Ni Min, Jin Hei-Ying, Ding Yi-Jiang, Liu Fei, Ding Shu-Qing, Fan Zhi-Min, Wang Ye-Huang
National Center of Colorectal Surgery, The Third Affiliated Hospital, Nanjing University of TCM, Nanjing, China.
Zhonghua Wei Chang Wai Ke Za Zhi. 2008 Jul;11(4):358-61.
To study the characteristics of germline mutations of hMLH1, hMSH2 and hMSH6 and promoter methylation status of MLH1 in patients with MSI colorectal cancer.
Sequence analysis of germline mutation and promoter methylation of MLH1 in 34 prospective collected patients with MSI colorectal cancer were performed.
Nineteen out of 34 patients with MSI colorectal cancer were detected with hypermethylation of MLH1,which accounted for 55.9%. 73.7% MSI-H colorectal cancer cases and 33.3% MSI-L colorectal cancer cases were detected with hypermethylation of MLH1 and the difference was significant. Eight germline mutations were found, including 3 MSH6 mutations and 5 MSH2 mutations.
There are some different characteristics of the germline mutations of hMLH1, hMSH2 and hMSH6 and promoter methylation of MLH1 in Chinese MSI colorectal patients.
研究微卫星高度不稳定（MSI）结直肠癌患者中hMLH1、hMSH2和hMSH6的胚系突变特征以及MLH1的启动子甲基化状态。
对34例前瞻性收集的MSI结直肠癌患者进行MLH1胚系突变和启动子甲基化的序列分析。
34例MSI结直肠癌患者中有19例检测到MLH1高甲基化，占55.9%。73.7%的MSI-H结直肠癌病例和33.3%的MSI-L结直肠癌病例检测到MLH1高甲基化，差异有统计学意义。发现8种胚系突变，包括3种MSH6突变和5种MSH2突变。
中国MSI结直肠癌患者中hMLH1、hMSH2和hMSH6的胚系突变以及MLH1的启动子甲基化存在一些不同特征。
