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Titolo:
Prevalence of the C282Y mutation in Brittany: Penetrance of genetic hemochromatosis?
Autore:
Jouanolle, AM; Fergelot, P; Raoul, ML; Gandon, G; Roussey, M; Deugnier, Y; Feingold, J; Le Gall, JY; David, V;
Indirizzi:
Fac Med, CNRS, UPR 41, F-35043 Rennes, France Fac Med Rennes France F-35043 Med, CNRS, UPR 41, F-35043 Rennes, France CHU Pontchaillou, Serv Genet Mol & Hormonol, F-35033 Rennes, France CHU Pontchaillou Rennes France F-35033 Hormonol, F-35033 Rennes, France Hop Fontenoy, Serv Pediat, F-35056 Rennes, France Hop Fontenoy Rennes France F-35056 , Serv Pediat, F-35056 Rennes, France CHU Pontchaillou, Clin Malad Foie, F-35033 Rennes, France CHU Pontchaillou Rennes France F-35033 alad Foie, F-35033 Rennes, France INSERM, U155, F-75271 Paris 05, France INSERM Paris France 05INSERM, U155, F-75271 Paris 05, France
Titolo Testata:
ANNALES DE GENETIQUE
fascicolo: 4, volume: 41, anno: 1998,
pagine: 195 - 198
SICI:
0003-3995(1998)41:4<195:POTCMI>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
MAJOR HISTOCOMPATIBILITY COMPLEX; HEREDITARY HEMOCHROMATOSIS; HLA-H; IDIOPATHIC HEMOCHROMATOSIS; CYS282TYR MUTATION; CANDIDATE GENE; IRON OVERLOAD; EXPRESSION; HAPLOTYPE; HOMOZYGOSITY;
Keywords:
hemochromatosis; HFE; mutation; prevalence; penetrance;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
34
Recensione:
Indirizzi per estratti:
Indirizzo: David, V Fac Med, CNRS, UPR 41, Ave Prof Leon Bernard, F-35043 Rennes, France Fac Med Ave Prof Leon Bernard Rennes France F-35043 nnes, France
Citazione:
A.M. Jouanolle et al., "Prevalence of the C282Y mutation in Brittany: Penetrance of genetic hemochromatosis?", ANN GENET, 41(4), 1998, pp. 195-198

Abstract

Hemochromatosis (GH) is an inborn error of iron metabolism, characterized by progressive iron loading that, if untreated, causes high morbidity and death. The gene responsible for the disease (HFE), located 4.5 megabases telomeric to the HLA-A locus, encodes a protein homologous to class I MHC molecules. A main mutation, C282Y, has been identified within the gene. Although hemochromatosis is considered as the most frequent inherited disease in the populations of Northern European origin, its prevalence in Brittany had not been evaluated yet. In this issue we report the C282Y mutation frequency in a cohort of 1000 newborns from maternity hospitals of the four breton departements. The homozygote frequency was 5 parts per thousand and heterozygote frequency was 12%; such high frequencies raise the question of the penetrance of the disease and the relevance of systematic genotypic screeningfor hemochromatosis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/03/20 alle ore 10:56:40