口腔鳞状细胞癌线粒体DNA的HVRⅢ区突变的研究(英文)  

The Mutations of the D-loop HVRⅢ region of Mitochondrial DNA in Oral Squamous Cell Carcinoma

作　　者：王耀钟[1] 贾暮云[1] 袁荣涛[1] 卜令学[1] 

机构地区：[1]青岛大学医学院附属医院口腔颌面外科,山东青岛266003

出　　处：《现代生物医学进展》2009年第20期3831-3835,共5页Progress in Modern Biomedicine

摘　　要：目的:检测口腔鳞状细胞癌患者线粒体DNA复制控制区(mtDNA D-loop)高变Ⅲ区(hypervariable regionⅢ,HVRⅢ)的突变情况,并探讨其意义。方法:以口腔鳞状细胞癌患者癌旁组织及正常组织作为对照,对7例口腔鳞状细胞癌组织样本的mtDNA D-loop HVRⅢ区进行PCR扩增和测序分析。结果:在7例患者的癌组织、癌旁组织、正常组织样本中共发现72个(56种)核苷酸改变,其中51个(26种)为核苷酸多态性改变;3个肿瘤组织样本中共发现21个突变,其中16个位于HVRⅢ区范围内;癌旁组织及正常组织未发现突变;口腔鳞状细胞癌的mtDNA D-loop HVRⅢ区突变率为42.9%(3/7)。结论:mtDNA D-loop HVRⅢ区的变异可能与口腔鳞状细胞癌的易感性有一定的联系;本研究为寻找新的肿瘤基因诊断和肿瘤遗传易感性的标志物提供了依据。Objective： To investigate the frequency of mitochondrial DNA （mtDNA）D-loop hypervariable region Ⅲ mutations in seven cases with oral squamous cell carcinoma （OSCC）. Methods： The mtDNA of D-loop HVRⅢ region in seven cases with OSCC, matched with paracancerous tissues and normal mucosa tissues from the same case, were amplified by PCR, then were detected by direct sequencing. Results： 72 （47 species） nucleotide changes, with 51 （26 species） nucleotide polymorphism, were found in the cancer tissues, paracancerous tissues and normal mucosa tissues of 7 oral squamous cell carcinomas; 21 mutations, with 16 located within the HVR Ⅲ region, were found in 3 tumor tissue samples; no mutation was found in all paracancerous tissues and normal mucosa tissues; The mtDNA D-loop HVR Ⅲ District mutation rate was 42.9% （3/7） in OSCC. Conclusions： mtDNA D-loop HVRⅢ regions are highly polymorphoric and mutable in oral squamous cell carcinoma. It suggested that the mtDNA of D-loop HVRIII regions might play a significant role in the tumorigenesis of oral squamous cell carcinoma.

关 键 词：鳞状细胞癌 线粒体DNA 突变 

分 类 号：R739.8[医药卫生—肿瘤]