{"id":1386,"date":"2024-10-08T19:47:20","date_gmt":"2024-10-08T10:47:20","guid":{"rendered":"https:\/\/www.oakclinic-group.com\/wp\/cu_yosui\/"},"modified":"2024-12-07T19:54:17","modified_gmt":"2024-12-07T10:54:17","slug":"cu_yosui","status":"publish","type":"page","link":"https:\/\/www.oakclinic-group.com\/zh\/funin\/cu_yosui\/","title":{"rendered":"\u4ea7\u524d\u8bca\u65ad\uff1a\u7f8a\u819c\u7a7f\u523a\u672f"},"content":{"rendered":"
\r\n
\r\n
\r\n

\r\n \u4ea7\u524d\u8bca\u65ad\uff1a\u7f8a\u819c\u7a7f\u523a\u672f\r\n <\/h1>\r\n\r\n
\r\n

\r\n\u4f4f\u5409<\/a><\/span> \u94f6\u5ea7<\/a><\/span>\r\n<\/p>\r\n<\/div>\r\n

\r\n<\/p>\r\n\r\n

\r\n

\r\n \u4ec0\u4e48\u662f\u7f8a\u819c\u7a7f\u523a\u672f\uff1f\r\n <\/h2>\r\n
\r\n

\r\n \u901a\u5e38\u6709 46 \u6761\u4eba\u7c7b\u67d3\u8272\u4f53\u3002\r\n \r\n \u5375\u5b50\u548c\u7cbe\u5b50\u5404\u670922\u6761\u5e38\u67d3\u8272\u4f53\u548c1\u6761\u6027\u67d3\u8272\u4f53\uff0c\u53d7\u7cbe\u523023\uff5e46\u6761\uff0c\u53d1\u80b2\u53d1\u80b2\u6210\u80ce\u513f\uff0c\u4f46\u6b64\u65f6\u9057\u4f20\u7684\u67d3\u8272\u4f53\u591a\u6216\u5c11\uff0c\u5982\u679c\u6709\uff0c\u5c31\u662f\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u7f8a\u6c34\u68c0\u67e5\u4f7f\u7528\u7f8a\u6c34\u4e2d\u7684\u80ce\u513f\u7ec6\u80de\u6765\u68c0\u67e5\u80ce\u513f\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u3002\r\n <\/p>\r\n

\r\n G\u6ce2\u6bb5\u5206\u6790\r\n <\/h4>\r\n

\r\n \u4e00\u822c\u7684\u7f8a\u819c\u7a7f\u523a\u68c0\u67e5\u662f\u901a\u8fc7\u79f0\u4e3a G \u6ce2\u6bb5\u5206\u6790\u7684\u65b9\u6cd5\u8fdb\u884c\u7684\u3002\r\n \r\n \u6536\u96c6\u7f8a\u6c34\u4e2d\u7684\u80ce\u513f\u7ec6\u80de\u5e76\u8fdb\u884c\u57f9\u517b\u4ee5\u589e\u52a0\u7ec6\u80de\u6570\u91cf\uff0c\u5e76\u9009\u62e9\u67d3\u8272\u4f53\u5f62\u72b6\u53ef\u8bc6\u522b\u65f6\uff08\u6709\u4e1d\u5206\u88c2\u671f\uff09\u7684\u7ec6\u80de\uff0c\u8fdb\u884c\u67d3\u8272\u3001\u89c2\u5bdf\u548c\u5206\u6790\u3002\r\n \r\n \u7528\u8fd9\u4e2a\u65b9\u6cd5\uff0c\u4f60\u53ef\u4ee5\u770b\u52301\u523022\u53f7\u67d3\u8272\u4f53\u6709\u591a\u5c11\uff0cX\u548cY\u67d3\u8272\u4f53\u6709\u591a\u5c11\u3002\r\n \r\n \u53e6\u5916\uff0c\u7531\u4e8e\u67d3\u8272\u4f53\u662f\u4e00\u4e2a\u4e00\u4e2a\u5730\u89c2\u5bdf\u7684\uff0c\u5982\u679c\u6709\u5f88\u5927\u7684\u5f02\u5e38\uff0c\u53ef\u4ee5\u77e5\u9053\u90e8\u5206\u591a\u4f4d\u6216\u6613\u4f4d\uff08\u67d3\u8272\u4f53\u88ab\u90e8\u5206\u66ff\u6362\uff09\u3002\r\n \r\n \u4e0e\u68c0\u67e5\u7279\u5b9a\u75be\u75c5\u6982\u7387\u7684 quattro \u6d4b\u8bd5\u4e0d\u540c\uff0c\u6b64\u7ed3\u679c\u662f\u786e\u5b9a\u6027\u8bca\u65ad\uff0c\u4f46\u5e76\u975e\u6240\u6709\u67d3\u8272\u4f53\u5f02\u5e38\u90fd\u53ef\u4ee5\u8bca\u65ad\u3002\r\n \r\n G\u5e26\u5206\u6790\u4e0d\u80fd\u663e\u793a\u51fa\u7ec6\u5fae\u7684\u5f02\u5e38\uff0c\u800c\u662f\u56e0\u4e3a\u67d3\u8272\u4f53\u7684\u5fae\u7f3a\u5931\u548c\u78b1\u57fa\u5e8f\u5217\u7684\u5fae\u5f02\u5e38\u53ef\u80fd\u662f\u5148\u5929\u6027\u75be\u75c5\u7684\u539f\u56e0\u3002\r\n \r\n \u8fd9\u79cd\u5148\u5929\u6027\u5f02\u5e38\u88ab\u79f0\u4e3a\u201c\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u201d\u3002\r\n <\/p>\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n
\r\n\"\u7f8a\u6c34\u7a7f\u523a\"\r\n<\/td>\r\n\r\n

