错配修复基因MLH1突变与散发结肠癌易感性的研究  

Study on relationship between MLH1 gene 415 locus G→G mutation and sporadic colorectal cancer in Chinese patients

作　　者：陶卫平[1] 胡胜[2] 谢忆山[1] 蒋振旻[1] 

机构地区：[1]武汉大学人民医院肿瘤科,430060 [2]湖北省肿瘤医院肿瘤内科

出　　处：《中华实验外科杂志》2009年第6期752-754,共3页Chinese Journal of Experimental Surgery

摘　　要：目的观察MLH1基因415位点G→C突变在我国汉族结肠癌患者及人群中的分布，探讨此突变与散发结肠癌相关性。方法收集97例结肠癌患者，138名普通人群，采用聚合酶链反应（PCR）-限制性长度片段多态性分析法检测外周血MLH1415位点基因多态性。采用逆转录（RT）-PCR检测各基因型结肠癌患者正常结肠黏膜的MLH1mRNA表达。结果结肠癌患者MLH1基因415位点C／C基因型频率明显高于普通人群，P〈0．05；OR=5．29，95％CI：1．07～26．04。各基因型结肠癌患者正常结肠黏膜的MLH1mRNA表达差异无统计学意义（F=1．31，P〉0．42）。结论错配修复基因MLH1415位点G→C突变是我国散发结肠癌的遗传易感因素，但未发现此突变影响MLH1mRNA的表达。Objective To study the possible etiological role of MLH1 gene 415 locus C→C mutation in sporadic CRC patients from China. Methods From March 2005 to May 2008,97 cases of sporadic CRC and 138 normal people as controls were collected from Hubei province cancer hospital and Renmin hospital of Wuhan University. Genomic DNA was extracted from peripheral blood of normal people and CRC patients. Gene mutation was analyzed by PCR-RFLP. And MLH1 mRNA expression of colorectal mucosa in different genotypes of CRC patients was detected by RT-PCR. Results The frequency of MLH1 gene C/C genotype was significantly higher in sporadic CRC patients than that in controls ,P 〈 0.05 ;OR =5.29,95% CI： 1.07-26.04. The MLH1 mRNA expression of colorectal mucosa was similar in different genotypes, F = 1.31 ,P 〉0.05. Conclusion MLH1 gene 415 locus C→C mutation may be a genetic susceptibility to sporadic CRC in Chinese,but is impossibly involved in down-regulation of the MLH1 mRNA expression.

关 键 词：结肠癌 基因突变 易感性 

分 类 号：R686[医药卫生—骨科学]