| Literature DB >> 12891378 |
Sylvain R Rivard1, Carmela Lanzara, Doria Grimard, Massimo Carella, Hervey Simard, Romina Ficarella, Raynald Simard, Adamo Pio D'Adamo, Claude Férec, Clara Camaschella, Cathrine Mura, Antonella Roetto, Marc De Braekeleer, Lucien Bechner, Paolo Gasparini.
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.Entities:
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Year: 2003 PMID： 12891378 DOI： 10.1038/sj.ejhg.5201009
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246