Article
Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase.
Endocrine research - 1 Jan 2000
Schulze E, Scharer G, Rogatzki A, Priebe L, Lewicka S, Bettendorf M, Hoepffner W, Heinrich U E, Schwabe U
Abstract excerpt
We studied 95 patients and their relatives with the classical salt wasting (SW) and simple virilizing (SV) form of CAH. SSCP/heteroduplex analysis allowed fast and efficient screening for the most common 21-hydroxylase mutations (e.g. deletions, splice site mutation in intron 2 (bp 656), Ile172Asn mutation in exon 4) and determination of the relative intensities of CYP21A and CYP21B genes. The splice site...
Topics
- Adrenal Hyperplasia, Congenital
- Base Sequence
- Family Health
- Genetic Variation
- Genotype
- Humans
- Introns
- Molecular Sequence Data
- Phenotype
- Point Mutation
- Steroid 21-Hydroxylase