Detection of C282Y and H63D in the HFE gene.

Journal article

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: Pointon, J; Merryweather-Clarke, A; Carella, M; Robson, K

• Publication status: Published
• Journal: Genetic testing
• Volume: 4
• Issue: 2
• Pages: 115-120
• Publication date: 2000-01-01
• DOI: 10.1089/10906570050114803
• EISSN: 1557-7473
• ISSN: 1090-6576
• Language: English
• Keywords: Polymorphism, Restriction Fragment Length; Hemochromatosis; HLA Antigens; Membrane Proteins; Mutation; Nucleic Acid Heteroduplexes; Humans; Histocompatibility Antigens Class I; Polymorphism, Single-Stranded Conformational; DNA Primers; Polymerase Chain Reaction