中国人乳腺癌患者线粒体基因体细胞性突变
The somatic mutations of mitochondrial genome in Chinese patients with breast cancer
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摘要: 目的 探讨中国人乳腺癌线粒体DNA体细胞性突变特征。方法 对 5 4例中国人乳腺癌组织和匹配的正常组织的全线粒体基因进行PCR扩增和时相温度梯度凝胶电泳突变筛选分析, 对显示在肿瘤和配对正常组织中具有不同类型电泳带型变化的片段进行测序以辨明其突变类型。结果 5 4例肿瘤中有 2 0例 (37.0 4 % )具有体细胞性突变, 总突变数为 39个, 平均突变密度为 2 .35个 / 10 0 0碱基, D环区突变密度最高, 其中 10个肿瘤具有 30 3～ 30 9位点的C插入或缺失突变 (18.5 1% )。结论 线粒体DNA体细胞性突变在中国人乳腺癌中是一个普遍现象, 并可能在肿瘤的发生过程中扮演着重要的角色。Abstract: Objective To explore the characteristics of somatic mitochondrial DNA (mtDNA) mutations for Chinese patients with breast cancer. Methods The entire mitochondrial genomes in 54 tumor samples and paired normal tissues from Chinese patients with breast cancer were amplified. The temporal temperature gradient gel electrophoresis method was used to screen the somatic mtDNA mutations. DNA fragments showing different banding patterns between normal and tumor mtDNA were sequenced to identify the mutations. Result...
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