u4ed6\u6f14\u5316\u7684\u5e74\u4ee3\u7279\u5225\u7684\u9577\uff0c\u548c\u6bd4\u8f03\u4e2d\u7684\u5176\u4ed6\u7269\u7a2e\u76f8\u8f03\uff0c\u89aa\u758f\u95dc\u4fc2\u8f03\u9060\uff0c\u5176DNA\u5e8f\u5217\u76f8\u8fd1\u8f03\u4f4e\u3002\u7a2e\u7cfb\u9593\u7279\u5225\u662f\u7d30\u83cc\u53ca\u75c5\u6bd2\u91cd\u7d44\uff08Interspecies Recombination\uff09\uff0c\u539f\u7d30\u83cc\u548c\u75c5\u6bd2\u7576\u4e2d\u5c31\u6703\u5f7c\u6b64\u4ea4\u63db\uff0c\u5728\u5948\u745f\u6c0f\u83cc\u5c6c\uff08Neisseria\uff09\u7576\u4e2d\uff0c\u5c31\u6709\u767c\u73fe\u4e0a\u8ff0\u7a2e\u7cfb\u9593\u91cd\u7d44\u3002SARS\u6d41\u884c\u6642\u7576\u6642\u4e5f\u662f\u767c\u751f\u4e86\u540c\u6a23\u7684\u4e8b\u60c5\u3002<\/p>\n<p><strong>\u7f85\u5bc6\u6b50\u8207\u8331\u9e97\u8449\u7684\u907a\u50b3\u8aee\u8a62<\/strong><\/p>\n<p>\u6b77\u7d93\u4e00\u756a\u7684\u6ce2\u6298\uff0c\u7f85\u5bc6\u6b50\u8207\u8331\u9e97\u8449\u7d42\u65bc\u8981\u7d50\u5a5a\u4e86\u3002\u900f\u904e\u5bb6\u65cf\u75c5\u53f2\u7684\u67e5\u95b1\uff0c\u6211\u5011\u767c\u73fe\uff0c\u539f\u4f86\u9664\u4e86\u96d9\u65b9\u300c\u59d3\u6c0f\u300d\u7684\u7cfe\u845b\u4e4b\u5916\uff0c\u5728\u907a\u50b3\u4e0a\u4e5f\u4ee4\u4eba\u64d4\u6182\u3002\u5728\u8001\u5e2b\u7684\u6545\u4e8b\u4e0b\uff0c\u9019\u5c0d\u592b\u5a66\u958b\u59cb\u63a5\u53d7\u300c\u907a\u50b3\u8aee\u8a62\uff08Genetic Counseling\uff09\u300d\uff0c\u8331\u9e97\u8449\u7684\u54e5\u54e5\u8207\u8205\u8205\u7f79\u60a3\u67d0\u7a2e\u75be\u75c5\uff0c\u8331\u9e97\u8449\u6b32\u77e5\u81ea\u5df1\u5e36\u6709\u6b64\u75be\u75c5\u57fa\u56e0\u4e4b\u6a5f\u7387\u3002\u53ef\u900f\u904e<strong>\u300c\u8c9d\u6c0f\u5b9a\u7406\uff08<\/strong><strong>Bayes theorem<\/strong><strong>\uff09\u300d\u7684\u904b\u7b97\u4f86\u6c42\u5f97\u3002<\/strong>\u904b\u7528\u5148\u524d\u5b78\u5230\u7684\u54c8\u6eab\u5b9a\u5f8b\uff0c\u4f86\u8a08\u7b97\u300c\u81ea\u9ad4\u96b1\u6027\u907a\u50b3\u6a21\u5f0f\uff08Autosomal Recessive Inheritance\uff09\u300d\u82ef\u916e\u6c0f\u5c3f\u75c7\u5e36\u539f\u7684\u6a5f\u7387\u3002\u6211\u5011\u5047\u5b9a\u986f\u6027\u57fa\u56e0\u662fA\u96b1\u6027\u57fa\u56e0\u662fa\uff0c\u800c\u4e8c\u8005\u7684\u57fa\u56e0\u983b\u7387\u5206\u5225\u662fp\u548cq\uff0c\u6211\u5011\u900f\u904e\u7d71\u8a08\u77e5\u9053\u65cf\u7fa4\u75be\u75c5\u767c\u751f\u7387\u662f<em>I<\/em>\uff0c\u800c\u6b64\u75be\u75c5\u9867\u540d\u53ea\u6709\u5728\u5169\u500b\u7b49\u4f4d\u57fa\u56e0\u90fd\u662f\u96b1\u6027\uff08aa\uff09\u