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目的 探讨钾离子内向整流通道 (Kir6 2 )基因上E2 3K和I337V两个位点的多态性与 2型糖尿病、血浆空腹胰岛素、胰岛B细胞功能指数以及胰岛素敏感性指数的关系。方法 采用PCR 限制性片段长度多态性 (RFLP)的方法 ,对 2 75例 2型糖尿病 (2DM )患者 ,4 0名糖耐量异常 (IGT)和 10 6名糖耐量正常对照者的Kir6 2两位点E2 3K和I337V进行基因型分析 ,了解本地区汉族人群有无这两个位点的多态性 ,比较各组基因型频率和等位基因频率有无异同 ,并在 10 6例正常人中比较不同基因型之间 ,空腹血浆胰岛素、胰岛B细胞功能指数以及胰岛素敏感性指数有无不同。结果 发现Kir6 2基因E2 3K和I337V两位点的多态 ;2DM组、IGT组和正常组之间Kir6 2位点E2 3K基因型频率和等位基因频率无差别 (组间比较、两两比较P值均 >0 0 5) ,而 2DM组Kir6 2位点I337V带V的基因型频率稍高于正常对照组 (0 75/0 6 3) ,但统计学结果无显著性差异 (P =0 0 52 ) ;不同基因型之间 ,空腹血浆胰岛素、胰岛B细胞功能指数以及胰岛素敏感性指数也没有差异 (组间比较、两两比较P值均 >0 0 5)。结论 安徽地区汉族人群Kir6 2基因存在E2 3K和I337V两位点的多态性 ,而且该人群中E2 3K位点等位基因K频率高于文献报道Caucasian人群 ;在本组人群中
Objective To explore the relationship between the polymorphism of E2 3K and I337V in Kir6 2 gene and the type 2 diabetes mellitus, plasma fasting insulin, islet B cell function index and insulin sensitivity index. Methods Two hundred and seventy-two patients with type 2 diabetes mellitus (2DM), 60 patients with impaired glucose tolerance (IGT) and 106 normal controls with Kir6 2 The genotypes of E2 3K and I337V were genotyped to find out whether there were polymorphisms in these two loci in Han population in this region. The genotype frequency and allele frequency of each group were compared with each other. In comparing different genotypes, fasting plasma insulin, pancreatic B cell function index and insulin sensitivity index is different. The results showed that polymorphisms of Kir3 2 and I337V were found in Kir6 2 gene. There was no difference in the frequencies of alleles and genotypes of E2 3K at Kir6 2 between 2DM group, IGT group and normal group (comparison between two groups P> 0.05). However, the genotype frequencies of V337V in Kir6 2 in 2DM group were slightly higher than those in normal control group (0 75/0 6 3), but there was no statistical difference (P = 0 There was no difference in fasting plasma insulin, islet B cell function index and insulin sensitivity index between different genotypes (P> 0.05 for each comparison). Conclusion There is a polymorphism of E2 3K and I337V in Kir6 2 gene of Han nationality in Anhui province, and the frequency of allele K at E2 3K locus in this population is higher than that reported in Caucasian population. In this population