\r\n \u6536\u96c6\u7f8a\u6c34\r\n <\/p>\r\n<\/td>\r\n<\/tr>\r\n

\r\n\"#\"\r\n<\/td>\r\n<\/tr>\r\n
\r\n\"\u5728\u7f8a\u6c34\u4e2d\u5b75\u80b2\u80ce\u513f\u7ec6\u80de\"\r\n<\/td>\r\n\r\n

\r\n \u5728\u7f8a\u6c34\u4e2d\u5b75\u80b2\u80ce\u513f\u7ec6\u80de\u3002\r\n \r\n \u5728\u6709\u4e1d\u5206\u88c2\u4e2d\u67d3\u8272\u7ec6\u80de\u65f6\uff0c\u53ef\u4ee5\u5728\u7ec6\u80de\u6838\u4e2d\u770b\u5230\u67d3\u8272\u4f53\u3002\r\n <\/p>\r\n<\/td>\r\n<\/tr>\r\n

\r\n\"#\"\r\n<\/td>\r\n<\/tr>\r\n
\r\n\"\u67d3\u8272\u4f53\"\r\n<\/td>\r\n\r\n

\r\n \u5728\u663e\u5fae\u955c\u4e0b\u89c2\u5bdf\u67d3\u8272\u7684\u67d3\u8272\u4f53\u4ee5\u786e\u5b9a\u6709\u591a\u5c11\u67d3\u8272\u4f53\u3002\r\n \r\n \u8fd8\u53ef\u4ee5\u786e\u5b9a\u5927\u91cf\u5220\u9664\u548c\u8fc7\u5269\u3002\r\n \r\n \u65e0\u6cd5\u786e\u5b9a\u5fae\u7f3a\u5931\u3002\r\n <\/p>\r\n<\/td>\r\n<\/tr>\r\n<\/tbody>\r\n<\/table>\r\n

\r\n \u67d3\u8272\u4f53\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u75c7\u72b6\u56e0\u7f3a\u9677\u90e8\u4f4d\u800c\u5f02\uff08\u88681\uff09\uff0c\u6709\u4e9b\u6839\u672c\u6ca1\u6709\u75c7\u72b6\uff0c\u4f46\u4e5f\u53ef\u80fd\u6709\u4e25\u91cd\u7684\u75c7\u72b6\u3002\r\n \r\n \u8457\u540d\u7684\u6709 DiGeorge \u7efc\u5408\u5f81\uff0c\u4f34\u6709\u5668\u5b98\u53d1\u80b2\u5f02\u5e38\u3001\u5fc3\u810f\u7578\u5f62\u3001\u667a\u529b\u8fdf\u949d\u3001\u8a00\u8bed\u969c\u788d\u548c\u514d\u75ab\u7f3a\u9677\uff0c\u636e\u8bf4\u6bcf 4000-5000 \u4eba\u4e2d\u5c31\u6709 1 \u4eba\u51fa\u73b0\u8fd9\u79cd\u60c5\u51b5\u3002\r\n \r\n \u9700\u8981\u66f4\u51c6\u786e\u7684\u5206\u6790\u65b9\u6cd5\u6765\u8bca\u65ad\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u3002\r\n <\/p>\r\n

\r\n \u8868 1. \u67d3\u8272\u4f53\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\r\n <\/p>\r\n

