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Titolo:
Prevalence of HFE mutations in people from North Africa living in southernFrance
Autore:
Aguilar-Martinez, P; Picot, MC; Becker, F; Boulot, P; Montoya, F; Mares, P; Bachelard, B; Henry, Y; Delarbre, JL; Sarda, P; Schved, JF;
Indirizzi:
Montpellier Hosp, Haematol Lab, Montpellier, France Montpellier Hosp Montpellier France , Haematol Lab, Montpellier, France Montpellier Hosp, Dept Stat, Montpellier, France Montpellier Hosp Montpellier France osp, Dept Stat, Montpellier, France Montpellier Hosp, Dept Obstet, Montpellier, France Montpellier Hosp Montpellier France p, Dept Obstet, Montpellier, France Montpellier Hosp, Dept Neonatol, Montpellier, France Montpellier Hosp Montpellier France Dept Neonatol, Montpellier, France GREPAM CRLC, Montpellier, France GREPAM CRLC Montpellier FranceGREPAM CRLC, Montpellier, France Hosp Nimes, Dept Obstet, Nimes, France Hosp Nimes Nimes FranceHosp Nimes, Dept Obstet, Nimes, France Hosp Perpignan, Dept Obstet, Perpignan, France Hosp Perpignan Perpignan France rpignan, Dept Obstet, Perpignan, France Hosp Ales, Dept Obstet, Ales, France Hosp Ales Ales FranceHosp Ales, Dept Obstet, Ales, France
Titolo Testata:
BRITISH JOURNAL OF HAEMATOLOGY
fascicolo: 4, volume: 114, anno: 2001,
pagine: 914 - 916
SICI:
0007-1048(200109)114:4<914:POHMIP>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEMOCHROMATOSIS; NEWBORNS; C282Y; GENE;
Keywords:
haemochromatosis; neonatal screening; allele frequency; North Africans;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Aguilar-Martinez, P Hosp St Eloi, Hematol Lab, Ave Bertin Sans, F-34295 Montpellier 5, France Hosp St Eloi Ave Bertin Sans Montpellier France 5 nce
Citazione:
P. Aguilar-Martinez et al., "Prevalence of HFE mutations in people from North Africa living in southernFrance", BR J HAEM, 114(4), 2001, pp. 914-916

Abstract

The two main mutations of the HFE (haemochromatosis) gene, C282Y and H63D,were found previously to be rare or absent among Africans. Dried blood samples of 1276 newborns from southern France were analysed for both HFE mutations, and the origins of the four grandparents of each newborn were recorded. The allele frequency of C282Y and H63D was 3.0% +/- 0.7% and 16.9% +/- 1.5% respectively. In a subgroup of 171 newborns with four North African ancestries (mainly from Morocco and Algeria) the allele frequency was 0.9% (+2.5%)(-0.2%) for the C282Y and 13.2% +/- 3.6% for H63D. HFE mutations are not absent in individuals with North African origins living in southern Europe. This finding has implications for the diagnosis and screening of hereditary haemochromatosis in these populations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 19:44:14