title: Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada).
abstract: 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.
authors.affiliation: Laboratoire de Microbiologie, Complexe Hospitalier de la Sagamie, Chicoutimi, Québec, Canada.
authors.forename: S R
authors.initials: SR
authors.lastname: Rivard
authors.forename: C
authors.initials: C
authors.lastname: Mura
authors.forename: H
authors.initials: H
authors.lastname: Simard
authors.forename: R
authors.initials: R
authors.lastname: Simard
authors.forename: D
authors.initials: D
authors.lastname: Grimard
authors.forename: G
authors.initials: G
authors.lastname: Le Gac
authors.forename: O
authors.initials: O
authors.lastname: Raguenes
authors.forename: C
authors.initials: C
authors.lastname: Férec
authors.forename: M
authors.initials: M
authors.lastname: De Braekeleer
mesh_terms: D000483:Alleles; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D010375:Pedigree; D017354:Point Mutation; D015995:Prevalence; D011792:Quebec / Q000453:epidemiology
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins