肝细胞性肝癌线粒体DNA D-100p区基因突变的研究

目的研究肝细胞性肝癌组织线粒体DNA D—loop区基因的突变情况。方法选择40例肝细胞性肝癌组织和其相应癌旁组织，取对应患者外周静脉血，提取线粒体DNA后进行PCR扩增和测序。结果40例肝细胞性肝癌组织线粒体DNA D-loop区中，发生突变16例（40．0％），共发现突变住点34个，其中16个位点为点突变，5个位点发生插入，13个位点发生缺失；另外新发现2个多态性位点。结论线粒体DNA D-loop区是一个具有高度多态性和突变性的区域，在肝细胞性肝癌组织中突变率较高。

Study on the D-loop Region of Mitochondrial DNA Mutation in HepatoceHular Carcinoma

Objective To investigate the D-loop region of mitochondrial DNA mutation in tumor tissues of hepatocellular carcinoma. Methods Hepatocellular carcinoma tissues,paracancerous tissues and peripheral vein blood were obtained from 40 patients with hepatocellular carcinoma,and their mitochondrial DNA were extracted. Polymerase chain reaction （PCR） and direct sequencing were applied to study the mitochondrial DNA D-loop region. Results The mutation rates of mitochondrial DNA D-loop region were 40. 0% （16/40） in cancer tissue,There were 34 mutational sites in our study with 16 sites of point mutation,5 sites of insertion,and 13 sites of deletion. Two variations were considered as new polymorphisms that were not recorded in data bank. Conclusion The D-loop region of mitochondrial DNA is a highly polymorphic and mutable region and the mutations rate is relatively high in patients with hepatoceUular carcinoma.