2型糖尿病与正常人群中β_3肾上腺素能受体基因Trp64Arg多态性表型特征  

Phenotypic characteristics of the Trp64Arg polymorphism in the beta 3-adrenergic receptor gene in type 2 diabetes and normal subjects

作　　者：包爱民[1] 肖尚喜[2] 王长江[1] 杨明功[1] 

机构地区：[1]安徽医科大学第一附属医院内分泌科,230022 [2]安徽医科大学第一附属医院基因诊断室,230022

出　　处：《中国糖尿病杂志》2000年第1期13-16,共4页Chinese Journal of Diabetes

基　　金：安徽省教委自然科学基金

摘　　要：目的　研究中国人群 β3 肾上腺素能受体基因 Trp64 Arg错义突变频率 ,并了解该突变对 2型糖尿病临床特征的影响。方法　应用 PCR RFLP技术检测了相互间无一级亲属关系的 12 4例 2型糖尿病患者及 13 8例非糖尿病对照人群中 β3 肾上腺素能受体基因 Trp64 Arg错义突变 ;同时检查体重指数、腰臀比例、血压 ,测定血脂及 OGTT或馒头餐试验中 0分钟及 12 0分钟血糖及胰岛素。结果　非糖尿病人群中 Trp64 Arg等位基因频率为 0 17;突变频率在糖尿病与非糖尿病之间相比无显著性差异 (P >0 0 5 ) ;突变与否间上述临床特征相比无显著性差异 (P >0 0 5 )。结论　该突变至少在其杂合子型可能不是中国人散发 2型糖尿病的主要决定因素 ;纯合子突变型可能导致 2型糖尿病早发 ,有待今后积累资料深入研究。Objective To investigate whether the missense mutation (Trp64Arg) of beta 3 adrenergic receptor exists among Chinese subjects and further to investigate the relationship between the mutation and the clinical characteristics of type 2 diabetes mellitus.Methods The body mass, waist hip ratio, blood pressure, blood lipids and blood glucose and insulin of 0 min and 120 min in OGTT or eating steamed bread tolerance test were detected in a population of 124 type 2 diabetic patients and 138 non diabetic subjects, among whom there was no first degree relative relationship. Polymerase chain reaction and the restriction fragment length polymorphism analysis were used to determine the wild, heterozygous and homozygous forms.Results The allelic frequency of the mutation was 0 17 in non diabetic subjects; The mutation frequency of the three genetic types were similar between the diabetics and non diabetics; Clinical features had no significant differences when Trp64Arg heterozygotes were compared with Trp64 homozygotes.Conclusion The β 3AR Trp64Arg mutation at least in its heterozygous form is not a major determinant for random type 2 diabetes; Homozygous form may result in early onset of type 2 diabetes.

关 键 词：β3AR 聚合酶链反应 Trp64Arg 糖尿病 

分 类 号：R587.1[医药卫生—内分泌]