NIDDM新候选基因KCNA7的cSNP在东北人群中的分布及意义

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418M（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CNA7 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。

Distribution and Significance of cSNP in KCNA7 Gene as a Novel NIDDM Candidate Gene in the Population of Northeast China

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.