Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia. Issue 3 (June 1986)

• Record Type: Journal Article
• Authors: Rumsby, G; Carroll, M C; Porter, R R; Grant, D B; Hjelm, M
• Is Part Of: Journal of medical genetics. Volume 23:Issue 3(1986)
• Page Start: 204
• Page End: 209
• Publication Date: 1986-06
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.23.3.204
• Languages: English
• ISSNs: 1468-6244

Abstract

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.