家族性多发性2型糖尿病家系初步分析

Preliminary analysis of multiple familial type 2 diabetes pedigrees

目的 了解糖尿病 (DM )患者一级亲属DM和糖耐量减退 (IGT)的患病率。方法 随机选择拟诊为家族性 2型DM家系 5 6 0个 ,由专门小组上门调查采血样 (未明确为DM者做OGTT试验 ) 2 986个 (含配偶 ) ,对其 3个或 3个以上糖尿病患者的 2 6 6个家系进行分析。结果 1、查前经询问调查糖尿病患病率 34 .2 % ,新检出 14.5 % ,总患病率 46 .5 % ;2、其中一级亲同胞患病率 49.0 % ;3、无亲缘关系的配偶患病率 15 .3% ;4、见到母系效应 ;5、2 6 6个家系内有成人 1型DM 18家 ,MODY家系 19个及线粒体基因突变 (tRNALEU(UUR) 32 43A→G)DM家系 6个。结论 1、家族性多发性 2型DM家系一级亲成员患糖尿病或糖耐量异常的机率远高于普通人群患病率 ,属糖尿病发病高危人群 ,宜早期进行长期监测和防治 ;2、表现为家族性多发性 2型DM家系具遗传异质性 ,分析 2型DM家系时应除外其他类型的糖尿病家系。

Objective To assess the prevalence of diabetes or IGT in first relatives of type 2 diabetic pedigrees which include at least 3 diabetics or IGT subjects. Methods 560 familial type 2 diabetic pedigrees were chosen in random and 2986 blood samples( including spouses) were collected by calling at the patients by special group(OGTT test were taken in the individuals who were not definite diabetics). Among them, 266 pedigrees with at least 3 diabetics were analyzed. Results ⑴ The inquired prevalence of diabetes was 34.19%, newly discovered by OGTT is 14.5% and the total was 46.5%. ⑵ The prevalence in sibs was 49%, while that in unrelated spouses was 15.3%. ⑶ Maternal effect could be seen. ⑷ In 266 pedigrees, 18 pedigrees of type 1 diabetes, 19 pedigrees of MODY and 6 of MDM (mitochondrial gene mutation diabetes: tRNALEU(UUR) 3243 A→G) were found. Conclusion ⑴ The first relatives in multiple familial type 2 diabetes pedigree are high risk population to diabetes, their probability to develop diabetes or IGT is much higher than those of general population, so long term monitoring and early prevention should be performed. ⑵ The multiple familial type 2 diabetes pedigrees are of genetically heterogeneity, so other type diabetic pedigrees should be excluded when type 2 diabetes pedigrees are analyzed.