葡萄糖激酶基因启动子区-30位点多态性与2型糖尿病的相关性研究

Study of the correlation between the variation at -30 position of glucokinase gene promoter and type 2 diabetes

目的探讨葡萄糖激酶(glucokinase,GCK)基因启动子区-30位点多态性与2型糖尿病及其各项指标之间的关系。方法运用PCR-RFLP分析方法在389例无亲缘关系的个体中对GCK基因多态性进行检测。结果在2型糖尿病患者组中GG、GA和AA基因型频率分别为63.1%、31.9%和5.0%;健康对照者组中分别为66.4%、31.8%和1.8%。结论GCK基因启动子区-30位点多态性对2型糖尿病的发生不起主要作用,但两个变异等位基因同时存在时,发生2型糖尿病的年龄有所提前,而且可不伴有肥胖。

[Objective] To investigate the association between the mutation at position -30 of the glucokinase gene promoter and type 2 diabetes and some relative index. [Methods] 389 unrelated subjects were studied by polymerase chain reaction-restriction fragment length polymorphism assay. [Result] Genotype frequency of GG, GA and AA was 63.1%, 31.9% and 5% in type 2 diabetes subjects and 66.4%, 31.8% and 1.8% in normal control subjects. [Conclusion] The variant at position -30 of the GCK gene promoter would not play a major role in the onset of type 2 diabetes, the onset year of type 2 diabetes would be earlier and the obesity would be not accompanied when the two alley gene exist in the same body.