Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency. Issue 9 (September 1988)

• Record Type: Journal Article
• Authors: Rumsby, G; Fielder, A H; Hague, W M; Honour, J W
• Is Part Of: Journal of medical genetics. Volume 25:Issue 9(1988)
• Page Start: 596
• Page End: 599
• Publication Date: 1988-09
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.25.9.596
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : DNA was analysed from 33 patients with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. In each case Southern blots were prepared from a number of restriction enzyme digests and hybridised with probes for both the 21-hydroxylase and the adjacent fourth component of complement (C4). Evidence for deletion of the active 21-hydroxylase gene (CYP21B) was found in 13 cases and in 10 of these the deletion included the adjacent C4B gene, leading to a hybrid CYP21A/CYP21B gene. Deletion of CYP21B alone was found in one patient, the remaining two cases appearing to have the active gene replaced by the inactive pseudogene. Duplications of the CYP21A-C4B region and deletion of the pseudogene are also described. In a further 12 cases no gross abnormality could be found.