Article
Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
Journal of human genetics - 1 Jan 2002
Lee Hsien-Hsiung, Niu Dau-Ming, Lin Ruey-Wen, Chan Peter, Lin Ching-Yu
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. More than 90% of CAH cases are caused by mutations of the CYP21 gene. Approximately 75% of the defective CYP21 genes are generated through intergenic recombination, termed "apparent gene conversion," from the neighboring CYP21Ppseudogene. A chimeric CYP21P/CYP21gene...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Chimera
- Crossing Over, Genetic
- DNA Mutational Analysis
- Gene Conversion
- Humans
- Minisatellite Repeats
- Mutation
- Polymorphism, Restriction Fragment Length
- Pseudogenes