摘要：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例測序标本中，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。

    关键词：浸润性乳腺癌；mtDNA；HV2区；聚合酶链反应-单链构像多态性

    Abstract：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 ......