Frequency deletion and duplication of the steroid 21-hydroxylase genes

J. W. Werkmeister, M. I. New, B. Dupont, P. C. White

Research output: Contribution to journalArticlepeer-review

108 Scopus citations


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 languageEnglish (US)
Pages (from-to)461-469
Number of pages9
JournalAmerican Journal of Human Genetics
Issue number4
StatePublished - 1986

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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