title: Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.
abstract: Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder that causes iron overload. In the French Canadian region of Saguenay Lac-Saint-Jean the worldwide largest cohort of JH cases has been identified. Here, we report the mapping of this large cohort of cases to the HFE2 locus on chromosome 1q. A maximum multipoint location score of 7.02 was observed with marker D1S2344. A common ancestral haplotype, showing the presence of a founder effect, was identified. The analysis of recombinants allowed us to confirm the JH candidate region.
authors.affiliation: SAGEN PHARMA, 1381 rue Adélard Plourde, Ville de Saguenay, Québec, Canada.
authors.forename: Sylvain R
authors.initials: SR
authors.lastname: Rivard
authors.forename: Carmela
authors.initials: C
authors.lastname: Lanzara
authors.forename: Doria
authors.initials: D
authors.lastname: Grimard
authors.forename: Massimo
authors.initials: M
authors.lastname: Carella
authors.forename: Hervey
authors.initials: H
authors.lastname: Simard
authors.forename: Romina
authors.initials: R
authors.lastname: Ficarella
authors.forename: Raynald
authors.initials: R
authors.lastname: Simard
authors.forename: Adamo Pio
authors.initials: AP
authors.lastname: D'Adamo
authors.forename: Claude
authors.initials: C
authors.lastname: Férec
authors.forename: Clara
authors.initials: C
authors.lastname: Camaschella
authors.forename: Cathrine
authors.initials: C
authors.lastname: Mura
authors.forename: Antonella
authors.initials: A
authors.lastname: Roetto
authors.forename: Marc
authors.initials: M
authors.lastname: De Braekeleer
authors.forename: Lucien
authors.initials: L
authors.lastname: Bechner
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
mesh_terms: D000328:Adult; D002170:Canada / Q000208:ethnology; D002874:Chromosome Mapping / Q000379:methods*; D002878:Chromosomes, Human, Pair 1; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree
chemical_list: D005819:Genetic Markers