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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DNAD-loop区中,发生突变16例(40.0%),共发现突变位点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。
Objective To investigate the mutation of D-loop gene in mitochondrial DNA of hepatocellular carcinoma. Methods 40 cases of hepatocellular carcinoma and its corresponding paracancerous tissues were selected. The corresponding peripheral venous blood was collected and the mitochondrial DNA was extracted for PCR amplification and sequencing. Results In 40 cases of hepatocellular carcinoma, mitochondrial DNA-loop region was found to be mutated in 16 cases (40.0%). A total of 34 mutation sites were found, of which 16 were point mutations, 5 were inserted and 13 Site missing; In addition, two new polymorphic sites were found. Conclusion Mitochondrial DNA D-loop region is a highly polymorphic and mutated region, and has a high mutation rate in hepatocellular carcinoma.