CAJ | 학술논문

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。
목적：연구이도소수체결합역기인돌변여이도소수체(INSR)공능이상적관계。방법：채용취합매련반 응-단련구상다태성(PCR-SSCP)분석법화핵산은염법，대70례2형당뇨병환자INSR결합역기인제2，3，6삼개외 현자(exon)급부분상린내함자진행기인돌변검측。결과：재대외현자6적검측중발현유9례돌변，돌변우가분위 B，C량충불동적SSCP대형。기중B형7례，C형2례，C형돌변경측서결과，여외현자6적3＇단비린적내함자적제 43위A→C돌변。재외현자3중발현료2례돌변，위동일대형。재외현자2중상미발현돌변대형。결론：INSR결 합역기인적돌변재2형당뇨병중출현적빈솔교저。C형돌변대INSR결합역적영향급기재2형당뇨병발병중적작 용상대진일보연구。
Objective: To study the relationship between the mutations in insulin binding domain of insulin receptor (INSR) gene and the abnormality in the function of insulin receptor. Methods: Using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and silver-staining technique,the gene mutations of exon 2,3,6 and parts of the adjoining in- trons in insulin binding domain of INSR were detected in 70 patients with type 2 diabetes. Results:In examining exon 6,9 mutations that could be divided into 2 different SSCP types were found,among which 7 of them were type B and the other 2 were type C. The type C mutation was A→C single-base mutant at position 43 in the 3＇-intron linked to exon 6. Two same mutations were found in examining exon 3 and no mutation was found in examining exon 2. Conclusion: The frequency of mutations in insulin binding domain of INSR gene is relatively low in patients with type 2 diabetes,and more works is needed to study the effect of type C mutant to the insulin binding domain of INSR and its role in process of type 2 diabetes.