6642\u624d\u6703\u767c\u75c5\u3002\u6240\u4ee5\uff0c<em>I<\/em>\u5373\u662fq<sup>2<\/sup>\uff0c\u800c\u5e36\u539f\uff08Aa\uff09\u7387\u5247\u70ba2pq\uff0c\u6b64\u5373\u70ba<strong>\u4e8b\u524d\u6a5f\u7387<\/strong>\u3002\u6211\u5011\u53ef\u4ee5\u5f9e\u8331\u9e97\u8449\u7684<strong>\u5bb6\u65cf\u75c5\u53f2\uff08\u6982\u4f3c\u51fd\u6578\uff09<\/strong>\u4f86\u63a8\u4f30\u5979\u8eab\u4e0a\u5e36\u6709\u67d0\u7a2e\u75be\u75c5\u57fa\u56e0\u7684\u6a5f\u7387\u662f\u591a\u5c11\u3002\u56e0\u6b64\u6211\u5011\u53ef\u4ee5\u5229\u7528\u89c0\u5bdf\u5230\u7684\u5bb6\u65cf\u7f79\u75c5\u60c5\u6cc1\uff08\u6982\u4f3c\u51fd\u6578\uff09\u4f86\u66f4\u65b0\u539f\u5148\u63a8\u6e2c\u8331\u9e97\u8449\u5e36\u6709\u75be\u75c5\u57fa\u56e0\u7684\u6a5f\u7387\uff08\u4e8b\u524d\u6a5f\u7387\uff09\uff0c\u5f97\u5230\u8331\u9e97\u8449\u5e36\u6709\u67d0\u7a2e\u75be\u75c5\u57fa\u56e0\u7684\u6a5f\u7387\uff0c\u6b64\u5373\u70ba<strong>\u300c\u4e8b\u5f8c\u6a5f\u7387\u300d\u3002<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p>\u300c\u81ea\u9ad4\u986f\u6027\u907a\u50b3\uff08Autosomal Dominant Inheritance\uff09\u300d\u75be\u75c5\u7684\u7279\u9ede\uff0c\u5176\u76f8\u95dc\u75be\u75c5\u8868\u73fe\uff0c\u5e38\u53d7\u5230\u300c<strong>\u7a7f\u900f\u529b\u6216\u7a31\u5916\u986f\u7387\uff08<\/strong><strong>penetrance<\/strong><strong>\uff09<\/strong>\u300d\u7a0b\u5ea6\u7684\u5f71\u97ff\u3002\u7a7f\u900f\u529b\uff0c\u6307\u7684\u662f\u67d0\u4e00\u500b\u9ad4\u57fa\u56e0\u578b\u8868\u73fe\u51fa\u9810\u671f\u6027\u72c0\u7684\u6a5f\u7387\u3002\u5982\u4f55\u52a0\u5165\u7a7f\u900f\u529b\u4e4b\u53c3\u6578\u4e26\u914d\u5408\u8c9d\u6c0f\u5b9a\u7406\u53ca\u907a\u50b3\u6a21\u5f0f\uff08\u5982\u81ea\u9ad4\u986f\u6027\u907a\u50b3\uff09\u63a8\u4f30\u5b50\u4ee3\u53ca\u89aa\u4ee3\u4e4b\u57fa\u56e0\u578b\u53ca\u5f97\u75c5\u7387\u662f\u907a\u50b3\u8aee\u8a62\u611f\u8208\u8da3\u4e4b\u4e8b\u3002<\/p>\n<p>\u5176\u6b21\u5728\u907a\u50b3\u4e2d\uff0c\u5982\u4f55\u627e\u51fa\u81f4\u75c5\u57fa\u56e0\u4f4d\u7f6e\u4e5f\u662f\u91cd\u8981\u7684\u8b70\u984c\u3002\u8fd1\u5e74\u4f86\u5206\u5b50\u751f\u7269\u6d41\u884c\u75c5\u5b78\u76db\u884c\u4e0b\uff0c\u6211\u5011\u53ef\u4ee5\u900f\u904e\u5df2\u77e5\u7684\u6a19\u8a8c\u57fa\u56e0\u4f86\u6a19\u5b9a\u81f4\u75c5\u57fa\u56e0\u7684\u53ef\u80fd\u4f4d\u7f6e\uff0c\u7576\u6a19\u8a8c\u57fa\u56e0\u8207\u75be\u75c5\u57fa\u56e0\u4f4d\u65bc\u540c\u4e00\u689d\u67d3\u8272\u9ad4\u4e0a\u4e14\u5f88\u9760