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