Article
[Molecular analysis of the most frequent mutations associated with congenital adrenal hyperplasia secondary to 21-hydroxylase enzyme deficiency].
Medicina - 1 Jan 2001
Dardis A, Marino R, Bergadá I, Escobar M E, Gryngarten M, Rivarola M A, Belgorosky A
Abstract excerpt
Most cases (90%) of congenital adrenal hyperplasia (CAH) are secondary to steroid 21-hydroxylase enzyme deficiency (P450c21). In human, the P450c21 gene (CYP21B) is present along with a non functional pseudogene (CYP21A). These genes, located in chromosome 6, present a sequence homology of 98%. This high homology and the complexity of this gene locus brings about considerable difficulties in its molecular...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Blotting, Southern
- Female
- Humans
- Male
- Mutation
- Polymerase Chain Reaction
- Steroid 21-Hydroxylase