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目的 探讨乳腺癌的线粒体基因D环区的体细胞性突变和多态性变异特征。方法 PCR扩增和测序检查乳腺癌组织和相应的正常组织的线粒体基因D环全序列 ,并与基因文库和线粒体文库记录的剑桥序列进行对比分析。结果 在 73例肿瘤中共发现 2 70个种系性变异 ,2 8例 ( 38.3% )肿瘤发现体细胞性突变共 4 4例次 ,其中 2 2 .7%位于第一高变区 ,6 5 .9%位于第二高变区 ,保留序列区II的 30 3～ 30 9位点是突变高发热点。结论 乳腺癌的mtDNAD环区是一个具有高频突变率和高度多态性的不稳定区域
Objective To investigate the somatic mutation and polymorphic variation of mitochondrial D loop in breast cancer. Methods Complete sequence of mitochondrial DNA D loop in breast cancer tissues and corresponding normal tissues was detected by PCR amplification and sequencing, and compared with the Cambridge sequence recorded by gene library and mitochondrial library. RESULTS: A total of 2 70 germline mutations were found in 73 tumors. Somatic mutations were found in 28 (38.3%) tumors of 44 cases, of which 22.7% were located in the first hypervariable region (65%). 9% is located in the second hypervariable region. The 30 3 ~ 30 9 loci of the reserved sequence region II are the mutation hot spots. Conclusion The mtDNAD loop region of breast cancer is an unstable region with high frequency mutation rate and high polymorphism