RFLP和DGGE技术探讨胰高糖素受体基因第二外显子与中国人NIDDM的关系

The Codon 40 Variation in the Glucagon Receptor Gene and Type Ⅱ Diabetes Mellitus in Chinese by RFLP and DGGE

目的 探讨胰高糖素受体 ( GCG- R)基因第二外显子与中国人 型糖尿病是否存在关联。方法 运用聚合酶链反应—限制性片段长度多态性 ( PCR- RFLP)和聚合酶链反应—变性梯度凝胶电泳 ( PCR-DGGE)分析方法在 2 0 0例无亲缘关系之中国云南昆明地区汉族人 ( 型糖尿病患者 1 2 0例 ,健康对照者80例 )中对 GCG- R基因第二外显子进行检测。结果 所有研究对象中无论是 型糖尿病患者还是健康对照者在 GCG- R基因第二外显子上均无一例存在突变 ,其 GCG- R基因 40号密码子的基因型均表现为Gly40 /Gly40之纯合子。结论 提示在中国云南昆明地区的汉族人中 ,GCG- R基因 Gly40 Ser突变与 型糖尿病不存在任何关联。

Objective To probe into the relationship between the exon 2 variation in the glucagon receptor (GCG-R) gene and type Ⅱ diabetes mellitus in Chinese.Methods A total of 200 unrelated Chinese subjects (120 patients with type Ⅱ diabetes and 80 nondiabetic control individuals without family history of diabetes) from Kunming were screened for the presence of the Gly40Ser missense mutation in the GCG-R gene by use of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and by use of polymerase chain reaction-denaturing gradient gel electrophoresis (PCR-DGGE).Results The Gly40Ser mutation was not found in any of the 200 Chinese subjects studied.All of the subjects,including type Ⅱ 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.Conclusion The results suggested that Gly40Ser variation in the GCG-R gene is not associated with type Ⅱ diabetes in Chinese.