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Titolo:
Frequency analysis and allele map in favor of the Celtic origin of the C282Y mutation of hemochromatosis
Autore:
Lucotte, G;
Indirizzi:
Int Inst Anthropol, Paris, France Int Inst Anthropol Paris FranceInt Inst Anthropol, Paris, France
Titolo Testata:
BLOOD CELLS MOLECULES AND DISEASES
fascicolo: 2, volume: 27, anno: 2001,
pagine: 549 - 556
SICI:
1079-9796(200103/04)27:2<549:FAAAMI>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
CYSTIC-FIBROSIS MUTATIONS; PORPHYRIA-CUTANEA-TARDA; HEREDITARY HEMOCHROMATOSIS; HFE GENE; H63D MUTATIONS; HLA-H; HIGH PREVALENCE; CANDIDATE GENE; POPULATION; HETEROGENEITY;
Keywords:
hemochromatosis; HFE gene; C282Y mutation; populations in Europe; C282Y frequencies; Celtic origin;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
55
Recensione:
Indirizzi per estratti:
Indirizzo: Lucotte, G Int Inst Anthropol, Paris, France Int Inst Anthropol Paris France nst Anthropol, Paris, France
Citazione:
G. Lucotte, "Frequency analysis and allele map in favor of the Celtic origin of the C282Y mutation of hemochromatosis", BL CELL M D, 27(2), 2001, pp. 549-556

Abstract

After the main hereditary hemochromatosis mutation C282Y in the HFE gene was described, we report here the C282Y frequencies for various European populations. The aim of this meta-analysis is to compile the Y allele frequencies of the C282Y mutation for 53 European populations, representing a totalof 9265 unrelated people representing control samples. The most elevated values are observed in residual Celtic populations in Ireland, in the UnitedKingdom, and in France, in accordance with the initial hypothesis of Simonet al. (Prog. Med. Genet. 4, 135-168, 1980) concerning a Celtic origin of the hereditary hemochromatosis mutation. (C) 2001 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/06/20 alle ore 01:26:01