线粒体DNA HVR区Ⅰ序列突变与肺鳞癌关系的研究  

Relationship between HVRⅠ mutation of mitochondrial DNA and lung squamous carcinoma

作　　者：刘丽红[1] 胡义德[1] 

机构地区：[1]第三军医大学新桥医院全军肿瘤诊治中心,重庆市肿瘤生物技术研究所,重庆400037

出　　处：《第三军医大学学报》2005年第7期652-654,共3页Journal of Third Military Medical University

基　　金：国家自然科学基金资助项目 ( 30 0 80 0 30 )~~

摘　　要：目的　分析肺鳞癌患者外周血白细胞及其癌组织线粒体DNA(mitochondrialDNA ,mtDNA)非编码区(又称D 环)高变区Ⅰ(hypervariableregionⅠ,HVRⅠ)序列的突变情况并探讨其意义。方法　应用改良一步法制备13例肺鳞癌患者外周血白细胞及肺鳞癌组织mtDNA ,PCR产物直接测序,对比分析HVRⅠ区序列突变情况。结果　13例肺鳞癌患者癌组织mtDNAHVRⅠ区中,有8例出现了突变,占61 5 4% ;在2 5个不同位点上共发现3 0个突变,其中点突变占5 6 67% (17/3 0 ) ,插入和缺失突变占43 3 3 % (13 /3 0 ) ,并发现1例肺鳞癌病人存在10bp片段的缺失。结论　肺鳞癌患者癌组织细胞mtDNAHVRⅠ区突变发生率高,其中点突变占有重要地位,插入和缺失突变也不可忽视。Objective To investigate the relationship between hypervariable regionsⅠ(HVRⅠ) mutation of mitochondrial DNA (mtDNA) and lung squamous carcinoma and to explore its significance in carcinogenesis. Methods White blood cells and carcinoma tissues were obtained from 13 cases of lung squamous carcinoma patients and mtDNA were extracted by one step method. HVRⅠfragments were amplified by PCR. Mutations were determined by DNA sequencing. Results In 13 lung squamous carcinoma patients, 8 cases showed mutation in HVR Ⅰ, and 30 mutations were found in 25 different nucleotide sites, in which 17 were point mutations and 13 were insertions and deletions, including a 10-bp deletion in one patient. Conclusion These results suggest that the mutation rate of HVRⅠsequence in lung squamous carcinoma tissue was relatively high, and point mutation might play an important role in lung carcinogenesis.

关 键 词：肺鳞癌 线粒体DNA D-环区 高变区Ⅰ 突变 

分 类 号：R394.3[医药卫生—医学遗传学] R730.23[医药卫生—基础医学]