Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population
Open Access
- 31 July 2003
- journal article
- research article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 11 (8) , 585-589
- https://doi.org/10.1038/sj.ejhg.5201009
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.Keywords
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