Article
Allele-dropout using PCR-based diagnosis for the splicing mutation in intron-2 of the CYP21B-gene: successful amplification with a Taq/Pwo-polymerase mixture.
Endocrine research - 1 Jan 2000
Schulze E, Bettendorf M, Maser-Gluth C, Decker M, Schwabe U
Abstract excerpt
The splicing mutation in intron 2 (nucleotide 656) of the 21-hydroxylase gene (CYP21B) is the most common mutation causing congenital adrenal hyperplasia (CAH). Homozygosity for nt656G is associated with the classical phenotype of CAH. In several studies, a number of clinically asymptomatic relatives of CAH-patients were genotyped as nt656G homozygotes. We have proposed that the putative asymptomatic nt656G/G...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- DNA, Recombinant
- DNA-Directed DNA Polymerase
- Drug Combinations
- Female
- Genotype
- Heterozygote
- Homozygote
- Humans
- Introns
- Male
- Mutation
- Polymerase Chain Reaction
- Steroid 21-Hydroxylase
- Taq Polymerase