\u8fd1\u6642\uff0c\u5247\u5728\u6e1b\u6578\u5206\u88c2\u5f8c\uff0c\u50b3\u905e\u7d66\u4e0b\u4e00\u4ee3\u6642\u6703\u6709\u300c<strong>\u9023\u9396<\/strong>\u300d\u7684\u73fe\u8c61\uff0c\u4e00\u8d77\u4e0b\u50b3\u7d66\u5b50\u4ee3\u3002\u56e0\u6b64\u8490\u96c6\u67d3\u75c5\u5b50\u4ee3\u8207\u5176\u7236\u6bcd\u4e4b\u6a19\u8a8c\u57fa\u56e0\uff0c\u900f\u904e<strong>\u9023\u9396\u4e0d\u5e73\u8861\u6aa2\u5b9a<\/strong>(Transmission disequilibrium test, TDT)\uff0c\u6211\u5011\u53ef\u4ee5\u5f97\u77e5\u81f4\u75c5\u57fa\u56e0\u662f\u5426\u5728\u6a19\u8a8c\u57fa\u56e0\u7684\u9644\u8fd1\uff0c\u800c\u4e0a\u8ff0\u6aa2\u5b9a\u65b9\u6cd5\u5373\u70baMcNemar test\u3002\u9664\u63a1\u7528TDT\u4f86\u6aa2\u5b9a\u6a19\u8a8c\u57fa\u56e0\u8207\u81f4\u75c5\u57fa\u56e0\u662f\u5426\u9023\u9396\uff0c\u4e5f\u53ef\u900f\u904e\u5176\u4ed6\u9023\u9396\u5206\u6790\u65b9\u6cd5\u5982\uff1aLod Score Analysis\u4f86\u5206\u6790\u5bb6\u65cf\u8b5c\u8cc7\u6599\u5f97\u5230\uff0c\u8001\u5e2b\u6240\u7528\u4e4b\u4f8b\u986f\u793a\u4e00\u822c\u800c\u8a00Lod score&gt;3\u4ee3\u8868\u6709\u9023\u9396\u3002\u6b64\u5916\uff0c\u8001\u5e2b\u4e5f\u4f7f\u7528\u9023\u9396\u5206\u6790\u4e4bLod Score\u5206\u6790\u627e\u5230\u4e73\u764cBRCA\u57fa\u56e0\uff0c\u63cf\u8ff0\u8331\u9e97\u8449\u4e4b\u4e73\u764c\u75c5\u4f8b\u3002<\/p>\n<p>\u70ba\u4e86\u5c07\u907a\u50b3\u5206\u5b50\u751f\u7269\u7814\u7a76\u6240\u627e\u5230\u4e4b\u57fa\u56e0\u914d\u5408\u5176\u4ed6\u975e\u907a\u50b3\u56e0\u5b50\uff0c\u8001\u5e2b\u7c21\u55ae\u4ecb\u7d39\u300c\u4e73\u764c\u591a\u968e\u6bb5\u5371\u96aa\u8a55\u4f30\u6a21\u5f0f\u53ca\u500b\u4eba\u4e73\u764c\u9810\u9632\u300d\uff0c\u5176\u6839\u64da\u500b\u4eba\u57fa\u56e0\u3001\u4e73\u623f\u5bc6\u5ea6\u3001\u8cc0\u723e\u8499\u76f8\u95dc\u5371\u96aa\u56e0\u5b50\u8207\u5176\u4ed6\u751f\u7269\u6a19\u8a18\u53ef\u5efa\u7acb\u300c<strong>\u500b\u4eba\u5371\u96aa\u5206\u6578<\/strong>\u300d\uff0c\u5982\u70ba\u4e73\u764c\u9ad8\u98a8\u96aa\u65cf\u7fa4\u5247\u53ef\u900f\u904e\u63d0\u65e9\u7be9\u6aa2\u5e74\u9f61\u6216\u7e2e\u77ed\u7be9\u6aa2\u9593\u9694\u4f86\u9810\u9632\u3002\u56e0\u6b64\u96d6\u7136\u8331\u9e97\u8449\u6709\u7f79\u60a3\u4e73\u764c\u4e4b\u98a8\u96aa\uff0c\u4f46\u53ea\u8981\u900f\u904e\u5c0d\u907a\u50b3\u77e5\u8b58\u7684\u77ad\u89e3\uff0c\u9032\u884c\u907a\u50b3\u8aee\u8a62\uff0c\u642d\u914d\u73fe\u4ee3\u7684\u91ab\u7642\u6280\u8853\uff0c\u9019\u5c0d\u6200\u4eba\u5176\u5be6\u80fd\u5920\u5065\u