mtDNA Cyt-b、ATPase6在浸润性乳腺癌中的突变及意义

Mutations of mitochondrial Cyt-b and ATPase6 in invasive breast carcinoma and their significance

目的检测线粒体DNA(mtDNA)Cyt-b、ATPase6在浸润性乳腺癌组织和癌旁组织的突变情况,寻找特异性位点。方法采用PCR结合基因测序方法,对延边朝鲜族地区浸润性乳腺癌患者(30例)的癌组织及癌旁组织进行mtDNA Cyt-b、ATPase6基因测序,对照人线粒体DNA剑桥修定序列,分析其突变情况。结果在研究对象的乳腺癌mtDNA中共发现Cyt-b基因区有6个高突变发生率位点,即A15326G、C14766T、G15301A、G15043A、T14783C、C15402T,其中A15326G、C14766T突变率最高;而ATPase6基因区共发现3个高突变发生率位点,即C8673T、A8729G、T8955C,其中C8673T、A8729G突变率最高。结论 mtDNA Cyt-b、mtDNA ATPase6高突变发生位点可为浸润性乳腺癌的诊断及乳腺癌细胞线粒体功能评价提供有价值的参考。

Objective To detect the mutations of mitochondrial DNA（mtDNA） Cyt-b and ATPase6 in invasive breast cancer tissues and ancer-adjacent normal tissues,and to determine the specific sites.Methods The polymerase chain reaction（PCR） and the gene sequencing were used to detect mtDNA Cyt-b,ATPase6 gene sequencing in each Yanbian Korean 30 cases of invasive breast cancer tissues and cancer-adjacent normal tissues.We compared with the human mtDNA of Cambridge revised sequence to analyze the mutations.Results In the 30 cases with breast cancer,six high mutation rate sites were found in the mtDNA Cyt-b gene area.They were A15326G,C14766T,G15301A,G15043A,T14783C,C15402T,in which A15326G and C14766T mutation rates were the highest.ATPase6 area were found three high mutation rate sites.They were C8673T,A8729G,T8955C,in which C8673T and A8729G mutation rates were the highest.Conclusion The high mutation rate sites in mtDNA Cyt-b,mtDNA ATPase6 provide valuable reference for diagnosing the invasive breast cancer and evaluating breast cancer cells mitochondrial function.