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. 1986 Oct;39(4):461-9.

Frequent deletion and duplication of the steroid 21-hydroxylase genes

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

Frequent deletion and duplication of the steroid 21-hydroxylase genes

J W Werkmeister et al. Am J Hum Genet. 1986 Oct.

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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References

    1. J Mol Biol. 1975 Nov 5;98(3):503-17 - PubMed
    1. Am J Hum Genet. 1985 Jul;37(4):650-67 - PubMed
    1. Lancet. 1977 Dec 24-31;2(8052-8053):1309-12 - PubMed
    1. Physiol Rev. 1979 Apr;59(2):353-406 - PubMed
    1. Proc Natl Acad Sci U S A. 1980 Nov;77(11):6754-8 - PubMed

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