线粒体基因D—loop区在胃癌中的突变及多态性研究  

Mutation and Polymorphism in D-loop Region of Mitochondrial Genome of Gastric Cancer

作　　者：余果宇[1] 江萍[2] 李云峰[3] 冯维杨[1] 

机构地区：[1]昆明医学院生物化学教研室 [2]病理教研室,云南昆明650031 [3]昆明医学院第三附属医院腹部肿瘤外一科,云南昆明650118

出　　处：《昆明医学院学报》2007年第5期8-12,共5页Journal of Kunming Medical College

基　　金：云南省教育厅科学研究基金(04Z862C)

摘　　要：目的线粒体基因(mitochondrialDNA,mtDNA)的突变通常被认为与肿瘤的形成有关,本研究检测胃癌组织mtDNA D—loop区的突变及多态性,以探讨两者的相关性.方法PCR扩增和测序检查胃癌组织和相应正常组织的线粒体基因D—loop区全序列,并与线粒体文库记录的Revised Cambridge Reference Se- quence(rCRS)进行比对分析.结果15例胃肿瘤中检测出mtDNA D—loop区的162个多态性变异,其中6个(3.7%)为新发现的变异.7例(46.7%)胃癌组织发现体细胞性突变共11次,突变热点集中在HVⅠ区(27.3%)和HVⅡ区(54.5%),并且HVⅡ区较HVⅠ区更易突变。结论D—loop区的高度多态性和突变与胃癌的发生具有相关性。Objective To detect the mutations and polymorphisms of mtDNA D - loop region in gastric cancers and to discuss the correlation between them. Methods The D - loop region of mitochondrial genome in tumor samples and paired normal tissues from gastric cancers were amplified by PCR and sequenced. The sequences were compared with the Revised Cambridge Reference Sequence reported in Mitomap. Results One hundred and sixty- two variants （polymorphisms） were found in total fifteen gastric tumors, and the number of novel polymorphism was six （3.7%）. The hot spots of mutation were located in hypervariable segment Ⅰ （27.3%） and Ⅱ （54.5%）, and there were more mutations in HV Ⅱ than in HV Ⅰ region. Conclusion The high polymorphisms and mutations of D - loop region in mitochondrial DNA probably is correlative to the development of gastric cancer.

关 键 词：线粒体基因 D—loop区 胃癌 突变 多态性 

分 类 号：R374.2[医药卫生—病原生物学]