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[目的 ]探讨线粒体DNA(mtDNA) 1 651 9T→C变异与肺癌易感性的关系。 [方法 ]采用 1∶1病例对照研究 ,选择南京市原发性肺癌病人与对照各 50例 ,提取血标本白细胞DNA ,通过PCR RFLP法分析mtDNA 1 651 9T→C变异与肺癌易感性的相关性。 [结果 ]mtDNA 1 651 9T→C变异在肺癌病人中的发生率为 64 % ,显著高于对照的 42 % (χ2 =4 48,P <0 0 5) ,与肺癌发生呈现相关性 (OR =2 38,95%CI:1 0 7～ 5 31 )。与代谢酶GSTT1缺失型、mEH exon4突变型存在协同作用 (OR =2 55,95 %CI:1 0 2～ 6 40 )。联合筛检串联试验结果显示 ,同时考虑 1 651 9位点和GSTT1基因型检测结果时 ,可提高肺癌易感性检测的特异度。 [结论 ]mtDNA 1 651 9T→C变异可能通过改变线粒体的功能使患肺癌的危险性增高 ,mtDNA1 651 9位点突变与GSTT1、mEH exon4突变对肺癌发生有协同作用。在肺癌遗传易感性的检测中 ,应进行易感基因型的联合检测
[Objective] To investigate the relationship between mitochondrial DNA (mtDNA) 1 651 9T → C mutation and lung cancer susceptibility. [Method] With 1:1 case-control study, 50 primary lung cancer patients and controls in Nanjing were selected and leukocyte DNA was extracted from blood samples. The correlation between mtDNA 1 651 9T → C mutation and lung cancer susceptibility was analyzed by PCR RFLP . [Results] The incidence of mtDNA 1 651 9T → C mutation was 64% in lung cancer patients, which was significantly higher than that in controls (χ2 = 488, P <0 05) and was correlated with the occurrence of lung cancer (OR = 2 38, 95% CI: 107-031). There was synergistic effect between mEH exon4 mutant and GSTT1 deletion mutant (OR = 255,95% CI: 102 ~ 640). The results of the joint screening series test showed that the specificity of detection of susceptibility to lung cancer can be increased by considering both the 1 651 9 locus and the GSTT1 genotype. [Conclusion] The mtDNA 1 651 9T → C mutation may increase the risk of lung cancer by changing the function of mitochondria. The mutation of mtDNA1 651 9 and the mutation of GSTT1 and mEH exon4 have a synergistic effect on the occurrence of lung cancer. In the detection of genetic susceptibility to lung cancer, joint detection of susceptible genotypes should be performed