1. ¹SAGEN PHARMA, 1381 rue Adélard Plourde, Ville de Saguenay, Québec, Canada G7H 6M4
2. ²Tigem (Telethon Institute of Genetics and Medecine), Via Pietro Castellino, No.111, 80131 Napoli, Italy
3. ³Genetica Medica, Dipartimento di Patologia Generale, II Università degli Studi di Napoli, Italy
4. ⁴Service de Génétique Moléculaire et Histocompatibilité, CHU Morvan, Université de Bretagne Occidentale et EFS-Bretagne Brest, France
5. ⁵Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, Azienda Ospedaliera San Luigi, 10043-Orbassamo, Torino, Italy
6. ⁶Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan et Université de Bretagne Occidentale, Brest, France
7. ⁷CHU Cochin, Laboratoire Cassini, Paris, France

Correspondence: Dr P Gasparini, Telethon Institute of Genetics & Medecine (TIGEM), Via Pietro Castellino N.111, 80131 Napoli, Italy. Tel: +39 081 613 2227; Fax: 39 081 560 9877; E-mail: gasparini@tigem.it

Received 20 December 2002; Revised 4 March 2003; Accepted 12 March 2003.

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.