线粒体基因组D_Loop区基因多态性和2型糖尿病的相关性.pdfVIP

HEREDITAS (Beijing) 2009 年 3 月, 31(3): 265―272 ISSN 0253-9772 研究报告 DOI: 10.3724/SP.J.1005.2009.00265 线粒体基因组D-Loop 区基因多态性与2 型糖尿病的 相关性 陈芳建, 俞红, 樊 , 吕建新 璠 温州医学院, 浙江省医学遗传学重点实验室, 温州 325035 摘要: 随机选取 199 例浙江地区 2 型糖尿病患者与 102 例正常对照, 采用聚合酶链反应(Polymerase chain re- action, PCR) 、基因片段直接测序来检测线粒体基因组D-Loop 区域基因变异情况, 同时分析其与主要临床指标 的关系。结果显示: 线粒体基因组D-Loop 区域为一高变异区, np73A-G 、np263A-G 、np16223C-T 、np16519T-C 为4 个高变异位点; 发现29 个未见报道的新变异位点; np193A-G、np234A-G 、np16108C-T 等变异与糖尿病家 族史有关。这表明浙江籍汉族人线粒体基因组 D-Loop 区存在大量基因多态性现象, 此区域的某些变异可能与 糖尿病的发生发展等具有一定相关性。 关键词: 线粒体基因组; D-Loop 区基因; 2 型糖尿病; 变异 Mitochondrial D-Loop gene polymorphisms in the patients with type 2 diabetes mellitus CHEN Fang-Jian, YU Hong, FAN Fan, LU Jian-Xin Zhejiang Provincial Key Laboratory of Medical Genetics, Wenzhou Medical College, Wenzhou 325035, China Abstract: Polymerase chain reaction (PCR) and direct nucleotide sequencing were used to analyze the mitochondrial D-loop gene of 199 Zhejiang patients with T2DM and 102 controls and the relationship between D-Loop gene variations and the main clinical symptoms. The mitochondrial D-Loop gene was a hypervariable area and np73A-G, np263A-G, np16223C-T, and np16519T-C were four high variations, and 29 unreported new variations were found. np193A-G, np234A-G, and np16108C-T were related to diabetes mellitus with family history. These results showed that there are vari- ous forms of polymorphism in mitochondrial DNA D-Loop gene in a Zhejiang population, some of which are related to diabetes mellitus. Keywords: mitochondrial DNA; D-Loop gene; type 2 diabetes mellitus; genovariation 线粒体(Mitochondria)是哺乳动物内存在于细胞 包括编码序列与非编码序列。后者中比较重要的是