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目的:研究膀胱癌微卫星不稳定及HMSH2基因突变情况.方法:应用D2S119及D2S123两个微卫星位点标记,PCR法检测45例膀胱癌标本微卫星不稳定;PCR-SSCP银染法分析HMSH2基因外显子7、8、15突变情况.结果:45例膀胱癌中微卫星不稳定者有7例,微卫星不稳定发生率为15.6%;在这7例微卫星不稳定标本中有3例同时检测出DNA错配修复基因HMSH2突变,占微卫星不稳定总数的42.9%,且均为体细胞突变.结论:微卫星不稳定和错配修复基因HMSH2突变可能参与膀胱癌癌变过程.“,”Objective: This paper was designed to study the microsatellite instability (MI) and hMSH2 gene mutation in bladder carcinoma. Methods: We detected the MI in 45 cases of bladder carcinoma by polymerase chain reaction using microsatellite markers such as D2S119 and D2S123. We also analyzed the mutation of hMSH2 gene exons 7, 8, 15 in the MI cases by using polymerase chain reaction single strain conformation polymorphism (PCR SSCP) silver staining analysis. Results: Seven cases showed MI among the 45 cases of bladder carcinoma (15.6%). We found 3 cases of hMSH2 somatic mutation out of the 7 MI cases. Conclusion: Microsatellite instability and mutation of hMSH2 gene might play certain role in the tumorigenesis of bladder carcinoma.