Article
Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.
Clinical chemistry - 1 Jun 2002
Krone Nils, Braun Andreas, Weinert Stefanie, Peter Michael, Roscher Adelbert A, Partsch Carl-Joachim, Sippell Wolfgang G
Abstract excerpt
BACKGROUND: Congenital adrenal hyperplasia (CAH) is a frequent autosomal recessive disease, with a wide range of clinical manifestations, most commonly attributable to mutations in the 21-hydroxylase gene (CYP21). Large gene deletions, large gene conversions, a small 8-basepair deletion, and eight point mutations in CYP21 account for approximately 95% of all enzyme deficiencies. We developed a new strategy for a...
Topics
- Adrenal Hyperplasia, Congenital
- Blotting, Southern
- DNA Mutational Analysis
- Genotype
- Humans
- Polymerase Chain Reaction
- Sequence Analysis, DNA
- Steroid 21-Hydroxylase