摘要
目的 探讨醛糖还原酶(AR)基因多态标记(AC)n 与中国人2 型糖尿病微血管并发症之间的关系。方法 用32P引物末端标记法,经聚合酶链反应变性聚丙烯酰胺凝胶电泳,检测362 例中国人(217 人为2 型糖尿病,其中156 人合并肾病或视网膜病变,145 人为非糖尿病对照)AR 基因的二核苷酸(AC)n 串联重复序列多态标记,比较各组间的等位基因频率和基因型频率。结果 (1)在非糖尿病对照者和2 型糖尿病患者中,见到七种AR 基因的等位基因,其中以(AC)24(138bp) 等位基因(Z)最常见。(2)同时合并肾病和视网膜病变的2 型糖尿病组与无并发症的2 型糖尿病组相比,Z+ 6等位基因频率显著减少(Fisher 确切, P=0 .038), 含Z+ 6 等位基因的基因型频率也显著减少(P=0.004)。(3) 无并发症的2 型糖尿病组与对照组比较其Z+ 6 等位基因频率显著增加( P= 0.044) 。(4)2 型糖尿病合并肾病伴肾功能不全者与不伴有肾病的2 型糖尿病者相比,Z- 2 等位基因频率显著增加( P= 0 .039),同时含Z- 2 等位基因的基因型频率也呈增加趋势。结论 AR 的Z- 2 等位基因是促进中国人2
Objective To investigate the association between dinucleotide repeat polymorphism at 5' end of aldose reductase (AR) gene and diabetic microangiopathy in Chinese. Methods A case control study for 362 Chinese subjects (including 217 type 2 diabetes mellitus with or without nephropathy or retinopathy and 145 non diabetes control) was performed. The number of (AC) n dinucleotide of AR gene was determined by PCR denaturing polyacrylamide gel electrophoresis. Results Tandem (AC) repeats of the AR gene were highly polymorphic and 7 alleles were observed in type 2 diabetes mellitus and control. The most prevalent allele was 24 times in (AC) repeat and was designated as Z allele. In type 2 diabetes mellitus with both nephropathy and retinopathy, a decreased frequency of Z+6 allele was found in comparison with type 2 diabetes mellitus without microangiopathy (Fisher's exact, P=0.038). In addition, an elevated frequency of Z-2 allele was observed in type 2 diabetes mellitus with severe nephropathy (renal insufficiency) as compared with type 2 diabetes mellitus without nephropathy (Fisher's exact, P=0.039). Conclusion AR gene alleles are associated with the development of diabetic microangiopathy. The Z-2 allele of the AR gene may be a risk factor for developing severe nephropathy in type 2 diabetes mellitus.Whereas,the Z+6 allele may protect against the development and progression of diabetic nephropathy and retinopathy in Chinese subjects.
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
1999年第5期263-266,共4页
Chinese Journal of Endocrinology and Metabolism
基金
国家教委留学回国人员科研启动基金
上海市重点学科基金
关键词
糖尿病
Ⅱ型
醛糖还原酶
肾病
视网膜病变
Diabetes mellitus, type 2 Aldose reductase Gene Nephropathy Retinopathy