葡萄糖激酶基因启动子区-30位G/A变异与2型糖尿病的相关性研究

目的探讨葡萄糖激酶基因-30位启动子G/A变异与中国云南人2型糖尿病是否存在关联.方法运用PCR-RFLP分析方法在389例无亲缘关系之中国云南汉族人中对GCK基因变异进行检测.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%,A等位基因频率在2型糖尿病患者组中和健康对照组中分别为21.0%和17.7%,基因型频率以及等位基因频率在2型糖尿病患者与健康对照者两组之间无显著性差异.结论在中国云南昆明地区的汉族人中存在胰岛β细胞GCK基因启动子-30位G/A变异的多态性,此G/A变异虽然可能对胰岛β细胞功能降低起促进作用,但在无其它相关基因变异以及糖尿病易感因素的存在下,对2型糖尿病的发生不起主要作用,也可以说此多态性与2型糖尿病不存在关联.

Glucokinase Gene Promoter 30 G/A Variant Associated with Type Ⅱ Diabetic Mellitus

Objective To investigate the association between the G/A variant at position-30 of the glucokinase gene promoter in Yunnan Chinese subjects and type 2 diabetes.Methods Three hundred and eighty-nine unrelated Yunnan Chinese subjects(279 subjects with type 2 diatetes and 110 normal contrast subjects) were studied by Polymerase chain reaction-restriction fragment length polymorphism assay.Result Allele frequency of the A variant was 21.0% in type 2 diabetes subjects and 17.7% in normal contrast subjects.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 contrast subjects.There was no significant difference in two groups.Conclusion GCK gene promoter-30 G/A variant exists and is not associated with type II diabetes in Yunnan Chinese.