DNA聚合酶β基因启动子在食管癌组织中的突变分析  

Mutation analysis of DNA polymeraseβgene promoter in human esophageal cancer

作　　者：李月白[1] 于雅丽[1] 赵国强[2] 王欢[1] 董子明[3] 

机构地区：[1]郑州大学基础医学院生物化学与分子生物学教研室,河南省郑州市450001 [2]郑州大学基础医学院微生物学与免疫学教研室,河南省郑州市450001 [3]郑州大学基础医学院病理生理学教研室,河南省郑州市450001

出　　处：《世界华人消化杂志》2008年第23期2649-2652,共4页World Chinese Journal of Digestology

基　　金：国家自然科学基金资助项目;No.30471952~~

摘　　要：目的:研究人食管癌组织、癌旁组织及其远端正常黏膜组织中DNA聚合酶β(DNA polymerase beta,polβ)基因启动子的突变情况.方法:采用聚合酶链反应(PCR)、DNA序列分析技术对25例食管癌患者手术切除的病变标本进行DNApolβ基因启动子序列检测,并利用DNASIS、OMIGA等软件分析测序数据.结果:25例中,食管癌组织、癌旁组织和正常黏膜组织中DNApolβ基因启动子发生突变者分别为8、6、5例,三组间突变率差异无统计学意义.在三组标本中共有35个突变点(癌组织包括18个突变点,癌旁组织包括9个突变点,正常黏膜组织8个突变点),25个点在polβ核心启动子区域,其中,-37位C→A突变出现8次;-65位G→T突变出现7次;29位T→C突变出现2次;-19位出现C的缺失和插入C突变各1次.结论:DNApolβ基因启动子突变可能与食管癌的发生和发展有关.AIM： To investigate the mutations of DNA polymerase β （polβ） gene promoter in esophageal cancer tissue, the corresponding cancer-adjacent tissue and distal normal mucosal tissue. METHODS： We examined the promoter sequence of polβ gene in tumor tissues, the corresponding cancer-adjacent tissues and normal mucosal tissues from 25 patients with esophageal cancer using polymerase chain reaction （PCR） and DNA sequence analysis. DNASIS and OMIGA softwares were used to analyze the DNA sequencing results RESULTS： The mutation of polβ gene promoter was found in 8 esophageal cancer tissues, 6 corresponding cancer-adjacent tissues and 5 normal mucosa tissues, respectively. No significant change was found among three groups. There were 18, 9 and 8 mutation points in three groups （35 mutation points in total）, respectively. Of the 35 mutation points, 25 located the core region of polβ gene promoter. In all the specimens, mutation forms of C→A at -37 nt, G→T at-65 nt, and T→C at 29 nt were found 8, 7 and 2 times, respectively. Also, the mutation form of C deletion and insertion at -19 nt was found one time, respectively. CONCLUSION： The mutation of DNA polβ3 gene promoter may be related to the carcinogenesis and development of esophageal cancer.

关 键 词：DNA聚合酶Β 启动子 食管癌 基因突变 序列分析 

分 类 号：R735.1[医药卫生—肿瘤] R737.250.2[医药卫生—临床医学]