hMLH1A655G／A多态性与结直肠癌发病的相关性  

Mismatch repair gene hMLH1 A655G/A polymorphism and colorectal cancer

作　　者：宋磊[1] 张晓梅[2] 王德强[1] 李金田[2] 马国建[2] 陈森清[2] 周建农[1] 

机构地区：[1]南京医科大学附属江苏省肿瘤医院普通外科,210029 [2]南京医科大学附属江苏省肿瘤医院分子生物学室,210029

出　　处：《中华胃肠外科杂志》2010年第3期216-218,共3页Chinese Journal of Gastrointestinal Surgery

基　　金：基金项目：江苏省自然科学基金（BK2007258）

摘　　要：目的研究错配修复基因hMLH1A655多态性与结直肠癌发病的关系。方法提取135名健康人和115例结直肠癌患者的外周血DNA．聚合酶链反应-变性高效液相色谱（PCR．DHPLC）技术及DNA序列分析检测hMLH1A655多态性，采用病例对照研究统计分析hMLH1A655多态性与结直肠癌发病的关系。结果hMLH1A655G检出率在正常人群和结直肠癌患者中分别为3．0％和11．3％，两组比较差异有统计学意义（P〈0．01）。管状或乳头状腺癌中A655G检出率为8．2％．黏液腺癌中检出率为27．8％，两者比较差异有统计学意义（P〈0．05）。而hMLH1A655G／A多态性与年龄、性别及有无淋巴结转移无明显相关（P〉0．05）。结论hMLH1A655A—G突变可能在结直肠癌的发病过程中具有重要影响．并且hMLH1A655多态性有可能成为结直肠癌患者预后风险评估的一个指标。Objective To investigate the etiological role of hMLH1 gene A655 polymorphism in coloreetal cancer. Methods A case-control study was carried out, including 115 colorectal cancer patients and 135 healthy people as control. Genomic DNA was extracted from peripheral white blood eel1 from all the subjects. Polymorphism was detected by PCR-based DHPLC analysis and verified by DNA sequencing. Results The hMLH1 gene A655G polymorphism was detected in 3.0% of healthy people and 11.3% of colorectal cancer patients（P〈0.01）, and the difference was significant（P〈0.01）. The hMLH1 gene A655G polymorphism was detected in 8.2% of tubular adenoeareinoma or tubular-papillary adenoearcinoma and 27.8% of mucinous adenocarcinoma, which was also significant （P〈0.05）. Meanwhile, hMLH1 gene A655G polymorphism was not associated with age, gender and lymphatic metastasis （all P〉0.05）.Conclusions The hMLHI gene A655G polymorphism may play a role in the pathogenesis of coloreetal cancer. Determination of the polymorphism may be a potential marker to predict the prognosis of colorectal cancer patients.

关 键 词：结直肠肿瘤 DNA错配修复 基因 HMLH1 多态性 单核苷酸 

分 类 号：R735.3[医药卫生—肿瘤]