线粒体基因组D-Loop区基因多态性与2型糖尿病的相关性  

Mitochondrial D-Loop gene polymorphisms in the patients with type 2 diabetes mellitus

作　　者：陈芳建[1] 俞红[1] 樊璠[1] 吕建新[1] 

机构地区：[1]温州医学院,浙江省医学遗传学重点实验室,温州325035

出　　处：《遗传》2009年第3期265-272,共8页Hereditas（Beijing)

基　　金：国家自然科学基金项目(编号:30470958)资助

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。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 various forms of polymorphism in mitochondrial DNA D-Loop gene in a Zhejiang population, some of which are related to diabetes mellitus.

关 键 词：线粒体基因组 D—Loop区基因 2型糖尿病 变异 

分 类 号：R587.1[医药卫生—内分泌]