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Frequent deletion and duplication of the steroid 21-hydroxylase genes

Authors :
Werkmeister, J W
New, M I
Dupont, B
White, P C
Publication Year :
1986

Abstract

Congenital adrenal hyperplasia due to 21-hydroxylase (21-OHase) deficiency is an HLA-linked disorder resulting from a mutation in the 21-OHase B gene encoding the adrenal cytochrome P450 specific for steroid 21-hydroxylation. To identify polymorphisms associated with 21-OHase deficiency, DNA samples from 22 unrelated patients with this disorder were examined with a human cDNA clone encoding the enzyme. Deletions of the active 21-OHase gene were found in almost one-fourth of classical 21-OHase deficiency alleles. In contrast, mild, "nonclassical" 21-OHase deficiency is associated with a duplicated 21-OHase gene.

Details

Language :
English
Database :
OpenAIRE
Accession number :
edsair.pmid..........3e6e6120d85ff68c3c177d66c4bfc2a7