【摘要】 [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更多还原

【Abstract】 Analysis association at mitochondrial DNA (mtDNA) 16519 site genotype polymorphisms with lung cancer susceptibility. Blood samples from 50 original lung cancer cases and 50 controls in Nanjing were got,respectively. DNA was extracted from blood samples,then their genotype was detected with PCR RFLP. The rate of 16519 variant (T→C transitions) of mtDNA is significantly higher in lung cancer cases than in controls ( χ 2=4 48, P <0 05). 16519 variant (T→C transitions) of mtDNA was associated with lung cancer ( OR =2 38,95%CI:1 07～5 31). There is interaction of this variant with GSTT1 gene and mEH exon4 gene in the incidence of lung cancer ( OR =2 55,95%CI:1 02～6 40). The results of combined serial screening tests showed that the specificity of lung cancer susceptibility increased when considered both 16519 variant (T→C transitions) of mtDNA and GSTT1 genetypes. [Conclusion] 16519 variant (T→C transitions) of mtDNA may be an important genetic susceptible factor of lung cancer. This demonstrated that mtDNA mutation at 16519 site could be used to screen lung cancer as a molecular biomarker. Combination screening of susceptible genotypes should be conducted for lung cancer genetic susceptible individuals.更多还原