线粒体基因5个位点与2型糖尿病早发的关联研究  

Study on the associaion of five loci in mitochondrial DNA with early-onset type 2 diabetes mellitus

作　　者：熊燏[1] 周新[1] 钱士匀[2] 刘兵[3] 杨艳[1] 刘松梅[1] 

机构地区：[1]武汉大学中南医院基因诊断中心,430071 [2]海南医学院医学检验系 [3]湖北黄石市中心医院胸外科

出　　处：《中国糖尿病杂志》2008年第10期589-591,共3页Chinese Journal of Diabetes

基　　金：国家自然科学基金资助项目(30672012);湖北省科技攻关计划资助项目(2006AA301C07)

摘　　要：用PCR-RFLP及DNA测序方法对湖北省汉族人群无血缘关系的102例发病年龄≤45岁2型糖尿病患者及104例正常对照个体的线粒体DNA tRNA Leu(UUR)基因及ND-1基因5个位点进行突变分析。实验组检出3714(A→G)突变2例,两组间仅nt3316(G→A)突变的发生率有统计学差异。推测该位点变异可能与某些核基因或环境因素协同与汉族人群中的线粒体糖尿病的早发及发展有关。PCR-RFLP and DNA sequencing were used to investigate mitoehondrial DNA tRNA Leu （UUR）gene/ND-lgene mutations at five positions （nt3243,3316,3394, a593 and 3714） in 102 cases with early-onset type 2 diabetes mellitus and 104 healthy controls in Chinese Han population. Mutation at nt3714 A→G was first reported in patients with early-onset type 2 diabetes mellitus. There was significant difference between the two groups in the 3316 G→A mutation frequency （P〈0.05）. The mutation at nt 3316 in DNA ND-1 gene might play a role in the interactions between some nuclear DNA and environmental factors in Chinese early-onset mitochondrial diabetes.

关 键 词：线粒体DNA 突变 糖尿病 2型 早发 线粒体糖尿病 

分 类 号：R587.1[医药卫生—内分泌] R394[医药卫生—内科学]