浸润性乳腺癌中mtDNA HV2区突变及意义

Mutation and Significance of mtDNA HV2 Region in Invasive Breast Cancer

目的 检测乳腺癌患者mtDNA D-loop环HV2区体细胞性突变并探讨它在肿瘤发生中的作用.方法 采用聚合酶链反应-单链构像多态性(PCR-SSCP)的方法对20例浸润性乳腺导管癌组织和癌旁正常组织的mtDNA非编码区D-loop环HV2区进行分析,将出现异常条带所有标本进行基因测序.结果 经PCR-SSCP检测,在20例乳腺癌mtDNA中共发现7例出现异常条带;测序结果显示,7例测序标本中,HV2区共检测到31个新的突变位点,其中有3个属于微卫星不稳定性(microsatellite instability,MSI),7例移码突变,其余为点突变(point mutation),7个位点位于复制和转录的区域.结论 浸润性乳腺导管癌mtDNA HV2区是一个高度多态性和突变性的区域,它与乳腺癌的发生、发展有重要关系.

Objective To detect the effect of mutations of HV2 region of D-loop in mtDNA of the breast cancer.Methods It analysed the HV2 region of D-loop in mtDNA in the 20 cases invasive ductual breast carcinoma and 20 cases paracarcinoma tissues by PCR and PCR-single stranded conformation polymorism.Results The 7 cases exceptional bands were found from 20 breast carcinoma in all of the samples by PCR-SSCP;and the sequencing results indicated that 31 new HV2 mutations were found in 7 sequencing specimens,the 3 of them were mitochondrial microsatellite instability(MSI);the 7 of them were frameshift mutations;others were point mutation;and the 7 of them located in the region of mtDNA replication and transcription.Conclusion The mtDNA HV2 region is a highly polymorphic and mutatble region,that could be some relations in the breast carcinoma development.