一个糖尿病家系中肾虚证相关功能类基因的筛选及验证

Identify and validate functional genes of kidney deficiency syndrome in a type 2 diabetes mellitus pedigree

目的:筛选糖尿病家系中与肾虚证相关的特征功能类基因。方法:对一个2型糖尿病(T2DM)家系的6个成员进行辨证和理化检测,选择不同代的糖尿病肾虚证3例及家系中的正常人1例作基因芯片实验;采用芯片显著性分析(SAM)软件筛选显著表达基因。另外,再选取T2DM肾虚证患者及健康者各9例分别为实验组和对照组,采用实时定量PCR(qPCR)技术对筛选到的特征基因在T2DM中的表达进行验证。结果:共筛选到70个显著表达基因,功能注释结果提示免疫反应功能类基因及细胞因子通路显著表达。qPCR法验证了AZU1、CCR3、IL20RA 3个基因。其中,CCR3和IL20RA在T2DM肾虚证患者中的表达低于对照组(P<0.05)。结论:免疫功能异常可能是该家系发生糖尿病肾虚证的分子基础。

Objective： To screen significant expressed genes of kidney deficiency syndrome in a T2DM pedigree.Methods： Six members of T2DM pedigree were chose to make routine physical chemical tests,and 3 typical T2DM patients with kidney deficiency and 1 healthy member in the pedigree were selected to as subjects for cDNA microarray test.The significantly expressed genes were screened through Significance Analysis of Microarray（SAM） for further functionally annotated.9 T2DM patients and 9 healthy peoples were selected as experimental group and control group respectively.The expression of screened significant genes was compared between two groups through qPCR test.Results： 70 significantly expressed genes were screened.GO and PATHWAY annotation results of these genes showed that immune-related genes and Cytokine-cytokine receptor interaction pathways significantly expressed.AZU1,CCR3 and IL20RA were validated in T2DM patients through qPCR tests.The expressed level of CCR3 and IL20RA was significantly low expressed in experimental group compared to that of the control group（P0.05）.Conclusion： Immune functional disorders are maybe the key pathogenesis of this T2DM pedigree with kidney deficiency syndrome.