Article
Genetic linkage mapping of HSD3B1 and HSD3B2 encoding human types I and II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase close to D1S514 and the centromeric D1Z5 locus.
Cytogenetics and cell genetics - 1 Jan 1995
Morissette J, Rhéaume E, Leblanc J F, Luu-The V, Labrie F, Simard J
Abstract excerpt
The enzyme 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase (3 beta-HSD) catalyses an essential step in the biosynthesis of all steroid hormones. Consequently, classical 3 beta-HSD deficiency is responsible for a severe form of congenital adrenal hyperplasia. The HSD3B1 and HSD3B2 genes encoding the types I and II 3 beta-HSD isoenzymes, respectively, have been previously assigned by in situ...
Topics
- Animals
- Chromosome Mapping
- Chromosomes, Human, Pair 1
- Deoxyribonucleases, Type II Site-Specific
- Genetic Linkage
- Genetic Markers
- Genotype
- Hominidae
- Humans
- Lod Score