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

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.