【作者】 张勤；

【导师】 赵学信；

【作者基本信息】 新疆医科大学 ， 生物化学与分子生物学， 2003， 硕士

【摘要】 目的 探讨胰岛素受体底物1(IRS-1)基因Gly971Arg突变，葡萄糖转运子4(GLUT-4)基因4α侧翼基因突变与新疆地区2型糖尿病的相关性，为2型糖尿病的遗传异质性与其临床表现型的特点提供理论依据。方法 采用PCR-RFLP、PCR-SSCP技术，以30例无血缘关系的正常个体为对照，对60例按WHO糖尿病诊断标准确诊的2型糖尿病患者与上述两种基因突变的相关性进行了研究。结果 60例2型糖尿病患者中检出2例IRS-1基因Gly971Arg异常带型，正常人中未检出，四格表确切概率法检验表明病例组与正常组IRS-1基因Gly971Arg的突变率无显著差异；在60例2型糖尿病患者及正常人中均未发现GLUT-4基因4α侧翼突变。结论 新疆地区2型糖尿病人IRS-1基因Gly972Arg突变的发生率与正常组比较无显著差异。GLUT-4基因4α侧翼突变的发生率为在病例组与正常组无显著差异。更多还原

【Abstract】 Objective: To explore the association between the Gly971Arg variant of the insulin receptor substrate 1 gene and the 4 a flank of the glucose transporter gene 4 with type 2 diabetes mullitus in Xinjiang. Methods: DNA were extracted from blood samples from 90 subjects,including 60 patients with type 2 diabetes mellitus and 30 unrelated normal subjects in Xinjing. All of them were Han Chinese.Detection in code 971 of the IRS-1 gene was performed by PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) and PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism)was used, to detect the mutation of the 4 a flank of the GLUT-4 gene. 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.No mutation in 4 a flank of the GLUT-4 gene was detected in patients and in controls. Conclusion: The frequency of Gly971Arg variant of the IRS-1 gene show no significant difference in both groups and 4 a flank of the GLUT-4 may not associate with type 2 diabetes mellitus in Xinjiang area.更多还原