大肠癌线粒体DNA高突变Ⅰ区及Ⅱ区突变及其功能意义  

The mutations of the D-loop hypervariable region Ⅰ and Ⅱ of mitochondrial DNA in colorectal cancer,and its significance

作　　者：姬宏莉 姬宏娟[2] 杜芳 曹小勇 马永全 

机构地区：[1]153医院肿瘤科 [2]71320部队医院

出　　处：《实用医药杂志》2012年第7期630-633,共4页Practical Journal of Medicine & Pharmacy

基　　金：广东省自然科学基金(037049)

摘　　要：目的检测大肠腺癌线粒体DNA(mtDNA)D环区的高突变Ⅰ区(HVRⅠ)及高突变Ⅱ区(HVRⅡ)的突变情况,并探讨其意义。方法以癌组织和正常组织为对照,对63例大肠腺癌组织样本中的mtDNA D环HVRⅠ及HVRⅡ进行聚合酶链反应(PCR)扩增和序列分析。结果 24例肿瘤组织样本mtDAN D环中共发现45个核苷酸改变,包括点突变、插入突变和缺失突变,突变率为38.1%,其中30个位于HVRⅠ和HVRⅡ范围内,其发生率为66.7%。在12例肿瘤组织mtDAN D环中发现21个核苷酸多态性变化,其中12个位于HVRⅠ和HVRⅡ范围内,其发生率为57.1%。结论 mtDNA D环HVRⅠ和HVRⅡ的突变与大肠癌的发生相关,在大肠癌的发生中具有重要的意义。Objective To observe the frequency of mitochondrial DNA（mtDNA） D-loop hypervariable region Ⅰ （I4VR Ⅰ ） and hypervariable region Ⅱ （HVR U） mutation in colorectal cancer tissue and their correction so as to provide the new targets for the prevention and treatment of colorectal cancer. Methods The mtDNA D loop HVR Ⅰ area and HVR Ⅱ area were amplified by polymerase chain reaction （PCR） and were sequence analyzed between cancer tissue and normal tissue in 63 cases of colorectal adenocarcinoma samples. Results The 45 nucleotide changes, including point mutations, insertion mutations and deletions, were found in mtDAN D 6rig in 24 cases of tumor tissue samples. The mutation rate was 38.1%, of which 30 nucleotide changes were located in HVR Ⅰ and HVR Ⅱ range and its rate was 66.7%; seven polymorphism sites were found in mtDAN D ring in 8cases of tumor tissue samples, of which twelve polymorphism sites were located in HVR Ⅰ and HVR Ⅱ range and its rate was 57.1%. Conclusion MtDNA D loop HVR Ⅰ and HVR Ⅱ mutations are associated with the occurrence of colorectal cancer, and the mutation has important significance in the incidence of colorectal cancer.

关 键 词：线粒体DNA 大肠腺癌 突变 多态性 

分 类 号：R730.231[医药卫生—肿瘤]