中国家族性糖尿病人群中线粒体基因突变筛查  

Screening gene mutations of mitochondrial DNA in familial diabetes mellitus in Chinese population

作　　者：王遂军[1,2] 吴松华[1] 郑泰山[1] 杨震[1] 陆惠娟[1] 项坤三[1] 

机构地区：[1]上海市糖尿病研究所,上海交通大学附属上海市第六人民医院,上海市200233 [2]河南省人民医院内分泌科,河南省郑州市450003

出　　处：《中国组织工程研究与临床康复》2008年第2期360-363,共4页Journal of Clinical Rehabilitative Tissue Engineering Research

基　　金：上海交通大学医学院(原上海第二医科大学)博士点建设基金项目~~

摘　　要：目的:国外有研究发现线粒体tRNAGlu基因mt14709T→C突变和tRNASer基因mt12258C→A突变可能与糖尿病发病有关,但该突变是否与中国人群糖尿病发病相关尚未见报道。调查该突变在中国人家族性糖尿病人群中的发生率,并分析其与糖尿病发病的关系。方法:①实验对象:于2004-08/2006-05从上海市糖尿病研究所建立的"中国糖尿病家系库"中选取无亲缘关系的糖尿病家系先证者770例,另外选择同期该研究所收集的无亲缘关系的309例正常人作为正常对照组,纳入对象均为汉族人,均对实验目的知情同意,且得到医院伦理道德委员会批准。②实验方法:采用聚合酶链反应-限制性片段长度多态性方法结合基因直接测序方法检测tRNAGlu基因mt14709T→C和tRNASer基因mt12258C→A突变。③实验评估:收集两组观察对象的年龄、体质量指数、胰岛素抵抗指数等临床资料,并进行比较分析。结果:①在家族性糖尿病组中发现9例(1.17%)mt14709T→C突变,在正常对照组中发现5例(1.62%),两组间mt14709T→C突变发生率差异无显著性意义(χ2=0.348,P=0.56)。两组均未发现mt12258C→A突变。②家族糖尿病组中mt14709T→C突变携带者和非携带者之间临床特点(年龄、体质量指数、胰岛素抵抗指数)差异无显著性意义(P>0.05)。结论:线粒体tRNAGlu基因mt14709T→C突变和mt12258C→A突变可能均不是中国人线粒体糖尿病发病的致病原因,其中tRNAGlu基因mt14709T→C突变是中国人线粒体的一种基因多态。AIM： Some foreign studies show that the T to C mutation at nucleotide 14709 （mt14709） in the mitochondrial transfer RNAGIu （tRNA61u） region and the C to A mutation at nucleotide 12258 （mt12258） in the mitochondrial transfer RNA^Ser （tRNA^Ser region may be correlated to the prevalence of diabetes mellitus. However, there is no report about the correlation between these mutations and diabetes mellitus in Chinese. In this study, the prevalence of the mutation in familial diabetes mellitus in Chinese population was investigated, and the correlation between mutations and diabetes mellitus was explored. METHODS： （1）Between August 2004 and May 2006, 770 unrelated probands of diabetic pedigrees were randomly selected from the Clinical and Genetic Database ＆＆ DNA Bank for diabetes in Chinese, and 309 unrelated normal people were selected as control. All the subjects were Han people, and participated in the study voluntarily. The experiment was permitted by the Hospital Ethics Committee. （2）The T to C mutation at mt14709 in tRNA^Glu region and the C to A mutation at mt12258 in tRNA^Ser region were detected with polymerase chain reaction-restriction fragment length polymorphism analysis （PCR-RFLP） and PCR- direct-sequencing. （3）The clinical data such as age, body mass index （BMI）, and insulin resistant index, etc. were gathered and compared.. RESULTS： （1）The mt14709T→C mutation was detected in 9 diabetics （1.17%） and 5 in controls （1.62%）. The frequency of the mutation mt14709T→C was statistically not different between diabetics and controls （ x^2=0.348, P =0.56）. The mt12258 C→A mutation was not identified in the diabetic patients and the controls. （2）The clinical characteristics such as age, BMI, and insulin resistant index were not different between diabetic patients with and without the mt14709T→C mutation （P 〉 0.05）. CONCLUSION： Both mt14709T→C mutation and mt12258C→A are not the cause of diabetes in Chinese, and mt14709T→C mutation i

关 键 词：糖尿病 线粒体 基因 突变 

分 类 号：R587.1[医药卫生—内分泌]