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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 restriction site. We have studied the codon 282 (Cys/Tyr) polymorphism in different ethnic groups. In agreement with previous...

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Identifiers

PMID: 9358014
DOI: 10.1159/000154422

Genes

HFE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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 ↗

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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 ↗

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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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