Article
Rapid screening method for detecting mutations in the 21-hydroxylase gene.
Clinical chemistry - 1 Apr 1997
Oriola J, Plensa I, Machuca I, Pavía C, Rivera-Fillat F
Abstract excerpt
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:...
Topics
- Adrenal Hyperplasia, Congenital
- Base Sequence
- Blotting, Southern
- DNA Mutational Analysis
- Electrophoresis, Agar Gel
- Electrophoresis, Polyacrylamide Gel
- Gene Deletion
- Genotype
- Humans
- Polymerase Chain Reaction
- Steroid 21-Hydroxylase