title: Detection of C282Y and H63D in the HFE gene.
abstract: The gene for hemochromatosis was identified in 1996 and two mutations were found. Homozygosity for one of these, C282Y, is associated with hemochromatosis in a high percentage of patients. Genetic analysis of patient DNA is, therefore, a very useful tool to aid and confirm diagnosis and to screen asymptomatic relatives of patients to identify those at risk of developing this common, easily treated disease.
authors.affiliation: MRC Molecular Haematology Unit, Institute Molecular Medicine, Headington, Oxford, UK. jenny@hammer.imm.ox.ac.uk
authors.forename: J J
authors.initials: JJ
authors.lastname: Pointon
authors.forename: A T
authors.initials: AT
authors.lastname: Merryweather-Clarke
authors.forename: M
authors.initials: M
authors.lastname: Carella
authors.forename: K J
authors.initials: KJ
authors.lastname: Robson
mesh_terms: D017931:DNA Primers; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins; D009154:Mutation; D009692:Nucleic Acid Heteroduplexes; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D017931:DNA Primers; C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D009692:Nucleic Acid Heteroduplexes