Article
Gene conversion in steroid 21-hydroxylase genes.
American journal of human genetics - 1 Jun 1990
Urabe K, Kimura A, Harada F, Iwanaga T, Sasazuki T
Abstract excerpt
The steroid 21-hydroxylase gene, CYP21B, encodes cytochrome P450c21, which mediates 21-hydroxylation. The gene is located about 30 kb downstream from pseudogene CYP21A. The CYP21A gene is homologous to the CYP21B gene but contains some mutations, including a C----T change which leads a termination codon, TAG, in the eighth exon. We found the same change in a mutant CYP21B gene isolated from a patient with...
Topics
- Adrenal Hyperplasia, Congenital
- Base Sequence
- Blotting, Southern
- Chromosome Mapping
- Female
- Gene Conversion
- Genes
- HLA-B Antigens
- HLA-B44 Antigen
- Haplotypes
- Humans
- Japan
