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目的:研究胰岛素受体底物1(IRS - 1)基因变异在中国北方汉族2型糖尿病人发病中的作用。方法:应用聚合酶链反应-序列特异性引物(PCR -SSP)技术对80例无血缘关系的辽宁地区糖尿病病人和80例正常人IRS - 1基因的80 4、971密码子的核苷酸多态性进行检测。结果:2型糖尿病人的IRS - 1基因第80 4密码子GCG基因型频率明显高于正常人(分别为0 . 2 0 0和0 .0 6 2 ,P <0 .0 1)。第971位密码子AGG基因型在2型糖尿病病人和正常人分别为2例和1例。在2型糖尿病中,第80 4密码子GCG基因型和第971位密码子AGG基因型的患者胰岛素敏感指数明显下降,但携带不同基因型的患者间体重指数无明显差异。结论:2型糖尿病的IRS - 1基因变异与胰岛素抵抗密切相关;胰岛素抵抗可能是2型糖尿病发病的重要原因,而IRS - 1基因变异是其重要的遗传背景之一。
AIM: To investigate the role of insulin receptor substrate 1 (IRS - 1) gene mutation in the pathogenesis of type 2 diabetes in Han population of northern China. Methods: Polymerase chain reaction - sequence specific primers (PCR - SSP) were used to detect 80 4,971 codons of nucleotide polymorphism in 80 unrelated patients with diabetes and 80 normal controls in Liaoning Province. State of the test. Results: The genotype frequency of 804 codon GCG of IRS - 1 gene in type 2 diabetes mellitus patients was significantly higher than that in normal subjects (0 2.0 and 0. 0 6 2 respectively, P <0.01). The 971 codon AGG genotype was found in 2 and 1 diabetic patients and 2 normal controls, respectively. In type 2 diabetes, insulin sensitivity index was significantly decreased in patients with GCG genotype 804 and AGG 971, but there was no significant difference in body mass index among patients with different genotypes. CONCLUSION: IRS - 1 gene mutation in type 2 diabetes mellitus is closely related to insulin resistance. Insulin resistance may be an important cause of type 2 diabetes mellitus. The variation of IRS - 1 gene is one of the important genetic backgrounds.