Related Experiment Videos
Detection of C282Y and H63D in the HFE gene
J J Pointon1, A T Merryweather-Clarke, M Carella
1MRC Molecular Haematology Unit, Institute Molecular Medicine, Headington, Oxford, UK. jenny@hammer.imm.ox.ac.uk
Genetic Testing
|August 23, 2000
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.