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Article

Rapid genetic screening for haemochromatosis using heteroduplex technology.

British journal of haematology - 1 Sept 1997

Jackson H A, Bowen D J, Worwood M

Abstract excerpt

The recently described association between haemochromatosis and mutations in the HFE or HLA-'H' gene has prompted the need for a simple and rapid genetic test capable of detecting multiple mutations simultaneously. Heteroduplex analysis, a new diagnostic technique, fulfills such criteria and we have investigated the potential for the detection of the Cys282Tyr mutation. 100 subjects were genotyped using the...

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Source

Identifiers

PMID: 9326178
DOI: 10.1046/j.1365-2141.1997.3193136.x

Genes

HFE

Provenance

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.

Related research

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Rapid genetic screening for haemochromatosis using heteroduplex technology.PMID 9326178Read ↗

Use of denaturing HPLC and a heteroduplex generator to detect the HFE C282Y mutation associated with genetic hemochromatosis.Semantic proximity Read ↗

Haemochromatosis: automated detection of the two point mutations in the HFE gene: Cys282Tyr and His63Asp.Semantic proximity Read ↗

A rapid automated SSCP multiplex capillary electrophoresis protocol that detects the two common mutations implicated in hereditary hemochromatosis (HH).Semantic proximity Read ↗

Genetic diagnosis of factor V Leiden using heteroduplex technology.Semantic proximity Read ↗

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A rapid non-invasive method for the detection of the haemochromatosis C282Y mutation.Semantic proximity Read ↗

Rapid diagnosis of asymptomatic hereditary haemochromatosis by detection of the Cys282Tyr mutation in the HLA-H gene.Semantic proximity Read ↗

Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis.Semantic proximity Read ↗

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A rapid method of haplotyping HFE mutations and linkage disequilibrium in a Caucasoid population.Semantic proximity Read ↗

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

Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis.Semantic proximity Read ↗

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