\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n
\r\n \u59d3\u540d\r\n <\/th>\r\n\r\n \u67d3\u8272\u4f53\u7f3a\u9677\u4f4d\u70b9\r\n <\/th>\r\n\r\n \u4e3b\u8981\u75c7\u72b6\r\n <\/th>\r\n<\/tr>\r\n
\r\n Wolf-Hirschhorn \u7efc\u5408\u5f81\r\n <\/td>\r\n\r\n 4 \u53f7\u67d3\u8272\u4f53\u77ed\u81c2 (4p)\r\n <\/td>\r\n\r\n \u7279\u5f81\u6027\u9762\u90e8\u7279\u5f81\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u4e25\u91cd\u667a\u529b\u4f4e\u4e0b\u3001\r\n \r\n \u808c\u5f20\u529b\u51cf\u9000\u3001\u987d\u56fa\u6027\u766b\u75eb\u3001\u8fdb\u98df\u969c\u788d\r\n <\/td>\r\n<\/tr>\r\n
\r\n \u5a01\u5ec9\u59c6\u65af\u7efc\u5408\u5f81\r\n <\/td>\r\n\r\n 7\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff087q11.23\uff09\r\n <\/td>\r\n\r\n \u4e3b\u52a8\u8109\u74e3\u72ed\u7a84\u3001\u667a\u529b\u4f4e\u4e0b\u3001\u795e\u4ed9\u4e94\u5b98\u3001\r\n \r\n \u5a74\u513f\u671f\u4e00\u8fc7\u6027\u9ad8\u9499\u8840\u75c7\r\n <\/td>\r\n<\/tr>\r\n
\r\n Prader-Willi \u7efc\u5408\u5f81\r\n <\/td>\r\n\r\n 15\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u7236\u4eb2\u884d\u751f\u67d3\u8272\u4f53\uff0815q11\uff09\r\n <\/td>\r\n\r\n \u51fa\u751f\u65f6\u808c\u5f20\u529b\u51cf\u9000\u3001\u80a5\u80d6\u3001\r\n \r\n \u6027\u817a\u673a\u80fd\u51cf\u9000\u3001\u56db\u80a2\u5c0f\u3001\u667a\u529b\u4f4e\u4e0b\r\n <\/td>\r\n<\/tr>\r\n
\r\n \u5929\u4f7f\u7efc\u5408\u5f81\r\n <\/td>\r\n\r\n 15\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u6bcd\u6e90\u67d3\u8272\u4f53 \uff0815q11\uff09\r\n <\/td>\r\n\r\n \u766b\u75eb\u53d1\u4f5c\u3001\u6728\u5076\u6837\u5171\u6d4e\u5931\u8c03\u3001\u7a81\u7136\u5927\u7b11\u3001\u62cd\u624b\u3001\u4e25\u91cd\u667a\u529b\u4f4e\u4e0b\r\n <\/td>\r\n<\/tr>\r\n
\r\n Miller-Dieker \u7efc\u5408\u5f81\r\n <\/td>\r\n\r\n 17 \u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff0817p13.3\uff09\r\n <\/td>\r\n\r\n \u65e0\u8111\u7578\u5f62\u3001\u4f4e\u4ef0\u9f3b\u3001\u4e25\u91cd\u53d1\u80b2\u8fdf\u7f13\u3001\u766b\u75eb\u53d1\u4f5c\u3001\u4e25\u91cd\u667a\u529b\u4f4e\u4e0b\r\n <\/td>\r\n<\/tr>\r\n
\r\n \u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\r\n <\/td>\r\n\r\n 22\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff0822q11.21\uff09\r\n <\/td>\r\n\r\n \u80f8\u817a\u548c\u7532\u72b6\u65c1\u817a\u53d1\u80b2\u4e0d\u5168\u6216\u7f3a\u4e4f\u3001\u5fc3\u810f\u7578\u5f62\u3001\u816d\u88c2\u3001\u667a\u529b\u4f4e\u4e0b\u3001\u7cbe\u795e\u95ee\u9898\r\n <\/td>\r\n<\/tr>\r\n<\/tbody>\r\n<\/table>\r\n<\/div>\r\n

