胃癌线粒体DNAD-loop区突变的检测和分析

Mutations in the D-loop region of mitochondrial DNA in gastric cancer

目的:探讨线粒体DNA(mtDNA)的D环(D-loop)区16104-191bp序列在胃癌中的突变情况。方法:选择12例胃癌病人的肿瘤组织及其邻近的正常胃粘膜,用PCR方法将mtDNA D-loop区同时扩增测序。结果:在12例胃癌组织中有6例存在mtDNA D-loop区16104-191bp片段的突变,突变率为50%,总计有16个突变位点。12例中共发现28个多态性变化,其中有3个基因库未记载的新的多态性变化。结论:mtDNA D-loop区是一个具有高度多态性和突变性的区域,该区在胃癌病人中是mtD-NA突变的热区。

Objeetive： To investigate the variations of mitoohondrlal D-loop region in gastric cancers. Moth.dis ：The D-loop region of 12 gastric cancers together with the adjacent normal tissues were amplified by PCR and sequenced. Results. Among the 12 cases,16 mutations end 28 polymorphisms were identified with the mutations rate of 50%. There were 3 new polymophisms which were not reported previously in the GeneBank among the 28 ioolymorphisms. Conelusion： We think that the mitochondrial DNA D-loop region is a highly polymorphric and mutable region and the mutation rate is relatively high in patients with gastric cancer.