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目的探讨错配修复基因MSH5 C85T多态性与非小细胞肺癌(non-small-cell lung carcinoma,NSCLC)易感性的相关性。方法采用PCR-限制片段长度多态性分析技术(PCR-RFLP),对中国人群107例NSCLC患者和120名健康体检者进行候选基因MSH5 C85T多态性分析,后期随机抽取50%标本进行测序验证。结果 NSCLC组MSH5基因C85T多态性CC、CT、TT基因型频率分别为59.8%、35.5%、4.7%,对照组分别为78.3%、20.0%、1.7%,NSCLC组CT、TT基因型频率高于对照组(χ2=9.170,P=0.002;OR=1.855,95%CI=1.229~2.798);NSCLC组C/T等位基因频率分别为77.6%、22.4%,对照组分别为88.3%、11.7%,NSCLC组T等位基因频率高于对照组(χ2=9.405,P=0.002;OR=1.923,95%CI=1.253~2.950);后期随机抽取的50%标本测序结果与RFLP完全相符。结论在中国人群中,MSH5 C85T多态性与NSCLC易感性呈显著相关。
Objective To investigate the association between mismatch repair gene MSH5 C85T polymorphism and susceptibility to non-small-cell lung carcinoma (NSCLC). Methods PCR-restriction fragment length polymorphism (PCR-RFLP) was used to analyze the polymorphism of candidate gene MSH5 C85T in 107 Chinese NSCLC patients and 120 healthy subjects. 50% of the samples were randomly selected for sequence verification . Results The frequencies of genotype C, CT and TT of MSH5 gene in NSCLC patients were 59.8%, 35.5% and 4.7%, respectively, while those in control group were 78.3%, 20.0% and 1.7% respectively. The frequency of CT and TT genotypes in NSCLC patients was high The frequency of C / T allele in NSCLC group was 77.6% and 22.4% respectively in the control group (χ2 = 9.170, P = 0.002; OR = 1.855, 95% CI = 1.229-2.798) %. The frequency of T allele in NSCLC group was higher than that in control group (χ2 = 9.405, P = 0.002; OR = 1.923, 95% CI = 1.253-2.950). Conclusion In Chinese population, MSH5 C85T polymorphism is significantly associated with susceptibility to NSCLC.