家族高发性2型糖尿病家系人群的建立与特征分析

Constitution and character analysis of multiple familial type 2 diabetes mellitus

目的 :建立一个可用于系统研究 2型糖尿病遗传和环境危险因素的高发家系人群。方法 :选择可能的家族性 2型糖尿病家系 140个 ,全部非患者采血做 OGTT确认 ,并对新老患者用免疫学方法、系谱分析和分子生物学方法排除 1型糖尿病、MODY型和线粒体遗传阳性家系。对有 2个或2个以上 2型糖尿病患者的 115个家系进行分析。结果 :先证者亲属中 2型糖尿病患病率为 3 4.2 0 % ,新检出率为 8.77%。两代以上有患者的家系数占 5 9.13 % ,先证者同胞患病率为 48.3 7%。不同性别组的患病率和新检出率无显著差异 ,在 115个家系中未观察到有统计学意义的母系效应。结论 :该家系人群家系结构全面 ,诊断明确 ,亲属为糖尿病发病高危人群 。

Objective: To constitute a crowd of multiple familial type 2 diabetes mellitus for study of genetics and environmental risk factors on T2DM. Methods: 140 familial type 2 diabetes pedigrees with two or over two T2DM patients were chosen and all people were diagnosed by OGTT. 115 pedigrees with two or over two T2DM patients were analyzed after the T1DM, MODY and mitochondrial gene mutation pedigrees were excluded. Results: The prevalence in folks was 34.20%, newly-affirmed by OGTT is 8.77% . The prevalence in sibs was 48.37%. The pedigrees that have T2DM in two generations were 59.13%. Maternal effect could not be seen. Conclusion: The relatives in multiple familial T2DM pedigree are high risk population to T2DM and they had clear frame and diagnosis. The crowd is suitable for study the etiology of T2DM.