5eb7\u5feb\u6a02\u5730\u767d\u9996\u5055\u8001\u3002<\/p>\n<p>\u6700\u5f8c\u8001\u5e2b\u4ecb\u7d39\u5982\u4f55\u5c07\u6b64\u7a2e\u751f\u7269\u907a\u50b3\u7d50\u5408\u6578\u5b78\u77e5\u8b58\u5e36\u7d66\u793e\u5340\u6c11\u773e\uff0c\u4ed6\u5011\u793e\u5340\u7814\u7a76\u5718\u968a\uff0c\u5728\u8001\u5e2b\u7684\u5f15\u9818\u4e0b\uff0c\u5728\u5925\u4f34\u7684\u5171\u540c\u52aa\u529b\u53ca\u5404\u5730\u885b\u751f\u5c40\u7684\u5927\u529b\u8944\u52a9\u4e0b\u65bc\u57fa\u9686\u5e02\u653f\u5e9c\u67b6\u8a2d<strong>\u300c\u57fa\u9686\u5e02<\/strong><strong>e<\/strong><strong>\u5316\u5065\u5eb7\u535a\u7269\u9928\u300d<\/strong>\u7db2\u7ad9\uff08\u7db2\u5740\uff1aHttp:\/\/chmuseum.klchb.gov.tw\uff09\uff0c\u5206\u6210\u4e94\u500b\u4e3b\u8981\u9928\u5ba4\uff1a\u98a8\u96aa\u8a55\u4f30\u9928\u3001\u5065\u5eb7\u4fc3\u9032\u9928\u3001\u75be\u75c5\u9810\u9632\u9928\u3001\u5065\u5eb7\u7167\u8b77\u9928\u3001\u5065\u5eb7\u77e5\u8b58\u9928\u3002\u800c\u5728\u300c\u98a8\u96aa\u8a55\u4f30\u9928\u300d\u7576\u4e2d\uff0c\u6211\u5011\u53ea\u8981\u8f38\u5165\u7279\u5b9a\u7684\u53c3\u6578\uff0c\u5c31\u53ef\u4ee5\u8a08\u7b97\u51fa\u500b\u4eba\u5316\u7684\u7f79\u75c5\u98a8\u96aa\u3002\u900f\u904e\u9019\u6a23\u5e73\u53f0<strong>\u5c07\u5b78\u8853\u7814\u7a76\u50b3\u9054<\/strong><strong>(delivery)<\/strong><strong>\u5230\u6c11\u773e\u7aef<\/strong>\uff0c\u4f7f\u6c11\u773e\u5f97\u4ee5\u9032\u884c\u81ea\u6211\u8a55\u4f30\uff0c\u4e26\u63a8\u5ee3\u907a\u50b3\u8aee\u8a62\u7684\u91cd\u8981\u6027\uff0c\u8b93\u500b\u4eba\u6f5b\u85cf\u7684\u75be\u75c5\u80fd\u5920\u53ca\u65e9\u88ab\u6ce8\u610f\u5230\uff0c\u4ee5\u8332\u9810\u9632\u8207\u6cbb\u7642\u3002<\/p>\n<p>--<\/p>\n<pre><span style=\"color: #333333;\"> \u672c\u6587\u6574\u7406\u81ea\uff1a101\/10\/27\u4e0b\u5348\u7531\u9673\u79c0\u7199\u6559\u6388\u5728\u81fa\u5927\u61c9\u529b\u6240\u570b\u969b\u6f14\u8b1b\u5ef3\u6240\u4e3b\u8b1b\u4e4b\u300c\u7576\u751f\u7269\u9047\u898b\u6578\u5b78\u300d\u7684\u6f14\u8b1b\u5167\u5bb9<\/span><\/pre>\n<pre><span style=\"color: #333333;\"> \u5ef6\u4f38\u95b1\u8b80\uff1a\u53f0\u5927\u79d1\u5b78\u6559\u80b2\u767c\u5c55\u4e2d\u5fc3\u63a2\u7d22\u57fa\u790e\u79d1\u5b78\u8b1b\u5ea72012\u5e7410\u670827\u65e5\u7b2c\u4e09\u8b1b\u3008\u7576\u751f\u7269\u9047\u898b\u6578\u5b78\u3009<\/span><a href=\"https:\/\/case.ntu.edu.tw\/CASTUDIO\/course.php?speech_ID=3121#video_top\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"color: #333333;\">\u5168\u7a0b\u5f71\u97f3<\/span><\/a><\/pre>\n<p><strong>\u63a8\u85a6\u95b1\u8b80\uff1a<\/strong><br \/>\n<strong> Ewens, Warren J., Grant, Gregory R.