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

Journal of medical genetics ·Vol. 23 ·No. 3 ·1986-06-00 ·Pages 204-9

Rumsby G, Carroll MC, Porter RR, Grant DB, Hjelm M

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.

MeSH Terms

Adrenal Hyperplasia, Congenital/genetics Chromosome Deletion Chromosomes, Human, 6-12 and X Complement C4/deficiency,genetics DNA/genetics Heterozygote Homozygote Humans Infant, Newborn Phenotype Polymorphism, Genetic Recombination, Genetic Steroid 21-Hydroxylase/genetics Steroid Hydroxylases/deficiency

Chemicals

Complement C4 DNA Steroid Hydroxylases Steroid 21-Hydroxylase

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Rumsby G

Carroll M C

Porter R R

Grant D B

Hjelm M

References (15)

15 references, click to expand

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Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.23.3.204

Published

1986-06-00

Pages

204-9

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1049628

Subset

External Links

PubMed source DOI: 10.1136/jmg.23.3.204 PMC Full Text View journal details

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

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