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目的:研究乳腺癌患者的癌组织和癌旁正常组织线粒体DNA(mtDNA)D-loop区碱基突变差异,以探讨mtDNA D-loop区碱基突变与乳腺癌发生发展的相关性。方法:采用聚合酶链反应和DNA测序相结合的方法,对20例乳腺浸润性导管癌患者癌组织和癌旁组织线粒体D-loop区进行扩增并测序分析。结果:11例乳腺癌患者癌组织mtDNA D-loop区存在突变,类型以点突变为主,同时发现在线粒体DNA的某些位点发生突变的频率明显较高。结论:mtDNA D-loop区碱基在癌组织中的突变率较癌旁正常组织显著增高,提示mtD-NA D-loop区碱基突变可能在乳腺癌发生发展中发挥重要作用。
Objective: To study the base mutation of mitochondrial DNA (mtDNA) D-loop region in breast cancer patients and adjacent normal tissues to investigate the relationship between mtDNA D-loop mutation and the occurrence and development of breast cancer. Methods: The mitochondrial D-loop region of 20 cases of invasive ductal carcinoma of the breast and its adjacent tissues were amplified and sequenced by polymerase chain reaction and DNA sequencing. Results: The mutations in the mtDNA D-loop region of 11 breast cancer patients were found. The types of the mutations were mainly point mutations. At the same time, some sites of mitochondrial DNA mutations were found to be significantly higher. CONCLUSION: The mutation rate of mtDNA D-loop base in cancer tissue is significantly higher than that in adjacent normal tissues, suggesting that base mutation in mtD-NA D-loop may play an important role in the development of breast cancer.