<\/strong>: Statistical Methods in Bioinformatics, 2nd <strong>2005<\/strong><br \/>\n<strong> Duncan C. Thomas: <\/strong>Statistical Methods in Genetic Epidemiology<strong> 2004<\/strong><\/p>\n<p>\ufe5d\u672c\u6587\u4f5c\u8005\u64da\u50b3\u66fe\u662f\u4e0d\u52d9\u6b63\u696d\u7684\u7b46\u8015\u8fb2\u592b\uff0c\u73fe\u5c31\u8b80\u81fa\u7063\u5927\u5b78\u517c\u8077\u6587\u5b78\u5beb\u4f5c\ufe5e<\/p>\n<p><span style=\"color: #333399;\"><strong><strong>\u8cac\u4efb\u7de8\u8f2f\uff1aNita Hsu<\/strong><\/strong><\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u7b2c\u4e09\u8b1b\u2027\u7279\u7a3f \u25a0\u00a0\u300c\u8331\u9e97\u8449\uff1a\u7f85\u5bc6\u6b50\u554a\uff01\u8acb<\/p>\n","protected":false},"author":1,"featured_media":12144,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3293,872],"tags":[],"aioseo_notices":[],"jetpack_featured_media_url":"https:\/\/case.ntu.edu.tw\/blog\/wp-content\/uploads\/2012\/11\/CA02220.jpg","_links":{"self":[{"href":"https:\/\/case.ntu.edu.tw\/blog\/index.php?rest_route=\/wp\/v2\/posts\/12170"}],"collection":[{"href":"https:\/\/case.ntu.edu.tw\/blog\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/case.ntu.edu.tw\/blog\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/case.ntu.edu.tw\/blog\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/case.ntu.edu.tw\/blog\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=12170"}],"version-history":[{"count":15,"href":"https:\/\/case.ntu.edu.tw\/blog\/index.php?rest_route=\/wp\/v2\/posts\/12170\/revisions"}],"predecessor-version":[{"id":29234,"href":"https:\/\/case.ntu.edu.tw\/blog\/index.php?rest_route=\/wp\/v2\/posts\/12170\/revisions\/29234"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/case.ntu.edu.tw\/blog\/index.php?rest_route=\/wp\/v2\/media\/12144"}],"wp:attachment":[{"href":"https:\/\/case.ntu.edu.tw\/blog\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=12170"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/case.ntu.edu.tw\/blog\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=12170"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/case.ntu.edu.tw\/blog\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=12170"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}