A Study on Exon 17 and 20 of the Insulin Receptor Gene Variations in Patients with Acanthosis Nigricans and Their Close Relatives
Abstract：Objective: To explore the relationship between the insulin resistance and the defects or mutatwns or mutatwns in insulin receptor ( InsR)gene. Methods: Using the single-strand conformation polymorphism( SSCP ), mutations and polymorphisms were detected in nine patients with acanthosis nigricans (AN) and their first degree relatives in exon 17 and 20 of InsR gene. The polymorphisms and mutations were confirmed by DNA direct sequencing. Results: Fourteen variant SSCP patterns were detected. Direct sequencing revealed seven point mutations and six silent polymorphisms. Five of the mutations appeared not to be mentioned in the previous literature. These mutations were all locatedwithin the domain of tyrokinase in InsR. Conclusion: It seem to us that almost all the AN patients with severe insulin resistance in this study have mutations in InsR tyrokinase domain.
Keywords：insulin receptorgeneticscanthosis nigricans
Publication Date：2003-07-02
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：10( 149-158 )