醛糖还原酶基因5′端两种基因多态性与2型糖尿病肾病的相关性  

The Relationship between the Two Polymorphisms at the 5′-end of the Aldose Reductase Gene and Diabetic Nephropathy

作　　者：汪玮琳[1] 于德民[1] 刘德敏[1] 

机构地区：[1]天津医科大学代谢病医院,300070

出　　处：《天津医药》2006年第8期513-515,共3页Tianjin Medical Journal

基　　金：天津市自然科学基金资助项目(项目编号:023611211)

摘　　要：目的:研究AR基因5′-端(AC)n多态标记及启动子区C(-106)T多态标记与2型糖尿病肾病易感性之间的关系。方法:研究对象为421例中国北方汉族人,包括320例2型糖尿病(DM)患者,其中162例合并糖尿病肾病(DN),另101例为非糖尿病对照组(CON)。用PCR-变性聚丙烯酰胺凝胶-银染的方法检测AR基因5′-端(AC)n串联重复序列多态标记,同时设计引物,PCR扩增含AR基因调控区多态标记的C(-106)T的目的片断,以限制性内切酶XspI行酶切RFLP分析。比较各组间等位基因频率和基因型频率。结果:在2型糖尿病和对照组中共发现AR基因(AC)n序列的10种等位基因,28种基因型(Z-10￣Z+8),C(-106)T多态标记的CC、CT和TT3种基因型及C、T两种等位基因;上述各种等位基因和基因型频率在DM组和CON组之间无显著性差异;2型糖尿病合并肾病者Z-2等位基因、含Z-2等位基因的基因型、T等位基因及CT+TT基因型频率明显高于无肾病患者。结论:AR基因5′端(AC)n多态标记Z-2等位基因及C(-106)T多态标记T等位基因与2型糖尿病肾病易感性密切相关。Objective： To investigate the relationship between the polymorphisms of （A-C）n dinucleotide tandem repeat at 5＇ end of Aldose Reductase （AR） gene, the T polymorphisms at C （-106 ）promoter region and the susceptibility of nephropathy in patients with type 2 diabetes. Methods： A case-control study encompassing 421 Chinese subjects （including 320 with type 2 diabetes mellitus, 162 with nephropathy and 101 with non-diabetes controls） was performed. The number of （AC）n dinucleotide of AR gene was determined by PCR-denaturing polyacrylamide gel electrophoresis-silver stain. The polymorphism of C（-106）T at 5＇-regulatory region of AR gene was screened by PCR-RFLP technique. The frequencies in alleles and genotypes were compared among groups. Results： Ten alleles, twenty-eight genotypes （Z-10～Z＋8）, three genotypes （CC,CT,TF） and two alleles （C,T）of C （-106）T polymorphisms were discovered in both type 2 diabetes mellitus and controls. There were no differences between two groups on the frequency of alleles and genotypes. In type 2 diabetes mellitus with nephropathy, a increased frequency of Z-2 allele, Z-2 carrings, CT＋TT genotypes, T allele was found by comparing with those in type 2 diabetes mellitus without retinopathy. Conclusion： Both the Z-2 allele of （AC）n polymorphism and the T allele of C（-106）T polymorphism at 5＇- regulatory region of AR gene contributed to the development of diabetic nephropathy in type 2 diabetes mellitus.

关 键 词：糖尿病 2型 醛还原酶 糖尿病肾病 多态现象 遗传 

分 类 号：R587.2[医药卫生—内分泌] R541.4[医药卫生—内科学]