上海汉族人胰高血糖素基因单核苷酸多态性与原发性高血压的相关性

Association of single nucleotide polymorphisms of glucagon gene and essential hypertension in Shanghai Chinese

目的 检测人胰高血糖素基因编码区和调控区的单核苷酸多态性 (SNP)及其基因型在上海汉族人群中的分布 ,并分析和原发性高血压 (EH)的相关性。方法 用直接测序法和变性高效液相色谱法 (DHPLC)进行SNP检测 ,用直接测序法对EH组和正常血压组 (NT)进行SNP基因分型。结果 在胰高血糖素基因的 2号外显子 (36 89位 )和 3号外显子连接区 (5 5 0 5位 )各检测到 1个SNP。对其中一个高频SNP(C36 89T)的分型结果显示 ,SNP基因型频率在EH组和NT组间差异无显著性。不同基因型组间血压、血糖、血脂和肾功能等生化指标差异均无显著性。结论 SNP在不同种族中差异有显著性 ;胰高血糖素基因的C36 89T基因型分布在NT和EH间差异无显著性。

Objective To detect and genotype the single-nucleotide polymorphisms (SNPs) in coding and promoter regions of human glucagon gene in Han Chinese residing in Shanghai and to analyse its association with essential hypertension (EH). Methods The identification of SNPs was performed by both direct DNA sequencing and denaturing high-performance liquid chromatography (DHPLC). For genotyping of SNPs direct sequencing was performed in 96 patients with EH and 96 normotensive controls (NT). Results Two SNPs in glucagon gene, one in the coding region (C3689T) and the other in the joint region, (G5505A) were found. A higher frequency SNP, C3689T, was genotyped and no significant difference in C3689T genotype frequency was found between EH and NT. Conclusion There is an important ethnic difference in SNP distribution of human glucagon gene. The distribution of C3689T genotype in Han Chinese is not different between EH and NT.