2型糖尿病家系人群两种基因多态性分布

目的检测中国常州汉族2型糖尿病家系人群中PEA 15基因与KCNJ 10基因中2个单核苷酸位点多态性分布情况,探讨该遗传标记与2型糖尿病的关系。方法采用聚合酶链反应-限制性酶切片段长度多态性（PCR-RFLP）方法对该地区55个2型糖尿病高发家系265名成员的PEA 15基因（rs8175359）及KCNJ 10基因（rs2486253）2个单核苷酸多态性位点（SNPs）进行分析。结果在2型糖尿家系人群中,rs8175359位点基因型频率为：病例组中GG、GA分别为98.6%,1.4%;在未患病亲属组中为GG 99.2%,GA 0.8%,未发现AA纯合子。rs2486253位点基因型频率为：病例组中GG、GT分别为92.9%,7.1%;在未患病亲属组中为GG 91.1%,GT 8.9%。2组间基因型频率、等位基因频率的差异均无统计学意义。按性别等因素分层分析显示,rs2486253位点基因型频率构成比差异均无统计学意义。结论该两位点是否可作为2型糖尿的相关遗传标记需进一步在大样本人群研究中重复验证。

Distribution of two single nucleotide polymorphisms in type 2 diabetes mellitus pedigrees

Objective To identify the single nucleotide polymorphisms(SNPs) of two locus at PEA 15(phosphoprotein enriched in astrocytes 15) gene and KCNJ 10(potassium inwardly-rectifying channel,subfamily J,member 10) gene in type 2 diabetes mellitus(T2DM)pedigrees of Han population in Changzhou of China,and to explore the association between the two genetic markers and T2DM.Methods The polymorphisms of PEA 15 gene(rs8175359) and KCNJ 10 gene(rs2486253) were performed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) in 265 members from 55 pedigrees of T2DM.Results In T2DM pedigrees group,the genotype frequencies of rs8175359 were GG 98.6% and GA 1.4% in the case group,GG 99.2% and GA 0.8% in the control group.The genotype frequencies of rs2486253 were GG 92.9% and GT 7.1% in the case group,GG 91.1% and GT 8.9% in the control group.There were no significant differences in distribution of two SNPs between the two groups.In stratified analysis,no significant differences were observed in the genotype frequencies of rs2486253.Conclusion It should be verified repeatedly in larger samples to determine whether the two SNPs of PEA 15 gene and KCNJ 10 gene could be candidate genes of T2DM.