Detection of C282Y and H63D in the HFE gene

Authors
Pointon, JJ Merryweather-Clarke, AT Carella, M Robson, KJH
Citation
Jj. Pointon et al., Detection of C282Y and H63D in the HFE gene, GENET TEST, 4(2), 2000, pp. 115-120
Citations number
63
Categorie Soggetti
Molecular Biology & Genetics
Journal title
GENETIC TESTING
ISSN journal
10906576 → ACNP
Volume
4
Issue
2
Year of publication
2000
Pages
115 - 120
Database
ISI
SICI code
1090-6576(200022)4:2<115:DOCAHI>2.0.ZU;2-N
Abstract
The gene for hemochromatosis was identified in 1996 and two mutations mere found. Homozygosity for one of these, C282Y, is associated with hemochromat osis 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 as ymptomatic relatives of patients to identify those at risk of developing th is common, easily treated disease.