Phenotype-genotype correlation in haemochromatosis subjects

Human Genetics

Volumn 101, Issue 3, 1997, Pages 271-276

  Mura, Catherine ^a   Nousbaum, Jean Baptiste ^b   Verger, Paul ^c   Moalic, Marie Thèrèse ^a   Raguenes, Odile ^a   Mercier, Anne Yvonne ^a   Ferec, Claude ^a  

^a UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^b SERVICE DE RHUMATOLOGIE   (France)

^c Centre Hospitalier de Cornouaille   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DNA MARKER; FERRITIN; HLA ANTIGEN; IRON; TRANSFERRIN;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; FERRITIN BLOOD LEVEL; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY GENE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PHLEBOTOMY; PRIORITY JOURNAL;

FEMALE; FERRITINS; GENE FREQUENCY; GENETIC HETEROGENEITY; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; IRON; MALE; MEMBRANE PROTEINS; MUTATION; PHENOTYPE;

EID: 0031433062     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050628     Document Type: Article

References (28)

1. Barton JC, Shih WWH, Sawada-Hirai R, Acton RT, Harmon L, Rivers C, Rothenberg BE (1997) Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. Blood Cells Mol Dis 23:135-145
2. Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, Pockros P, Kosty M, Venditti CP, Phatak PD, Seese NK, Chorney KA, Eishof AET, Gerhard GS, Chorney M (1996) Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 22:187-194
3. Borot N, Roth MP, Malfroy L, Demangel C, Vinel JP, Pascal JP, Coppin H (1997) Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients. Immunogenetics 45:320-324
4. Bulaj ZJ, Griffen LM, Jorde LB, Edwards CQ, Kushner JP (1996) Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med 335:1799-1805
5. Camaschella C, Roetto A, Gasparini P, Piperno A, Fortina P, Surrey S, Rappaport E (1996) Allelic association of microsatellites of 6p in Italian hemochromatosis patients. Hum Genet 97:476-481
6. Carella M, D'Ambrosio L, Totaro A, Grifa A, Valentino MA, Piperno A, Girelli D, Roetto A, Franco B, Gasparini P, Camashella C (1997) Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 60:828-832
7. Cartwright GE, Edwards CQ, Kravitz K, Skolnick M, Amos DB, Johnson A, Buskjaer L (1979) Hereditary hemochromatosis: phenotypic expression of the disease. N Engl J Med 301:175-179
8. Crawford DHG, Powell LW, Leggett BA, Francis JS, Fletcher LM, Webb SI, Halliday JW, Jazwinska EC (1995) Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene. Am J Hum Genet 57:362-367
9. Edwards CQ, Griffen LM, Goldar D, Drummond C, Skolnick MH, Kushner JP (1988) Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 318:1355-1362
10. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo JrR, Ellis MC, Fullan A, Hinton LM, Jones ML, 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, D rayana 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
11. Feder JN, Tsuchihashi Z, Irrinki A, Lee VK, Mapa FA, Morikang E, Prass CE, Starnes SM, Wolff RK, Parkkila S, Sly WS, Schatzman RC (1997) The hemochromatosis founder mutation in HLA-H disrupts β2-microglobulin interaction and cell surface expression. J Biol Chem 272:14025-14028
12. 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
13. 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
14. Jazwinska EC, Cullen LM, Busfield F, Pyper WR, Webb SI, Powell LW, Morris CP, Walsh TP (1996) Haemochromatosis and HLA-H. Nat Genet 14:249-251
15. Jouanolle AM, Gandon G, Jézéquel P, Blayau M, Campion ML, Mosser J, Fergelot P, Chauvel B, Bouric P, Cam G, Andrieux N, Gicquel I, Le Gall JY, David V (1996). Haemochromatosis and HLA-H. Nat Genet 14:251-252
16. Mercier B, Mura C, Ferec C (1997). Putting a hold on HLA-H. Nat Genet 15:234
17. Moirand R, Mortaji AM, Loréal O, Paillard F, Brissot P, Deugnier Y (1997) A new syndrome of liver iron overload with normal transferrin saturation. Lancet 349:95-97
18. Niedereau C, Fisher 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 313:1256-1262
19. Parkkila S, Waheed A, Britton R, Feder JN, Tsuehihashi Z, Schatzman RC, Bacon BR, Sly WS (1997) Immunochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc Natl Acad Sci USA 94:2534-2539
20. Powell LW, Summers KM, Board PG, Axelsen E, Webb S, Halliday JW (1990) Expression of hemochromatosis in homozygous subjects: implications for early diagnosis and prevention. Gastroenterology 98:1625-1632
21. Raha-Chowdhury R, Bowen DJ, Stone C, Pointon JJ, Terwilliger JD, Shearman JD, Robson KJH, Bomford A, Worwood M (1995 a) New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Hum Mol Genet 4:1869-1874
22. Raha-Chowdhury R, Bowen DJ, Burnett AK, Worwood M (1995 b) Allelic associations and homozygosity at loci from HLA-B to D6S299 in genetic haemochromatosis. J Med Genet 32:446-452
23. Seese NK, Venditti CP, Chorney KA, Gerhard GS, Ma J, Hudson TJ, Phatak PD, Chorney MJ (1996) Localization of the hemochromatosis disease gene: linkage disequilibrium analysis using an American patient collection. Blood Cells Mol Dis 22:36-46
24. Simon M, Bourel M, Fauchet R, Genetet B (1976) Association of HL A-A3 and HLA-B 14 antigens with idiopathic haemochromatosis. Gut 17:332-334
25. Simon M, Bourel M, Genetet B, Fauchet R (1977) Idiopathic hemochromatosis: demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med 297:1017-1021
26. Stone C, Pointon JJ, Jazwinska EC, Halliday JW, Powell LW, Robson KJH, Monaco AP, Weatherall DJ (1994) Isolation of CA dinucleotide repeats close to D6S105; linkage disequilibrium with haemochromatosis. Hum Mol Genet 3:2043-2046
27. Stremmel W, Riedel HD, Niedereau C, Strohmeyer G (1993) Pathogenesis of genetic haemochromatosis. Eur J Clin Invest 23:321-329
28. Terwilliger J (1995) A powerfull likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 56:777-787