Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene

J Clin Endocrinol Metab. 1996 Jun;81(6):2389-93. doi: 10.1210/jcem.81.6.8964882.

Abstract

The adrenal 11 beta-hydroxylase is a mitochondrial P450 enzyme encoded by the CYP11B1 gene, which is situated on chromosome 8q22 in tandem with the gene for aldosterone synthase (CYP11B2). Deficiency of 11 beta-hydroxylase results in the inability to convert 11-deoxycortisol to cortisol and accounts for 5-8% of cases of congenital adrenal hyperplasia. In the following study the CYP11B1 genes from eight individuals with 11 beta-hydroxylase deficiency were screened for mutations using single strand conformation polymorphism (SSCP) analysis. Sequence analysis of variant exons revealed a 28 bp deletion and a 5 bp duplication exon 2 and five missense mutations, G267R, G267D, Q356X, R427H and C494F, distributed throughout the gene. One of these mutations, G267R, and a G to A transversion at the third nucleotide position of codon 318 occur at the +1 position of the splice donor sites. Mutations were neither the result of gene conversion nor nonhomologous recombination between the two closely related CYP11B genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Child, Preschool
  • Cytochrome P-450 CYP11B2 / genetics*
  • Exons
  • Female
  • Gene Deletion
  • Genes*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Multigene Family
  • Mutation*
  • Oligonucleotide Probes / genetics
  • Polymorphism, Single-Stranded Conformational*

Substances

  • Oligonucleotide Probes
  • Cytochrome P-450 CYP11B2

Associated data

  • GENBANK/M32863
  • GENBANK/M32878
  • GENBANK/M32879