NIDDM患者胰岛素受体底物-1基因突变研究

Study of mutation of insulin receptor substrate 1 gene with type 2 diabetes mellitus in Xinjiang

目的 :探讨胰岛素受体底物 - 1(IRS- 1)基因 Gly971Arg突变与非胰岛素依赖性糖尿病 (NIDDM)的相关性。 方法 :采用多聚酶链式反应 -限制性片段长度多态性 (PCR- RFL P)分析方法 ,对 6 0例 NIDDM患者和 30例正常个体 IRS- 1基因 Gly971Arg突变进行筛查。结果:6 0例 NIDDM患者中检测出 2例 Gly971Arg突变者 ,30例正常人中没有发现突变者。结论:IRS- 1基因 Gly971Arg突变在 NIDDM患者中出现频率较正常人略高 ,Gly971Arg突变对 IRS- 1活性的影响及其在 NIDDM发病中的作用有待进一步研究。

Objective: To explore the association between the Gly971Arg variant of the insulin receptor substrate 1 gene and type 2 diabetes mullitus in Xinjiang. Methods: Detection in code 971 of the IRS 1 gene was performed by PCR RFLP (polymerase chain reaction restriction fragment length polymorphism) in 60 patients with type 2 diabetes mellitus and 30 unrelated normal subjects in Xinjing. All of them were Han Chinese. Results: The frequency of Gly971Arg variant of the IRS 1 gene in type 2 diabetes was 3.3% , which was lower than frequencies reported in white populations. While none was found in controls. Conclusion: The Gly971Arg variant of the IRS 1 gene may result in the abnormal conformation of IRS 1, and more work is needed to study on the association between the Gly971Arg variant of IRS 1 gene and the development of type 2 diabetes mellitus in Xinjiang area.