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

European Journal of Human Genetics

Volumn 11, Issue 8, 2003, Pages 585-589

  Rivard, Sylvain R ^a,b   Lanzara, Carmela ^b,c   Grimard, Doria ^a   Carella, Massimo ^b   Simard, Hervey ^a   Ficarella, Romina ^b,c   Simard, Raynald ^a   D'Adamo, Adamo Pio ^b   Férec, Claude ^d   Camaschella, Clara ^e   Mura, Cathrine ^d   Roetto, Antonella ^e   De Braekeleer, Marc ^d   Bechner, Lucien ^f   Gasparini, Paolo ^b,c  

^a SAGEN PHARMA   (Canada)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^e UNIVERSITY OF TURIN   (Italy)

^f CHU Morvan/Univ de Bretagne Occid ^*  (France)

Author keywords

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

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CANADA; CHROMOSOME 1Q; CHROMOSOME MARKER; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC RECOMBINATION; HAPLOTYPE; HEMOCHROMATOSIS; HUMAN; IRON OVERLOAD; LINKAGE ANALYSIS; MALE; POPULATION GENETICS; PRIORITY JOURNAL; SCORING SYSTEM;

ADULT; CANADA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; GENETIC MARKERS; HAPLOTYPES; HEMOCHROMATOSIS; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; PEDIGREE;

EID: 10744230412     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201009     Document Type: Article

References (22)

1. Rivard SR, Mura C, Simard H et al: Clinical and molecular aspects of Juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Québec, Canada): Blood Cells, Mol Dis 2000; 26: 10-14.
2. Camaschella C: Juvenile hemochromatosis. Baillieres Clin Gastroenterol 1998; 12: 227-235.
3. Cazzola M, Ascari E, Barosi G et al: Juvenile idiopathic hemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. Hum Genet 1983; 65: 149-154.
4. Camaschella C, Roetto A, Cicilano M et al: Juvenile and adult hemochromatosis are distinct genetic disorders. Eur J Hum Genet 1997; 5: 371-375.
5. De Gobbi M, Roetto A, Piperno A et al: Natural history of Juvenile Hemochromatosis. Br J aematol 2002; 117(4): 973-979 (Review).
6. Carella M, D'Ambrosio L, Totaro A et al:. Mutation analysis of HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 1997; 60: 828-832.
7. Ferder JN, Gnirke A, Thomas W et al: A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 1996; 13: 399-408.
8. Roetto A, Totaro A, Cazzola M et al: Juvenile hemochromatosis locus maps to chromosome1q. Am J Hum Genet 1999; 64: 1388-1393.
9. Papanikolaou G, Politou M, Roetto A et al: Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. Blood Cells Mol Dis 2001; 27: 744-749.
10. Papanikolaou G, Papaioannou M, Politou M et al: Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern greek origin. Blood Cells Mol Dis 2002; 29: 168-173.
11. Barton JC, Rao SV, Pereira NM et al: Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships. Blood Cells Mol Dis 2002; 29: 104-115.
12. Roetto A, Papanikolaou G, Politou M et al: Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003; 33: 21-22.
13. De Braekeleer M, St-Pierre C, Vigneault A et al: Hemochromatosis and pyruvate kinase deficiency. Report of a case and literature review. Ann Hematol 1991; 62: 188-189.
14. De Braekeleer M, Vigneault A, Roy R, Simard H: Hereditary hemochromatosis and HLA antigens in Saguenay-Lac-Saint-Jean (Québec, Canada). 1992; Repport, Laboratoire de recherches en Épidémiologie Génétique, Université du Québec à Chicoutimi.
15. De Braekeleer M: A prevalence and fertility study of hemochromatosis in Saguenay-Lac-Saint-Jean. Ann Hum Biol 1993; 20: 501-505.
16. Braekeleer M: Inbreeding, kinship and surnames in hereditary disorders: the experience in Saguenay-Lac-Saint-Jean (Québec). Collegium Antropologicum 1995; 19: 289-304.
17. Rivard SR, Mura C, Simard H et al: Mutation analysis in the HFE gene in patients with hereditary hemochromatosis in Saguenay-Lac-Saint-Jean (Québec, Canada). Br J Haematol 2000; 108: 854-858.
18. Lathrop GM, Lalouel JM, Julier C, Ott J: Related articles, links strategies for mulitilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984; 81: 3443-3446.
19. Lathrop GM, Lalouel JM: Related articles, Links easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984; 36: 460-465.
20. Mukhopadhyay N, Almasy L, Schroeder M, Mulvihill WP, Weeks DE: Mega2, a data-handling program for facilitating genetic linkage and association analyses. Am J Hum Genet 1999; 65: A436.
21. Sobel E, Lange K: (SIMWALK2) Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker sharing statistics. Am J Hum Genet 1996; 58: 1323-1337.
22. De Braekeleer M. Autosomal recessive disorders in Saguenay-Lac-Saint-Jean, Québec: A study of inbreeding. Ann Hum Genet 1996; 60(PC1): 51-56.