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Titolo:
Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca
Autore:
Guix, P; Picornell, A; Parera, M; Tomas, C; Muncunill, J; Castro, JA; Rossell, J; Vaquer, P; Ramon, MM; Obrador, A;
Indirizzi:
Hosp Son Dureta, Serv Anal Clin Digest & Genet, Palma de Mallorca 07003, Baleaeres, Spain Hosp Son Dureta Palma de Mallorca Baleaeres Spain 07003 Baleaeres, Spain Univ Illes Balears, Dept Biol, Genet Lab, Palma de Mallorca, Baleares, Spain Univ Illes Balears Palma de Mallorca Baleares Spain rca, Baleares, Spain
Titolo Testata:
CLINICAL GENETICS
fascicolo: 2, volume: 58, anno: 2000,
pagine: 123 - 128
SICI:
0009-9163(200008)58:2<123:POTCMF>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYMERASE-CHAIN-REACTION; HLA-H GENE; HEREDITARY HEMOCHROMATOSIS; HFE GENE; TRANSFERRIN RECEPTOR; H63D MUTATIONS; POPULATION; EXPRESSION; CYS282TYR; PROBANDS;
Keywords:
C282Y mutation; European/Celtic populations; hereditary haemochromatosis; HFE gene;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
42
Recensione:
Indirizzi per estratti:
Indirizzo: Guix, P Hosp Son Dureta, Lab Carmen, C Carmen 18, Palma de Mallorca 07003,Baleaeres, Spain Hosp Son Dureta C Carmen 18 Palma de Mallorca Baleaeres Spain 07003
Citazione:
P. Guix et al., "Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca", CLIN GENET, 58(2), 2000, pp. 123-128

Abstract

The C282Y mutation of the HFE gene has been reported to be present in mostof the patients with hereditary haemochromatosis (HH) of Northern Europeanancestry. HH affects approximately 1/300 individuals, but it is not evenlydistributed in the different European countries. In the present study, polymerase chain reaction (PCR) and restriction-enzyme digestion were used to analyse the frequency of the most important mutation in haemochromatosis (C282Y) in subjects from Majorca (Balearic Islands, Spain) and patients with haemochromatosis. The results were compared with other studies from Spain and Europe. A total of 420 Majorcan chromosomes were analysed and the C282Y mutation was observed at a frequency of 2.62% +/- 0.8 (11 heterozygotes: eight men and three women). In the group of hereditary haemochromatosis probands, 13 out of 14 were homozygous for the C282Y mutation. In the distribution of the C282Y mutation. a north-west to south-east cline was detected, supporting the Celtic origin of this mutation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 13/07/20 alle ore 16:54:11