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. 1986 Oct;39(4):461–469.

Frequent deletion and duplication of the steroid 21-hydroxylase genes.

J W Werkmeister, M I New, B Dupont, P C White
PMCID: PMC1683994  PMID: 3490178

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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