A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome.

doi:10.1038/ng0393-260

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Article

A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome.

Nature genetics - 1 Mar 1993

Collier S, Tassabehji M, Sinnott P, Strachan T

Abstract excerpt

More than two hundred characterized 21-hydroxylase deficiency alleles appear to result exclusively from sequence exchanges involving the 21-hydroxylase gene (CYP21B) and a closely related pseudogene (CYP21A). Gene conversion-like events have also been reported in many other human gene clusters, b...

Topics

Adrenal Hyperplasia, Congenital
Alleles
Base Sequence
Female
Gene Conversion
Genetic Markers
Genome, Human
HLA Antigens
Humans
Male
Molecular Sequence Data
Multigene Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Point Mutation

Polymerase Chain Reaction

Pseudogenes

Recombination, Genetic

Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 8485582
DOI: 10.1038/ng0393-260

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8485582-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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