Caveolin-3基因多态性的筛查及其在中国汉族糖尿病患者中的特点

Screening for Caveolin-3 gene polymorphism in Chinese Han diabetic patients

目的:观察我国汉族正常人和2型糖尿病(T2DM)患者Caveolin-3(CAV3)基因的多态性差异,并介绍一种研究CAV3相关遗传病的实用方法。方法:CAV3基因只有2个很短的外显子,使用PCR-SSCP进行筛查,然后选择性测序。针对性地设计引物,经过PCR-SSCP分别测定50例正常人和50例T2DM样本的基因外显子基因多态性情况。结果:PCR-SSCP发现T2DM患者CAV3基因电泳变异累计发生率为48%,而正常人变异累计发生率为7%,存在显著差异(P<0.001)。抽查变异条带,测序证实发生了碱基变异。结论:中国人T2DM的CAV3基因存在增加的多态性特征,PCR-SSCP法可有效地进行初步筛查;提示CAV3基因多态性可能是中国人T2DM发生的遗传背景之一。

Objective To observe the difference of caveolin-3 （CAV3） gene polymorphism between normal people and diabetic patients in Chinese Han population. Methods Exon gene polymorphism in 50 normal people and 50 T2DM patients were detected by PCR-SSCP. Results The cumulative incidence rate of electrophoretic variation in T2DM patients was 48%, while cumulative incidence rate of normal people was 7% （P 〈 0.001 ）. It was proved that in the variant bands, there were base variant. Conclusions The variant base number of CAV3 gene in human T2DM samples are significantly more than the normal which can be preliminary detected by PCR-SSCP. It indicates that CAV3 gene polymorphism may be one of the genetic backgrounds for the occurence of Chinese T2DM.