High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population: Implications for haemochromatosis

Tissue Antigens

Volumn 52, Issue 5, 1998, Pages 484-488

  Murphy, S ^a   Curran, M D ^a   McDougall, N ^b   Callender, M E ^b   O'Brien, C J ^c   Middleton, D ^a,d  

^a BELFAST CITY HOSPITAL   (United Kingdom)

^b ROYAL VICTORIA HOSPITAL   (United Kingdom)

^c DAISY HILL HOSPITAL   (United Kingdom)

^d QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

Haemochromatosis; HFE gene mutations; PCR SSOP

Indexed keywords

HLA A ANTIGEN; HLA B ANTIGEN;

ARTICLE; CLINICAL ARTICLE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC SCREENING; HEMOCHROMATOSIS; HUMAN; INCIDENCE; NORMAL HUMAN; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; UNITED KINGDOM;

EID: 0031744037     PISSN: 00012815     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0039.1998.tb03076.x     Document Type: Article

References (18)

1. Powell LW, Jazwinska EC. Hemochromatosis in heterozygotes. N Engl J Med 1996: 335: 1837-9.
2. Niederau C, Fischer R, Sonnenberg A et al. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary haemochromatosis. N Engl J Med 1985: 313: 1256-62.
3. Cox TM. Haemochromatosis. Blood Rev 1990: 4: 75-87.
4. Simon M, Bourel M, Fauchet R et al. Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut 1976: 17: 332-4.
5. Feder JN, Gnirke A, Thomas W et al. A novel MHC class Mike gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996: 13: 399-408.
6. Parkkila S, Waheed A, Britton RS et al. Immunohistochemistry of HLA-H. the protein defective in patients with hereditary hemochromatasis, reveals unique pattern of expression in gastrointestinal tract. Proc Natl Acad Sci U S A 1997: 94: 2534-9.
7. 2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc Natl Acad Sci U S A 1997: 94: 12384-9.
8. Beutler E. Genetic irony beyond haemochromatosis: clinical effects of HLA-H. mutations. Lancet 1997: 349: 296-7.
9. Borot N, Roth MP, Malfroy L et al. Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients. Immunogenetics 1997: 45: 320-4.
10. Mura C, Nousbaum J-M, Verger P et al. Phenotype-genotype correlation in haemochromatosis subjects. Hum Genet 1997: 101: 271-6.
11. Carella M, D'Ambrosio L, Totaro A et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 1997: 60: 828-32.
12. Jazwinska EC, Cullen LM, Busfield F et al. Haemochromatosis and HLA-H. Nat Genet 1996: 14: 249-51.
13. Merryweather-Clarke AT, Pointon JJ, Shearman JD et al. Global prevalence of putative haemochromatosis mutation. J Med Genet 1997: 34: 275-8.
14. Williams F, Mallon E, Middleton D. Development of PCR-SSOP for HLA-A typing of bone marrow registry donors. Tissue Antigens 1997: 49: 61-6.
15. Middleton D, Williams F, Cullen C et al. Modification of a HLA-B PCR-SSOP typing system leading to improved allele determination. Tissue Antigens 1995: 45: 232-6.
16. Middleton D, Hughes DJ, Williams F et al. A new DRB1 allele DRB1*1107 - a combination of DRB1*11 and DRB1*03. Tissue Antigens 1993: 42: 160-3.
17. Mullighan CG, Bunce M, Fanning GC et al. A rapid method of haplotyping HFE mutations, and linkage disequilibrium in a Caucasoid population. Gut 1998: 42: 566-9.
18. Robson KJH, Worwood M, Shearman M et al. A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut 1997: 41: 841-4.