2型糖尿病患者家系DGAT1基因K378N多态性研究  

DGAT1 Gene Polymorphism in Chinese Families with Type 2 Diabetes

作　　者：张宏柳[1] 叶欣[1] 侯军峰[1] 张菊[2] 焦凯[1] 

机构地区：[1]第四军医大学唐都医院内分泌科,西安710038 [2]第四军医大学全军基因诊断研究所,西安710033

出　　处：《现代生物医学进展》2008年第3期494-496,共3页Progress in Modern Biomedicine

摘　　要：目的:探讨西安地区汉族人DGAT1基因K378N多态性及其与2型糖尿病(T2DM)的相关性。方法:应用荧光偏振-模板依赖的染料掺入反应法(TDI-FP)对T2DM患者(T2DM组)76例、T2DM患者家系中非DM一级亲属(NDR组)59例的DGAT1基因K378N多态性进行检测,同时测定相关临床和生化指标,并与45名正常人(NC组)相比较。结果:DGAT1 K378等位基因频率在T2DM组和NDR组依次为87.5%和83.9%,而NC组为54.4%,差异均具有统计学意义(P<0.05)。T2DM组、NDR组和NC组不同基因型DGAT1受检者血浆甘油三酯(TG)水平差异无显著性(P>0.05)。结论:DGAT1基因K378N多态性与西安地区人群T2DM的发病相关,该多态性与患者血浆TG水平无明显相关。Objective： To detect DGAT 1 gene polymorphisms in position of K378N and investigate their relationship with type 2 diabetes in Han population in Xi＇an City, Methods： The genotypes were detected by TDI-FP assay in 76 patients with type 2 diabetic, 59 non-diabetic first degree relatives of the 76 patients, and 45 normal controls, The body mass index （BMI）, blood pressure （BP）, and lipid profile were also determined, Results： The allele frequency of DGAT1 in position of K378 was 87,5 % in the type 2 diabetes patients group （T2DM group）, 83,9% in the non-diabetic first degree relatives group （NDR group ）, and both of these were significantly higher than 54.4% in the normal control group （NC group） （P〈0.05）, However, there was no significant difference in the serum triglyceride （TG） levels among the different genotypes of the three groups （P〉0.05）, Conclusions： DGAT1 K378N may be a susceptible site of T2DM in Han population in Xi＇an, and the serum TG levels may have no relationship with DGAT1 K378N polymorphisms.

关 键 词：2型糖尿病 单核苷酸多态性 二酰基甘油酰基转移酶 TDI—FP技术 

分 类 号：R587.1[医药卫生—内分泌]