肝癌细胞线粒体DNA D-Loop高变区基因突变的研究及意义  

Study on the D-Loop Region of Mitochondrion DNA Mutation in Primary Hepatocellular Carcinoma

作　　者：丁忠阳[1] 张峰[2] 蔡兵[1] 俞悦[2] 王学浩[2] 陆飞[1] 孙力[1] 

机构地区：[1]南京医科大学附属无锡市第一人民医院,江苏无锡214002 [2]南京医科大学第一附属医院肝脏外科,江苏南京210000

出　　处：《实用临床医药杂志》2007年第3期68-70,74,共4页Journal of Clinical Medicine in Practice

摘　　要：目的研究原发性肝癌组织中线粒体DNA(mt DNA)基因突变情况及其在肿瘤发生、发展中的作用。方法选择17例原发性肝癌组织及其邻近的癌旁组织,用PCR的方法将线粒体DNA D-Loop两个高变区同时扩增并测序。结果17例原发性肝癌者的D-Loop区中,共有8例存在27个突变位点,总突变率为47%(8/17)。其中有4个属于微卫星不稳定,新发现16个多态性位点。结论线粒体D-Loop区是一个具有高度多态性和突变性的区域,在肝癌中突变率较高。Objective To investigate the mitochondrion DNA mutation in tumor tissues of primary hepatocellular carcinoma patients and their relationship with tumorigenesis and tumor development. Methods The D-Loop region of 17 primary hepatocellular carcinoma together with the adjacent normal tissues were amplified by PCR and sequenced. Results Among the 8 primary hepatocellular carcinoma, 27 mutations were identified with a mutation rate of 47 % （8/17）. There were 4 microsatellite instabilities among the mutations and 16 new polymorphisms which were not reported previously in the Genbank. Conclusions The D-Loop region of mitochondrion DNA is a highly polymorphoric and mutable region and the mutation rate is relatively high in patients with primary hepatocellular cinoma.

关 键 词：线粒体DNA D-环区 突变 原发性肝癌 

分 类 号：R735.7[医药卫生—肿瘤]