线粒体DNA3537A→G、4824A→G、5351A→G突变与2型糖尿病的相关性研究  

Association of the mitochondrial DNA mutations of 3537A→G,4824A→G and 5351A→G with type 2 diabetes mellitus

作　　者：罗兰[1] 杨泽[2] 程丽静[3] 孔放[2] 高政南[1] 

机构地区：[1]大连市中心医院内分泌科,116011 [2]大连医科大学附属第二医院肾内科 [3]卫生部老年医学研究所

出　　处：《中国糖尿病杂志》2009年第2期114-115,共2页Chinese Journal of Diabetes

基　　金：国家重点基础研究发展规划973计划资助项目(2006CB503901);国家人类遗传资源共享平台建设资助项目(2006DKA21301)

摘　　要：目的研究T2DM患者线粒体ND1基因3537A→G和ND2基因4824A→G、5351A→G突变与T2DM的相关性。方法应用PCR-RFLP技术检测145例T2DM和334例正常对照者(NC)线粒体DNA(mtDNA)3537A→G、4824A→G、5351A→G突变情况。结果 NC组mtDNA 4824A→G突变率高于T2DM组(P<0.05)。3537A→G及5351A→G突变率在两组中无统计学差异(P>0.05)。结论 mtDNA 4824A→G突变可能为T2DM患病的保护因素。3537A→G及5351A→G突变可能与T2DM不相关。Objective To evaluate the association between mutations of mitochondrial DNA at 353TANG, 4824A→G, 5351A→G and type 2 diabetes mellitus in Dalian area. Methods PCR-RFI.P was used to detect the 353TANG, 4824A→G, 5351A→G mutations of mitochondrial DNA（mtDNA） in 145 patients with type 2 diabetes mellitus and 334 non-diabetes subjects with normal glucose tolerance without family history of T2DM in Dalian area. Results The prevalence of mitochondrial DNA 4824A→G mutation was lower in T2DM group than in control group[4.1% （6/145）][10.20% （34/334）]（X^2= 4.82, P〈0.05）. However the prevalence of 3537A→G[1.4% （2/145） vs 4.2% （14/334）] and 5351A→G mutation [4.8% （7/145） vs 2.1% （7/334）] did not reach a significant difference between the two groups （P〉0.05）. Conclusions The mtDNA mutation of 4824A→G may be a protective factor for the development of type 2 diabetes mellitus.

关 键 词：糖尿病 2型 线粒体DNA 突变 

分 类 号：R587.1[医药卫生—内分泌] R596[医药卫生—内科学]