CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families.

doi:10.1007/BF00219342

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Article

CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families.

Human genetics - 1 Mar 1992

Sinnott P J, Livieri C, Sampietro M, Marconi M, Harris R, Severi F, Strachan T

Abstract excerpt

A total of 33 Italian 21-hydroxylase (21-OH) deficiency families were investigated using a combination of short and long range restriction mapping of the CYP21/C4 gene cluster. The analyses revealed that large-scale length polymorphism in this gene cluster strictly conformed to a compound variable number of tandem repeats (VNTR) plus insertion system with between one and four CYP21 + C4 units and seven BssHII...

Topics

Adrenal Hyperplasia, Congenital
Alleles
Blotting, Southern
DNA
DNA Probes
Genetic Variation
HLA-A Antigens
HLA-B Antigens
HLA-C Antigens
HLA-DR Antigens
Haplotypes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Italy

Multigene Family

Mutation

Phenotype

Restriction Mapping

Steroid 21-Hydroxylase

Source

Open in PubMed

Identifiers

PMID: 1551657
DOI: 10.1007/BF00219342

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1551657-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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