结直肠癌中错配修复基因杂合性缺失的初步分析

Loss of heterozygosity of MMR genes in patients with colorectal cancer

目的探讨散发性结直肠癌中错配修复基因杂合性缺失的发生情况。方法利用微卫星分析法对30例散发性结直肠癌6个错配修复基因(mismatchrepairgenes,MMR)的杂合性缺失(lossofheterozygosity,LOH)进行了分析。结果6个MMR基因LOH的发生率由高到低依次分别为hMSH3(30%)、hPMS2(25%)、hMLH1(30.0%)、hMSH2/hMSH6(23.07%),hPMS1基因未发现杂合性缺失。结论在中国人散发性结直肠癌中,MMR基因通过等位基因杂合性缺失是结直肠癌发生的重要分子遗传途径之一。

Objective To explore the roles of mismatch repair g enes inactivity in the carcinogenesis of Chinese sporadic colorectal cancer. Methods The loss of heterozygosity (LOH) of all six known MMR ( hPMS1, hPMS1, hMSH2, hMSH6, hMLH1 and hMSH3) was investigated in 30 patients with colorectal cancer. Results The LOH frequencies of the six MMR genes were 30% of hMSH3, 25% of hPMS2, 30.0% of hMLH1, 23.07% of hMSH2/hMSH6 and 0 % of hPMS1, respectively. Conclusions The inactivity of MMR genes by LOH contributes to the carcinogenesis of sporadic colorectal cancer in Chinese patients.