A Study on Exon 17 and 20 of the Insulin Receptor Gene Variations in Patients with Acanthosis Ni-gricans and Their Close Relatives

摘要

Objective: To explore the relationship between the insulin resistance and the defects or mutations or mutations in insulin receptor (InsR)gene. Methods: Using the single-strand conformation polymorphism(SSCP), mutations and polymorphisms were detected in nine patients with acan-thosis 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 pat-terns 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 located within 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.