Study of Mutation in Tyrosine Protein Kinase of Insulin Receptor Gene in Patients with Polycystic Ovarian Syndrome

摘要

Objective To explore the molecular mechanism of insulin resistance in the patients with polycystic ovarian syndrome (PCOS) Methods Polymerase chain reaction, silver staining-single strand conformation poly-morphism(PCR-SSCP) and DNA direct sequencing were used to detect the mutation of insulin receptor (INSR) gene in exon 17～21 with the abdominal wall adipose tissue, from 31 patients "with PCOS (PCOS Group) and 30 patients with pure hysteromyoma in reproductive lift (Control Group). Results Twenty-two variant SSCP patterns in exon 17 of INSR gene were detected. Direct sequence analysis of exon 17 showed that homozygous nonsense mutation was two alleles single nucleotide polymorphism (SNP) at the codon 1058 (CAC→CAT). Exons 18～21 were not detected with any significantly mutation. The INSR gene His ~(1058)C→T substitution collecting rate and insulin resistance were significantly higher in the PCOS group than in the control group (P = 0. 0293, P<0. 05, P<0. 01). Conclusion It is suggested that the SNP in codon 1058 of the INSR gene might be related with the insulin resistance in PCOS patients, which has hereditary tendency. And the missense mutation, nonsense mutation and frameshift mutation at exons 18～21 in tyrosine protein kinase region of INSR gene for PCOS patients were not frequently observed.