2型糖尿病患者胰高糖素受体基因Gly40Ser突变的检测  

Screening for the Presence of the Gly40Ser Mutation in the Glucagon Receptor Gene in Patients with Type 2 Diabetes

作　　者：宋滇平[1] 赵淮[1] 王玉明[1] 段勇[1] 杨慧英[1] 杨绍稳[1] 刘华[1] 张襄昆[1] 

机构地区：[1]昆明医学院第一附属医院,昆明650032

出　　处：《昆明医学院学报》1999年第4期11-14,共4页Journal of Kunming Medical College

基　　金：国家人事部非教育系统留学回国人员科技活动择优资助经费;云南省科委应用基础研究基金

摘　　要：为探讨中国人2型糖尿病与胰高糖素受体(GCG-R)基因40号密码子的错义突变(Gly40Ser)是否存在关联,运用聚合酶链反应-限制性片段长度多态性(PCR-RFL-P)分析方法在160例无亲缘关系之中国云南昆明地区汉族人(2型糖尿病患者100例,健康对照者60例)中对GCG-R基因Gly40Ser突变进行了检测.结果显示:所有研究对象中无论是2型糖尿病患者还是健康对照者均无一例存在GCG-R基因Gly40Ser突变,其GCG-R基因40号密码子的基因型均表现为Gly40/Gly40之纯合子,其Gly40和Ser40等位基因频率均分别为1和0.2型糖尿病患者与健康对照者两组之间无任何差异.提示在中国云南昆明地区的汉族人中。In order to probe into the relationship between the Gly40Ser mutation in the glucagon receptor(GCG-R) gene and type 2 diabetes mellitus in Chinese, 100 unrelated patients with type 2 diabetes and 60 nondiabetic control individuals without family history of diabetes were screened for the presence of the Gly40Ser missense mutation in the GCG-R gene by means of polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) in a Chinese population from Kunming. The Gly40Ser mutation was not found in any of the 160 Chinese subjects studied. All of the subjects, including type 2 diabetics and the controls, were the homozygous individuals with wild-type genotype Gly40/Gly40. No differences in the frequencies of allele Gly40 and allele Ser40 were observed between diabetic patients and control persons. The results suggested that Gly40Ser variation in the GCG-R gene is not associated with type 2 diabetes in Chinese.

关 键 词：Ⅱ型 糖尿病 胰高糖素受体 基因突变 

分 类 号：R587.2[医药卫生—内分泌]