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出 处:《贵州医药》2003年第6期497-499,共3页Guizhou Medical Journal
摘 要: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 The association between the missense mutation (Trp 64Arg) of beta 3 - adrener-gic receptor (β3AR) gene and proteinuria of type 2 diabetes mellitus (DM) was studied. Methods Polymer-ase chain reaction and the restriction fragment length polymorphism analysis were used to determine the wild, heterozygous and homozygous forms of the gene. The samples were collected from 50 patients of normalbu-minuric, 43 patients of microalbuminuric, 39 patients of macroalbuminuric with type 2 DM and 42 non - diabetic subjects. Results The allelic frequency of the mutation was 0.17 in non - diabetic subjects. The mutation frequency of the three genetic types were similar between the diabetics and non - diabetics ( P > 0.05 ). The frequency of Arg 64 allele in patients of proteinuria was 0. 18 , significantly higher than that in patients of normalbuminuric (P < 0.05 ) , but the frequency was similar between the patients of microalbuminuric and macroalbuminuric (P > 0.05). Conclusions The mutation of Trp 64 Arg in β3 - AR gene probably not contributes to the onset of type 2 diabetes in Chinese, but Arg 64 allele may be a risk gene in diabetic nephropa-thy.
关 键 词:2型糖尿病 Β3-肾上腺素能受体 基因多态性 蛋白尿
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