Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada).
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.
Rivard
S R
SR
Laboratoire de Microbiologie, Complexe Hospitalier de la Sagamie, Chicoutimi, Québec, Canada.
Mura
C
C
Simard
H
H
Simard
R
R
Grimard
D
D
Le Gac
G
G
Raguenes
O
O
Férec
C
C
De Braekeleer
M
M
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
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins