title: Rapid screening method for detecting mutations in the 21-hydroxylase gene.
abstract: Impaired synthesis of adrenal steroid hormones because of steroid 21-hydroxylase deficiency is one of the most common inborn errors of metabolism. To expedite molecular diagnosis in families with 21-hydroxylase deficiency, we have designed a rapid strategy to determine nine of the most common mutations in the 21-hydroxylase gene. According to the mutation to be detected, we apply either of two simple strategies: digestion with adequate restriction enzyme or use of the amplification-created restriction site (ACRS) approach and subsequent restriction analysis. Both procedures are rapid and, being nonradioactive, are safer to perform; moreover determination of zygosity in the analyzed mutations requires only one tube per mutation.
authors.affiliation: Servei d'Hormonologia, Hospital Clínic i Provincial de Barcelona, Spain. labhor@medicina.ub.es
authors.forename: J
authors.initials: J
authors.lastname: Oriola
authors.forename: I
authors.initials: I
authors.lastname: Plensa
authors.forename: I
authors.initials: I
authors.lastname: Machuca
authors.forename: C
authors.initials: C
authors.lastname: Pavía
authors.forename: F
authors.initials: F
authors.lastname: Rivera-Fillat
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics*; D001483:Base Sequence; D015139:Blotting, Southern; D004252:DNA Mutational Analysis / Q000379:methods*; D004587:Electrophoresis, Agar Gel; D004591:Electrophoresis, Polyacrylamide Gel; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D013255:Steroid 21-Hydroxylase