\r\n SNP\u5fae\u9635\u5217\r\n <\/h4>\r\n

\r\n \u67d3\u8272\u4f53\u7531\u86cb\u767d\u8d28\u548cDNA\uff08\u57fa\u56e0\uff09\u7ec4\u6210\u3002DNA\u662f\u817a\u560c\u5464(A)\u3001\u80f8\u817a\u5627\u5576(T)\u3001\u9e1f\u560c\u5464(G)\u548c\u80de\u5627\u5576(C)\u56db\u79cd\u78b1\u57fa\u7684\u53cc\u87ba\u65cb\u7ed3\u6784\uff0c\u78b1\u57fa\u7684\u6392\u5217(\u78b1\u57fa\u5e8f\u5217)\u662f\u9057\u4f20\u4fe1\u606f\u3002\u78b1\u57fa\u7684\u6570\u91cf\u548c\u5e8f\u5217\u7531\u7269\u79cd\u51b3\u5b9a\uff0c\u4f46\u4e5f\u6709\u90e8\u5206\u5e8f\u5217\u4e0e\u6807\u51c6\u78b1\u57fa\u5e8f\u5217\u4e0d\u540c\uff0c\u5927\u7ea6\u4e3a\u6570\u767e\u4e2a\u5230 1000 \u4e2a\u78b1\u57fa\u4e2d\u7684 1 \u4e2a\u3002\r\n \r\n \u4e00\u4e2a\u78b1\u57fa\u7684\u5dee\u5f02\u79f0\u4e3asnip\uff08Single Nucleotide polymorphism\uff1bSNP\uff09\uff0c\u662f\u751f\u7269\u4e2a\u4f53\u5dee\u5f02\u548c\u591a\u6837\u6027\u7684\u6765\u6e90\u3002\r\n \r\n \u4ee5\u4eba\u7c7b\u4e3a\u4f8b\uff0c\u636e\u8bf4\u5728 30 \u4ebf\u4e2a\u78b1\u57fa\u4e2d\u5927\u7ea6\u6709 1000 \u4e07\u4e2a Snips\uff0c\u5e76\u4e14\u5df2\u7ecf\u786e\u5b9a\u4e86\u591a\u4e2a\u4e0e\u5148\u5929\u6027\u75be\u75c5\u6709\u5173\u7684 Snips\u3002\r\n \r\n \u901a\u8fc7\u4f7f\u7528\u5728\u78b1\u57fa\u5e8f\u5217\u6c34\u5e73\u5206\u6790\u67d3\u8272\u4f53\u7684\u88ab\u79f0\u4e3a\u201cSNP\u5fae\u9635\u5217\u201d\u7684\u65b9\u6cd5\uff0c\u53ef\u4ee5\u8bca\u65adG\u5e26\u5206\u6790\u65e0\u6cd5\u68c0\u6d4b\u5230\u7684\u5fae\u5c0f\u67d3\u8272\u4f53\u5f02\u5e38\u3002\r\n <\/p>\r\n\r\n\r\n\r\n\r\n
\r\n\"\u67d3\u8272\u4f53\u548c\r\n<\/td>\r\n\r\n\"#\"\r\n<\/td>\r\n\r\n\"DNA\r\n<\/td>\r\n\r\n\"#\"\r\n<\/td>\r\n\r\n\"\u62a5\u544a\u56fe\"\r\n<\/td>\r\n<\/tr>\r\n
\r\n<\/td>\r\n\r\n<\/td>\r\n\r\n \u6269\u589e DNA \u7247\u6bb5\r\n \r\n \u2193\r\n \r\n \u6742\u4ea4\r\n \r\n \u2193\r\n \r\n \u5206\u6790\r\n <\/td>\r\n\r\n<\/td>\r\n\r\n \u751a\u81f3\u53ef\u4ee5\u68c0\u6d4b\u5230\u5fae\u5c0f\u7684\u5f02\u5e38\r\n <\/td>\r\n<\/tr>\r\n<\/tbody>\r\n<\/table>\r\n<\/div>\r\n

\r\n \u8fdb\u884c\u7f8a\u819c\u7a7f\u523a\u672f\r\n <\/h2>\r\n
\r\n

\r\n \u7f8a\u6c34\u68c0\u67e5\u5728\u7b2c 17 \u5468\u5de6\u53f3\u8fdb\u884c\uff08\u6211\u4eec\u5efa\u8bae 0 \u5230\u7b2c 17 \u5468 3 \u5929\uff09\u3002\r\n \r\n \u9884\u8ba2\u65f6\uff0c\u6709\u5fc5\u8981\u8bca\u65ad\u786e\u5207\u7684\u6000\u5b55\u5468\u6570\uff08\u9884\u8ba1\u5206\u5a29\u65e5\u671f\uff09\u548c\u80ce\u513f\u6570\u91cf\u3002\r\n \r\n \u8bf7\u6309\u7167\u4ee5\u4e0b\u6b65\u9aa4\u64cd\u4f5c\u3002\r\n <\/p>\r\n