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目的探讨β_3-肾上腺素能受体(β_3-AR)基困Trp64Arg错义突变频率与2型糖尿病患者蛋白尿之间的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术测定了2型糖尿病无蛋白尿的患者50例、微量蛋白尿患者43例、大量蛋白尿患者39例以及正常对照组42名的β_3-AR基因Trp64Arg突变基因型。结果正常对照组Arg64等位基因频率为0.17;突变频率在糖尿病与对照组之间相比差异无显著意义(P>0.05);糖尿病蛋白尿组Arg64等位基因频率为0.18,明显高于无蛋白尿组(P<0.05％),而糖尿病微量蛋白尿组与大量蛋白尿组之间差异无显著意义(P>0.05)。结论β_3-AR基因Trp64Arg突变可能不是中国汉族人2型糖尿病发病的遗传学基础;Arg64等位基因可能是糖尿病肾病的一个风险基因。
Objective To investigate the relationship between the frequency of Trp64Arg missense mutation in β_3-adrenergic receptor (β_3-AR) and proteinuria in type 2 diabetic patients. Methods 50 cases of type 2 diabetes mellitus without proteinuria, 43 cases of microalbuminuria, 39 cases of massive proteinuria and normal control group were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) 42 of the β_3-AR gene Trp64Arg mutant genotypes. Results The allele frequency of Arg64 was 0.17 in normal control group. There was no significant difference in the frequency of mutation between diabetes and control group (P> 0.05). The frequency of Arg64 allele in diabetic proteinuria was 0.18, which was significantly higher than that of no protein (P <0.05%). There was no significant difference between diabetic microalbuminuria group and macroalbuminuria group (P> 0.05). Conclusion The mutation of Trp64Arg of β_3-AR gene may not be the genetic basis of type 2 diabetes in Han Chinese. Arg64 allele may be a risk gene of diabetic nephropathy.