Study on Mutations in Insulin Binding Domain of Insulin Receptor Gene in Patients with Type 2 Diabetes
Abstract：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.
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Publication Date：2001-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 265-267 )