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Article

Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism.

Human heredity - 1 Jan 2000

Beckman L E, Saha N, Spitsyn V, Van Landeghem G, Beckman L

Abstract excerpt

Recent studies have shown that hereditary hemochromatosis (HH) is likely to be caused by homozygosity for a Cys282Tyr mutation in the HFE gene located 4.5 Mb telomeric to HLA-A. Population studies of this polymorphism are facilitated by the fact that the Cys282Tyr mutation creates a Rsal restrict...

Topics

Alleles
Codon
Cysteine
Deoxyribonucleases, Type II Site-Specific
Family Health
Finland
Gene Frequency
Genetic Variation
Genetics, Population
Genotype
Hemochromatosis
Humans
Point Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Genetic

Polymorphism, Restriction Fragment Length

Prevalence

Sweden

Tyrosine

Source

Identifiers

PMID: 9358014
DOI: 10.1159/000154422

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9358014-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism.PMID 9358014Read ↗

High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population ‐implications for haemochromatosisSemantic proximity Read ↗

Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls.Semantic proximity Read ↗

Hemochromatosis gene HFE Cys282Tyr mutation analysis in a cohort of Northeast German hospitalized patients supports assumption of a North to South allele frequency gradient throughout Germany.Semantic proximity Read ↗

Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients.Semantic proximity Read ↗

Celtic origin of the C282Y mutation of hemochromatosis.Semantic proximity Read ↗

Frequency of the hemochromatosis C282Y and H63D mutations in a Polish population of Slavic origin.Semantic proximity Read ↗

Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings.Semantic proximity Read ↗

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Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands.Semantic proximity Read ↗

A European allele map of the C282Y mutation of hemochromatosis: Celtic versus Viking origin of the mutation?Semantic proximity Read ↗

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