A candidate gene for hemochromatosis: Frequency of the C282Y and H63D mutations

Human Genetics

Volumn 100, Issue 5-6, 1997, Pages 544-547

  Jouanolle, Anne Marie ^a   Fergelot, Patricia ^b   Gandon, Gwénola ^b   Yaouanq, Jacqueline ^a   Le Gall, Jean Yves ^b   David, Véronique ^b  

^a PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^b Faculté de Médecine   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 6P; CONTROLLED STUDY; FRANCE; GENE MUTATION; HEMOCHROMATOSIS; HLA SYSTEM; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATION RATE; PRIORITY JOURNAL;

CHROMOSOMES, HUMAN, PAIR 6; FRANCE; GENE FREQUENCY; GENES, MHC CLASS I; HAPLOTYPES; HEMOCHROMATOSIS; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; MUTATION;

EID: 0031419386     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050549     Document Type: Article

References (17)

1. Boretto J, Jouanolle AM, Yaouanq J, El Kahloun A, Mauvieux V, Blayau M, Perichon M, Le Treut A, Clayton J, Borot N, Le Gall JY, Pontarotti P, David V (1992) Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis. Hum Genet 89:33-36
2. Calandro LM, Baer DM, Sensabaugh GF (1995) Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F. Hum Genet 96:339-342
3. David V, Papadopoulos P, Yaouanq J, Blayau M, Abel L, Zappone E, Perichon M, Dysdale J, Le Gall JY, Simon M (1989) Ferritin H gene polymorphism in idiopathic hemochromatosis. Hum Genet 81:123-126
4. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK (1996) A novel MHC class Mike gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13:399-408
5. Gandon G, Jouanolle AM, Chauvel B, Mauvieux V, Le Treut A, Feingold J, Le Gall JY, David V, Yaouanq J (1996) Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE). Hum Genet 97:103-113
6. Jazwinska EC, Lee SC, Webb SI, Halliday JW, Powell LW (1993) Localization of the hemochromatosis gene close to D6S105. Am J Hum Genet 53:347-352
7. Jazwinska EC, Pyper WR, Burt MJ, Francis JL, Goldwurm S, Webb SI, Lee SC, Halliday JW, Powell LW (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. Am J Hum Genet 56:428-433
8. Jazwinska EC, Cullen LM, Busfield F, Pyper WR, Webb SI, Powell LW, Philip Morris C, Walsh TP (1996) Haemochromatosis and HLA-H. Nat Genet 14:249-251
9. Jouanolle AM, Gandon G, Jezequel P, Blayau M, Mosser J, Fergelot P, Chauvel B, Bouric P, Carn G, Andrieux N, Gicquel I, Campion ML, Yaouanq J, Le Gall JY, David V (1996) Haemochromatosis and HLA-H. Nat Genet 14:251-252
10. Lalouel JM, Le Mignon L, Simon M, Fauchet R, Bourel M, Rao DC, Morton NE (1985) Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information. Am J Hum Genet 37:700-718
11. Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampish HJ, Stromeyer G (1985) Survival and causes of death in cirrhotic and non-cirrhotic patients with primary hemochromatosis. N Engl J Med 14:1256-1262
12. Raha-Chowdhury R, Bowen DJ, Stone C, Pointon JJ, Terwilliger JD, Shearman JD, Robson KJH, Bomford A, Worwood M (1995) New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Hum Mol Genet 4:1869-1874
13. Simon M (1990) Disorders of iron metabolism and related disorders. In: Emery AE, Rimoin DL (eds) Principle and practice of medical genetics, 2nd edn. Churchill Livingstone, Edinburgh, pp 1783-1796
14. Simon M, Bourel M, Fauchet R, Genetet B (1976) Association of HLA A3 and HLA B14 antigens with idiopathic haemochromatosis. Gut 17:332-334
15. Simon M, Le Mignon L, Fauchet R, Yaouanq J, David V, Edan G, Bourel M (1987) A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. Am J Hum Genet 41:89-105
16. Worwood M, Raha-Chowdhury R, Dorak MT, Darke C, Bowen DJ, Burnett AK (1994) Alleles at D6S265 and D6S105 define a hemochromatosis-specific genotype. Br J Haematol 86:863-866
17. Yaouanq J, Perichon M, Chorney M, Pontarotti P, Le Treut A, El Kahloun A, Mauvieux V, Blayau M, Jouanolle AM, Chauvel B, Moirand R, Nouel O, Le Gall JY, Feingold J, David V (1994) Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE). Am J Hum Genet 54:252-263