口腔癌线粒体DNA D-loop环区HVRⅠ的功能突变  

The function study of HVRⅠ in the D-loop of mtDNA in oral squamous cell carcinoma

作　　者：韩国栋[1] 袁荣涛[1] 贾暮云[1] 王耀钟[1] 

机构地区：[1]青岛大学医学院附属医院口腔颌面外科,266003

出　　处：《现代口腔医学杂志》2010年第2期121-124,共4页Journal of Modern Stomatology

摘　　要：目的研究口腔颌面部鳞状细胞癌的线粒体DNA(mitochondria DNA,mtDNA)复制控制区(D-Loop)HVRⅠ的突变情况。方法7例口腔鳞状细胞癌患者,取癌组织、癌旁组织及正常粘膜,提取线粒体DNA(mtDNA),对其D环区HVRⅠ进行PCR扩增和测序分析,与GENBANK人类同源线粒体序列对比,寻找突变位点。结果在7例鳞癌组织中共发现3例突变,突变率为43%,其中突变位点共51个,A/G或C/T为13个,A、G转换为C、T为39个;碱基缺失12个,插入突变为6个。癌组织和癌旁组织中共同存在19个突变位点。在癌旁组织中发现突变共28个,A/G或C/T为8个,A、G转换为C、T为16个;碱基缺失4个,插入突变为1个。结论口腔癌线粒体DNA D环区HVRⅠ突变率较高,可能与口腔癌的发生相关。Objective To investigate the somatic mutations of HVRⅠ（hypervariable Region Ⅰ） in the D-loop of mtDNA in oral squamous cell carcinoma（OSCC）.Methods The HVRⅠin D-loop region of mtDNA of tumor tissue and adjacent nonneoplastic tissue in 7 OSCC cases was amplified by PCR and sequenced,controlled with normal oral mucosa tissue.The sequences were analyzed to find the mutations compared with human homology sequence in GenBanK.Results A total of 51 mutations of mtDNA HVRⅠin OSCC were found in 3 cases（3/7,43%）,in which 13 mutations were A/G and C/T,39 mutations were AG→CT or CT→AG,12 mutations were single-base deletion,6 mutations were insertion mutations.Nineteen mutations of mtDNA were same both in OSCC and adjacent nonneoplastic tissues.Twenty-eight mutations were found in mtDNA in adjacent nonneoplastic tissues,in which 8 mutations were A/G and C/T,16 mutations were AG→CT or CT→AG,4 mutations were single-base deletion,and 1 mutation was insertion mutations.Conclusion The mutations rate of HVRⅠin mtDNA D-loop region of OSCC was high.It suggested that the HVRⅠ in D-loop region of mtDNA might play a significant role in OSCC tumorigenesis.

关 键 词：鳞状细胞癌 线粒体DNA 突变 

分 类 号：R739.81[医药卫生—肿瘤]