宣威地区非小细胞肺癌患者线粒体DNA突变与多态性研究

【目的】寻找宣威地区肺癌患者肺组织中线粒体DNA突变和多态性情况，为进一步研究宣威地区女性肺癌高发机制提供参考。【方法】征集28例宣威籍肺癌患者，收集癌组织和相应癌旁正常肺组织，提取线粒体DNA ，实时荧光定量PCR和直接测序方法检测线粒体DNA突变和多态性改变。【结果】28例肺癌组织样本同对应癌旁组织比较，有21例（75．0％）发生mtDNA突变，15例有多种突变，突变发生在DLOOP 区，以及呼吸链编码区等区域。突变与患者年龄、性别，及组织学类型无明显联系。28例肺癌组织、相应癌旁组织同M t-DNA剑桥序列比较，有3例有mtDNA多态性改变。【结论】宣威肺癌患者线粒体DNA存在特异性的突变位点，以及多态性位点，可能和当地特殊的燃煤污染暴露及遗传易感性有关。

Study on Mitochondrial DNA Mutations and Polymorphism in Patients with Non-small Cell Lung Cancer in Xuanwei Area

[Objective]To explore mitochondrial DNA （mtDNA ） mutation and polymorphism in lung tis-sues of patients with lung cancer in Xuanwei area in order to provide the reference for the research on the mechanism of high incidence of lung cancer in Xuanwei area .[Methods]A total of 28 patients with lung cancer in Xuanwei area were chosen .Cancer tissues and corresponding adjacent normal lung tissues were collected . The mtDNA was extracted .Real-time fluorescence quantitative PCR and direct sequencing method were used to detect the mutation and polymorphic changes of mtDNA .[Results]Compared with the corresponding adja-cent lung tissues ,21 tissues（75% ） in 28 lung cancer tissues had mtDNA mutation ,and 15 tissues had multiple mutations .Mutations occurred in DLOOP region ,respiratory chain coding region and other regions .There were no obvious correlation of mutations with age ,gender and histological types of patients .Compared with mtDNA cambridge sequence ,3 tissues in 28 lung cancer tissues and corresponding adjacent tissues had the pol-ymorphism of mtDNA .[Conclusion]There are specific sites of mutations and polymorphisms of mtDNA in pa-tients with lung cancer in Xuanwei area ,which may be associated with special coal-fired pollution exposure and genetic susceptibility in this area .