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Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.

Authors
Type
Published Article
Journal
Journal of medical genetics
Publication Date
Volume
23
Issue
3
Pages
204–209
Identifiers
PMID: 3487654
Source
Medline
License
Unknown

Abstract

DNA was analysed from 20 patients with congenital adrenal hyperplasia due to cytochrome P-450 steroid 21-hydroxylase deficiency. Using probes recognising sequences in both the 21-hydroxylase gene and the adjacent fourth component of complement (C4), one patient was found to have a homozygous deletion of DNA which encompassed the C4B and 21-hydroxylase B genes. Evidence is presented for this deletion arising by recombination between homologous regions of 21-hydroxylase A and B. Seven patients appeared to be heterozygous for the same deletion, but no detectable alteration in the 21-hydroxylase gene could be demonstrated in others.

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