【摘要】 为研究NIDDM新候选基因KCNA7的cSNP在东北人群中的分布及意义,本实验采用PCR-RFLP技术检测了97例NIDDM患者、141例健康对照者KCNA7基因T418M(C T)多态;并利用SSCP技术筛查了该位点附近其他未知SNP。发现KCNA7基因T418M(C T)基因型频率在正常人群中分布符合Hardy-Weinberg平衡,基因频率和基因型频率在NIDDM组和正常对照组中分布无显著性差异(P>0.05);NIDDM组和正常对照组中各基因型间临床生化指标无显著性差异;该位点附近尚未发现其他SNP。结果提示,T418M(C T)仅为KCNA7基因多态性标志,但不排除KCNA7基因其余结构变异与NIDDM存在相关性的可能。更多还原

【Abstract】 To investigate the distribution and significance of a coding single nucleotide polymorphism(cSNP)of the novel NIDDM candidate gene,KCNA7 in the population of Northeast China,97 patients with NIDDM and 141 controls were tested.Genotypes of KCNA7 gene T418M(C/T)were performed by PCR-RFLP,and SSCP was used to detect other unknown variations near the C/T site of KCNA7 gene.As a result,no significant difference was observed in the distribution of genotypes of T418M(C/T)between NIDDM and control group.Clinical biochemical examinations showed no significant difference between genotypes in both INDDM and control group,and no other SNPs were found near the C/T site of KCNA7 gene.This study demonstrates the frequency of this cSNP complies well with the Hardy-Weinberg equilibrium in normal group,T418M(C/T)is only a polymorphic maker of KCNA7 gene,and the possibility of association between NIDDM and KCNA7 can not be excluded.更多还原