Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada).
Br J Haematol
; 108(4): 854-8, 2000 Mar.
Article
en En
| MEDLINE
| ID: mdl-10792295
A mutation analysis of the HFE gene followed, when applicable, by sequencing was performed on 47 patients with hereditary haemochromatosis (HH) living in Saguenay-Lac-Saint-Jean. The C282Y and H63D mutations were present on 50% and 20.3% of the HH chromosomes respectively. These frequencies were very different from those found in other populations and could be, at least partially, the result of a founder effect. No new mutation was identified among the remaining 28.1% of the HH chromosomes. Five of the eight probands with no mutation in the HFE gene had a severe and early onset suggestive of juvenile haemochromatosis.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Antígenos de Histocompatibilidad Clase I
/
Mutación Puntual
/
Hemocromatosis
/
Antígenos HLA
/
Proteínas de la Membrana
Tipo de estudio:
Prevalence_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
America do norte
Idioma:
En
Revista:
Br J Haematol
Año:
2000
Tipo del documento:
Article
País de afiliación:
Canadá