论文部分内容阅读
目的:研究胰岛素受体结合域基因突变与胰岛素受体(INSR)功能异常的关系。方法:采用聚合酶链反应-单链构象多态性(PCR-SSCP)分析法和核酸银染法,对70例2型糖尿病患者INSR结合域基因第2,3,6三个外显子(exon)及部分相邻内含子进行基因突变检测。结果:在对外显子6的检测中发现有9例突变,突变又可分为B,C两种不同的SSCP带型。其中B型7例,C型2例,C型突变经测序结果,与外显子6的3′端毗邻的内含子的第43位A→C突变。在外显子3中发现了2例突变,为同一带型。在外显子2中尚未发现突变带型。结论:INSR结合域基因的突变在2型糖尿病中出现的频率较低。C型突变对INSR结合域的影响及其在2型糖尿病发病中的作用尚待进一步研究。
Objective: To investigate the relationship between insulin receptor binding domain gene mutation and insulin receptor (INSR) dysfunction. Methods: Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and silver staining were used to detect the polymorphisms in the exon 2, 3, and exon 3 of 70 cases of type 2 diabetes mellitus exon) and some adjacent intron for gene mutation detection. RESULTS: Nine mutations were found in the detection of exon 6, and the mutations were classified into B and C SSCP bands. There were 7 cases of type B and 2 cases of type C. The C-type mutation was sequenced and the 43rd A → C mutation of the intron adjacent to the 3 ’end of exon 6 was sequenced. Two mutations were found in exon 3, of the same band type. No mutation in exon 2 has been found. CONCLUSIONS: Mutations in the INSR-binding domain occur less frequently in type 2 diabetes. The effect of C mutation on INSR binding domain and its role in the pathogenesis of type 2 diabetes awaits further study.