Article
Characterization of frequent polymorphisms in intron 2 of CYP21: application to analysis of segregation of CYP21 alleles.
Clinical chemistry - 1 Dec 1998
Killeen A A, Jiddou R R, Sane K S
Abstract excerpt
The gene encoding adrenal steroid 21-hydroxylase, CYP21, is located in the MHC class III region. Most cases of congenital adrenal hyperplasia (CAH) are caused by mutations in this gene, and most mutations appear to arise from gene conversion-like events involving the transfer of deleterious seque...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Base Sequence
- Female
- Genotype
- Humans
- Introns
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Steroid 21-Hydroxylase