title: Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene.
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.
authors.affiliation: Department of Molecular Pathology, University College London Medical School, United Kingdom.
authors.forename: C A
authors.initials: CA
authors.lastname: Skinner
authors.forename: G
authors.initials: G
authors.lastname: Rumsby
authors.forename: J W
authors.initials: JW
authors.lastname: Honour
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics*; D005091:Exons; D005260:Female; D017353:Gene Deletion; D005796:Genes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D005810:Multigene Family; D009154:Mutation; D015345:Oligonucleotide Probes / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D015345:Oligonucleotide Probes; D019405:Cytochrome P-450 CYP11B2