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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。
Objective To investigate the mitochondrial DNA somatic mutation in Chinese breast cancer. Methods The whole mitochondrial DNA of 54 Chinese breast cancer tissues and matched normal tissues was amplified by PCR and mutated by temperature gradient gel electrophoresis. The results showed that there were different types of electrophoresis bands in tumor and paired normal tissues The altered fragments are sequenced to identify the type of mutation. Results Twenty-four of 54 tumors (37.0%) had somatic mutations with a total of 39 mutations with an average mutation density of 2.35 / 100 bases. The mutation density in D-loop was the highest, Ten of them had C insertion or deletion mutations at 30 3 ~ 30 9 sites (18.5 1%). Conclusion Mitochondrial DNA somatic mutations are a common phenomenon in Chinese human breast cancer and may play an important role in tumorigenesis.