Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population

Sylvain R. Rivard, 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

Research output: Contribution to journalArticle

25 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)585-589
Number of pages5
JournalEuropean Journal of Human Genetics
Volume11
Issue number8
DOIs
Publication statusPublished - Aug 1 2003

Fingerprint

Chromosomes
Population
Founder Effect
Saints
Iron Overload
Haplotypes
Type 2 Hemochromatosis

Keywords

  • Chromosome 1q
  • French Canadian population
  • HFE2
  • Juvenile hemochromatosis
  • Linkage analysis

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. / Rivard, Sylvain R.; Lanzara, Carmela; Grimard, Doria; Carella, Massimo; Simard, Hervey; Ficarella, Romina; Simard, Raynald; D'Adamo, Adamo Pio; Férec, Claude; Camaschella, Clara; Mura, Cathrine; Roetto, Antonella; De Braekeleer, Marc; Bechner, Lucien; Gasparini, Paolo.

In: European Journal of Human Genetics, Vol. 11, No. 8, 01.08.2003, p. 585-589.

Research output: Contribution to journalArticle

Rivard, SR, Lanzara, C, Grimard, D, Carella, M, Simard, H, Ficarella, R, Simard, R, D'Adamo, AP, Férec, C, Camaschella, C, Mura, C, Roetto, A, De Braekeleer, M, Bechner, L & Gasparini, P 2003, 'Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population', European Journal of Human Genetics, vol. 11, no. 8, pp. 585-589. https://doi.org/10.1038/sj.ejhg.5201009
Rivard, Sylvain R. ; Lanzara, Carmela ; Grimard, Doria ; Carella, Massimo ; Simard, Hervey ; Ficarella, Romina ; Simard, Raynald ; D'Adamo, Adamo Pio ; Férec, Claude ; Camaschella, Clara ; Mura, Cathrine ; Roetto, Antonella ; De Braekeleer, Marc ; Bechner, Lucien ; Gasparini, Paolo. / Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. In: European Journal of Human Genetics. 2003 ; Vol. 11, No. 8. pp. 585-589.
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