Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.
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.
Rivard
Sylvain R
SR
SAGEN PHARMA, 1381 rue Adélard Plourde, Ville de Saguenay, Québec, Canada.
Lanzara
Carmela
C
Grimard
Doria
D
Carella
Massimo
M
Simard
Hervey
H
Ficarella
Romina
R
Simard
Raynald
R
D'Adamo
Adamo Pio
AP
Férec
Claude
C
Camaschella
Clara
C
Mura
Cathrine
C
Roetto
Antonella
A
De Braekeleer
Marc
M
Bechner
Lucien
L
Gasparini
Paolo
P
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
D005819:Genetic Markers