糖尿病患者线粒体DNA片断基因突变的研究  

Research onthe association of 3161-3610 gene mutation of mitochondrial DNA with diabetes mellitus

作　　者：施柏林 王粹芳[2] 崔之础[2] 白沂涛[3] 

机构地区：[1]江苏省海安县墩头中心卫生院,226691 [2]南通大学附属医院 [3]中国科学院上海植物生理生态研究所

出　　处：《齐齐哈尔医学院学报》2010年第9期1349-1350,共2页Journal of Qiqihar Medical University

摘　　要：目的了解糖尿病(DM)患者线粒体DNA(mtDNA)3161-3610基因突变情况及临床特点。方法提取104例DM患者和50例正常无DM家族史对照者,空腹外周血mtDNA,用聚合酶链反应扩增3161-3610基因片段直接测序。结果 104例DM患者有2.88%同时出现mtDNA3497C→T和3571C→T点突变和3290T→C点突变,1.92%出现3421G→A基因突变。结论提示mtDNA3497C→T和3571C→T点突变以及3290T→C和3421G→A点突变可能与DM有关。Objective To investigate the incidence and clinical characteristics of mitochondrial DNA（mt DNA）3161-3610 gene mutation in diabetic patients.Methods 104 patients with diabetes mellitus（DM）and 50 controls with normal glucose tolerance and absence of DM family history were included.The target fragments were amplified by polymerase chain reaction.Genetic analyses were performed in all of them.Clinical analyses were performed in patients with the point mutation.Results In diabetic patients,the frequencies of point mutation 3497C→T with 3571C→T,3290 T→C and 3421G→A in mt DNA were 2.88% and 1.92% respectively,but none in controls.Most of the patiens with those points mutation had normal blood pressure and leveles of TC,TG,but had insulin resistance.3/4 patients with point mutation.Conclusions The mt DNA 3497C→T with 3571C→T,3290 T→C and 3421G→A points mutation are related to DM.

关 键 词：糖尿病 线粒体 序列检测 基因突变 

分 类 号：R734.2[医药卫生—肿瘤]