Article
Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).
Lancet (London, England) - 1 Jan 2000
Dupont B, Oberfield S E, Smithwick E M, Lee T D, Levine L S
Abstract excerpt
Congenital adrenal hyperplasia (C.A.H.) with 21-hydroxylase deficiency is an autosomal recessive disease. HLA genotyping of parents and children in six families in which more than 1 child had C.A.H. established that the gene responsible for 21-hydroxylase deficiency is closely linked to HLA. One patient had inherited a maternal HLA-A/B recombinant haplotype and studies in this family indicated that the abnormal...
Topics
- Adrenal Hyperplasia, Congenital
- Adrenocortical Hyperfunction
- Adult
- Child
- Epitopes
- Female
- Genotype
- HLA Antigens
- Haploidy
- Humans
- Male
- Mixed Function Oxygenases