肺鳞癌组织mtDNA HVRⅡ序列突变研究  

The relationship between HVRⅡ mutation of mitochondrial DNA and squamous cell carcinoma of the lung

作　　者：刘丽红[1] 胡义德[1] 柳君泽[1] 钱海洪[1] 钱频[1] 张国强[1] 

机构地区：[1]第三军医大学附属新桥医院全军肿瘤中心

出　　处：《中国肺癌杂志》2006年第4期316-319,共4页Chinese Journal of Lung Cancer

基　　金：国家自然科学基金(No.30080030)资助~~

摘　　要：背景与目的线粒体DNA是除细胞核外的惟一遗传物质,分成编码区和非编码D-环区。本研究拟分析肺鳞癌患者外周血白细胞、癌旁组织及其癌组织线粒体DNA(mitochondrial DNA,mtDNA)非编码D-环高变Ⅱ区(hypervariable regionⅡ,HVRⅡ)序列突变的情况,并探讨其意义。方法应用改良一步法提取15例肺鳞癌患者外周血白细胞、癌旁组织及癌组织mtDNA,PCR产物直接测序,对比分析HVRⅡ区序列突变情况。结果15例肺鳞癌患者癌组织mtDNA HVRⅡ中,14例出现了突变(93.33%)。共发现88个突变,其中87个突变位于重链起始区域,尤其是保守序列区及线粒体转录因子1、2结合位点(TFX和TFY)。结论肺鳞癌患者癌组织mtDNA HVRⅡ区突变发生率高,在肺鳞癌发生发展中可能有重要作用。Background and objective Mitochondrial DNA （mtDNA） is the only hereditary substance besides nucleus, which is composed of a code region and a non-code D-loop region. The aim of this study is to investigate the hypervariable region Ⅱ （HVR Ⅱ ） mutation of mtDNA in peripheral blood leucocyte, pericancerous tissues and cancer tissues of lung squamous cell carcinoma patients, and to explore its significance. Methods White blood cells, pericancerous tissues and cancer tissues were obtained from 15 cases of lung squamous cell carcinoma patients and mtDNA were extracted by one step method. HVR Ⅱ fragments were amplified by PCR. Mutations were determined by DNA sequencing and the mutations of HVR Ⅱ were analysed. Results In 15 lung squamous cell carcinoma patients, 14 patients showed mutation in HVR Ⅱ （93.33%）, 88 mutations were found totally. Eighty-seven mutations located in H-strand origin region, especially in the conserved sequence blocks and the mtTF1, 2 binding site （TFX and TFY）. Conclusion The results suggest that the mutation frequency of HVR Ⅱ in cancer tissues of lung squamous cell carcinoma patients is very high and it might play an important role in carcinogenesis of the lung.

关 键 词：肺肿瘤/鳞癌 线粒体DNA D-环区 高变Ⅱ区 突变 

分 类 号：R734.2[医药卫生—肿瘤]