醛糖还原酶基因多态性与2型糖尿病及视网膜病变的相关性

Correlation between polymorphism of the aldose reductase gene and retinopathy in type 2 diabetes mellitus

目的探讨2型糖尿病醛糖还原酶(AR)基因5′端(AC)n多态性与2型糖尿病(DM)并发背景型视网膜病变(BDR)的关系。方法随机选取DM患者74例,其中并发BDR39例,无视网膜病变35例,正常对照组40例。经多聚酶链反应(PCR)-琼脂糖凝胶电泳,检测AR基因5′端(AC)n多态性标记。结果①在2型糖尿病患者和正常对照组中共检测出7种等位基因,其中以Z、Z+2、Z-2三种等位基因最常见。②Z-2等位基因在BDR组高于NDR组和CON组;Z+2等位基因在BDR组低于NDR组和CON组。结论山东地区2型DM患者AR基因5′端(AC)n存在7种等位基因,Z-2等位基因可能是BDR的易感基因,Z+2等位基因可能为其保护基因。

Objective To study the relationship between polymorphism of （AC）n in the 5＇end of the AR gene and background diabetic retinopathy（BDR）. Methods 74 patients with diabetes mellitus （DM）, 39 with BDR and 35 without, and 40 controls were enrolled in this study. PCR-agarose gel electrophoresise was used to determine the polymorphism marker of （AC）n dinucleotide in the 5＇end of the AR gene. Results ① 7 alleles, mostly Z, Z ＋ 2, and Z- 2 alleles were observed in type 2 diabetes mellitus and controls. ②Frequency of allele Z- 2 was significantly higher in the BDR group than in the non-diabetic retinopathy （NDR） group and the control group, however, frequency of allele Z ＋ 2 was significantly lower in the BDR group than in the NDR group and the control group. Conclusions 7 alleles were found in the 5＇end of the AR gene in type 2 DM patients in the Shaadong area, of them, the Z - 2 allele might be the susceptible gene and the Z ＋ 2 allele might be the protective gene.