Article
Defective, deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia.
Human genetics - 1 Dec 1990
Ghanem N, Lobaccaro J M, Buresi C, Abbal M, Halaby G, Sultan C, Lefranc G
Abstract excerpt
Defects in the enzyme, steroid 21-hydroxylase, result in congenital adrenal hyperplasia (CAH), a common autosomal recessive disorder of cortisol biosynthesis. The gene encoding this protein (CYP21B) and a closely linked pseudogene (CYP21A) have been mapped in the HLA complex on chromosome 6p, adjacent to the complement genes C4B and C4A, about 80 kb from the factor B gene. Molecular analyses of patients with CAH...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Chromosomes, Human, Pair 6
- Complement Factor B
- Female
- Genetic Linkage
- HLA Antigens
- Haplotypes
- Humans
- Male
- Multigene Family