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目的研究原发性宫颈癌组织中线粒体DNA(mtDNA)基因突变情况及其在肿瘤发生、发展中的作用。方法选择24例原发性宫颈癌组织及其邻近的癌旁组织,用PCR的方法将线粒体DNAD-Loop区同时扩增并测序。结果24例子宫颈癌患者的D-Loop区中,共有9例存在30个突变位点,总突变率为37.5%(9/24)。其中有8个属于微卫星不稳定,新发现13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,在宫颈癌中突变率较高。
Objective To study the mutation of mitochondrial DNA (mtDNA) gene in primary cervical cancer and its role in tumorigenesis and progression. Methods Twenty-four primary cervical cancer tissues and adjacent tissues were selected. The mitochondrial DNA-Loop region was amplified by PCR and sequenced simultaneously. Results There were 30 mutation sites in 9 cases of D-Loop in 24 cases of cervical cancer, with a total mutation rate of 37.5% (9/24). Eight of them belonged to microsatellite instability, and 13 new polymorphic sites were found. Conclusion The mitochondrial D-Loop region is a highly polymorphic and mutated region with a high mutation rate in cervical cancer.