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乳腺浸润性导管癌线粒体DNA D-loop区碱基突变的检测分析 被引量:4

Detection and analysis of mitochondrial DNA D-loop region mutations in breast invasive ductal cancer
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摘要 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 investigate whether the mtDNA D-loop mutation plays a role in the invasive ductal breast cancer. METHODS:The matched distant normal and tumor tissues from 20 invasive ductal breast cancer patients were analyzed by PCR and DNA sequencing,with special attempt to characterize the spectrum of mtDNA D-loop somatic mutations and their potential significance in cancer diagnosis and development were evaluated. RESULTS:There were mtDNA D-loop mutations in 11 invasive ductal breast cancer tissues,and there were higher rate of mtDNA D-loop mutations in some place. CONCLUSIONS:There are higher rates of mtDNA D-loop somatic mutations in cancerous tissues compared with in distant normal tissues. Based on the mtDNA mutation pattern in tissues of breast cancer observed in this study,its concluded that mtDNA D-loop mutations play a role in the invasive ductal breast cancer.
出处 《中华肿瘤防治杂志》 CAS 2009年第24期1922-1924,共3页 Chinese Journal of Cancer Prevention and Treatment
基金 首都医学发展科研基金(2007-2050) 十一五重大专项(2008ZX10001-007)
关键词 乳腺肿瘤 DNA 线粒体 突变 breast neoplasms DNA mitochondrial mutation
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