结直肠癌组织中线粒体DNA D-环区突变的研究  

Study on the Mitochondrial DNA D-loop Region Mutation in Tissues of Colorectal Cancer

作　　者：崔海宏 韩英[2] 周志勇[2] 曹建彪[2] 李恕军[2] 范如英[2] 杨欣艳[2] 王继恒[2] 

机构地区：[1]解放军军区进修学院研究生队,100853 [2]北京军区总医院消化科

出　　处：《胃肠病学》2008年第11期663-666,共4页Chinese Journal of Gastroenterology

摘　　要：背景:近年线粒体DNA与肿瘤之间的相关性已成为新的研究热点,目前已在多种恶性肿瘤或癌前病变中检测到线粒体突变。目的:研究线粒体DNAD-环区在结直肠癌组织中的突变情况,探讨其在结直肠癌发生、发展中的作用。方法:以聚合酶链反应(PCR)扩增40例结直肠癌患者肿瘤组织和癌旁组织的线粒体DNAD-环区,扩增产物直接测序。结果:40例结直肠癌患者中,共发现50个D-环区多态性,其中2个为BLAST数据库中未记录的新多态性。14例患者存在线粒体DNAD-环区突变,突变率为35%,突变位点12个,其中9个点突变,2个微卫星不稳定,1个缺失。结论:结直肠癌组织线粒体DNAD-环区具有高度多态性和高突变率,可能与结直肠癌的发生、发展有关。Background： The relationship between mitochondrial DNA and tumor has become a hot spot of study recently. Mutations in mitochondria have been found in many malignant tumors or precancerous lesions. Aims： To investigate the mitochondrial DNA D-loop region mutation in tissues of colorectal cancer, and to appraise its role in the pathogenesis and development of colorectal cancer. Methods： Mitochondrial DNA D-loop region of tumor tissue and paracancerous tissue in 40 patients with colorectal cancer were amplified by polymerase chain reaction （PCR）, and the products were sequenced directly. Results： In 40 cases of colorectal cancer, 50 polymorphisms in D-loop region were found, among which 2 were new polymorphisms that have not been recorded in BLAST database. Mutations of mitochondrial DNA D-loop region were identified in 14 patients （35%） with 12 mutational sites, including 9 point mutations, 2 microsatellite instabilities and 1 deletion. Conclusions： There is a high frequency of polymorphism and mutation in mitochondrial DNA D-loop region in colorectal cancer, and it may play an important role in the pathogenesis and development of colorectal cancer.

关 键 词：DNA 线粒体 D-环区 突变 结直肠肿瘤 多态性 单核苷酸 

分 类 号：R735.3[医药卫生—肿瘤]