国人HNPCC hMSH2和hMLH1基因胚系突变检测及临床意义

According to the international and Japanese clinical diagnostic diagnosis criteria,56 Chinese HNPCC pedigree were diagnosed and collected.The neoplasm frequency,neoplasm characteristic were analysed. Our clinical diagnostic criteria was tested. The treatment and follow-up methods of these Chinese HNPCC patients were raised. Through the mutational screening of hMSH2 and hMLH1 genes among 20 pedigree, 12 gene germline mutations were found (including one that not previously reported in the world literature) and some polymorphism. 22 mutational gene carriers were found and were followed intensively,and preventive drug was used among these patients. We found that DHPLC was a better mutational screening methods, more sensitive, accurate and economical in hMSH2 and hMLH1 genes screening. The expression of hMLH1 and hMSH2 was tested in 60 sporadic and 15 HNPCC cancers, and were found a simple method in identifying MMR phenotype.

本研究设计了遗传性非息肉性大肠癌hMSH2和hMLH1基因胚系突变二轮检测法，对比研究符合国际诊断标准和我们总结的辅助诊断标准的我国30个HNPCC家系基因胚系突变情况，验证国收锒媳曜荚诠诘氖视眯裕傅贾贫┳钍屎瞎说腍NPCC辅助诊断标准，寻找具有国人特点的始祖突变，并了解乳腺癌和肺癌是否属于本病肿瘤谱，为临床工作提供理论依据。