线粒体DNA 3160～3755区域基因突变与2型糖尿病的关系  

Relationship between the mitochondrial DNA 3160-3755 region gene mutations and type 2 diabetes mellitus

作　　者：郑寿焕[1] 杨秀丽[2] 姚庆春[2] 李兰[1] 车惠英[1] 王敬衔[1] 

机构地区：[1]延边大学附属医院内分泌科,吉林延吉133000 [2]吉林油田总医院内分泌科,吉林松原138000

出　　处：《中国医药导报》2013年第5期7-9,F0003,共4页China Medical Herald

基　　金：国家自然科学基金资助项目(编号:30560054)

摘　　要：目的研究线粒体DNA3160-3755区域基因在延边地区2型糖尿病（T2DM）患者中的突变情况，探讨该区域线粒体基因突变与2型糖尿病的关系。方法应用聚合酶链反应-限制性片段长度多态性（polymorphismchainreaction-restrictionfragmentlengthpolymorphism，PCR-RFLP）技术和直接测序法对延边地区人群108例正常健康体检者、328例T2DM患者（其中2例合并耳聋），进行线粒体DNA3160-3755区域基因突变筛查。结果线粒体DNA3316G-A在糖尿病组和正常对照组中的突变率分别为3．7％和3．8％。两组间差异无统计学意义（P〉0．05）；3394T→C在糖尿病组和正常对照组中的突变率分别为7．3％和1．9％，两组间差异有统计学意义（P〈0．05）；在糖尿病组及正常对照组中均未检测到线粒体DNA3243A→G、3593T→C和3714A→G突变。结论线粒体DNA3316G→A突变与延边地区T2DM的发生无关；线粒体DNA3,394T→C突变与延边地区T2DM的发生有关；线粒体DNA3423A→G，3593T→C，3714A→G突变在延边地区T2DM中的发生率为0，提示上述位点基因突变率极低。Objective To study the prevalence of mitochondrial DNA （mtDNA） 3160-3755 region gene mutations in patients with type 2 diabetes mellitus in Yanbian region, and explore the relationship between the mitochondrial DNA genetic mutations and type 2 diabetes mellitus. Methods 108 healthy controls with normal glucose tolerance and 328 patients with type 2 diabetes （2 patients with deafness） in Yanbian region were recruited for the study. The gene muta- tions in mtDNA 3160-3755 regions were screened by polymerase chain reaction-restriction fragment length polymor phism （PCR-RFLP）, then mutations of mtDNA were confirmed by DNA direct sequencing. Results In the diabetic group and the control group, the mutation rates of 3316 G-→A were 3.8% and 3.7% respectively, the difference was not sig nificant （P 〉 0.05）; however the mutation rates of 3394 T→C were 7.3% and 1.9% respectively, the difference was signif- icant （P 〈 0.05）; the mutations of mtDNA 3243 A→G, 3593 T→C and 3714 A→G were not detected both in the diabetic patients and the controls. Conclusion mtDNA 3316 G→A mutation has no relationship with type 2 diabetes mellitus in Yanbian region; while the mutation of mtDNA 3394 T→C has relationship with type 2 diabetes mellitus; the muta- tion rate of 3423 A→G, 3593 T→C, 3714 A→G was 0, which imply those mutation rates are extremely low in Yan- bian region.

关 键 词：糖尿病 线粒体基因 变异 

分 类 号：R587.1[医药卫生—内分泌]