Article
Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a study of 27 families.
European journal of pediatrics - 1 Nov 1992
Strumberg D, Hauffa B P, Horsthemke B, Grosse-Wilde H
Abstract excerpt
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21-OHase) deficiency is inherited as an autosomal recessive trait. Patients can present with the salt wasting, simple virilizing or a non-classical form of the disease. The gene for P450C21, the enzyme carrying 21-OHase activity, has been mapped to the major histocompatibility complex on chromosome 6p. Using molecular hybridisation techniques we have...
Topics
- Adrenal Hyperplasia, Congenital
- Blotting, Southern
- Chromosomes, Human, Pair 6
- Genotype
- HLA-B Antigens
- HLA-DR Antigens
- Haplotypes
- Humans
- Major Histocompatibility Complex
- Mutation
- Polymorphism, Restriction Fragment Length