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.
Original language | English (US) |
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Pages (from-to) | 461-469 |
Number of pages | 9 |
Journal | American Journal of Human Genetics |
Volume | 39 |
Issue number | 4 |
State | Published - 1986 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)