Global prevalence of putative haemochromatosis mutations.

Journal of Medical Genetics - Tập 34 Số 4 - Trang 275-278 - 1997
Alison T. Merryweather‐Clarke1, Jennifer J. Pointon1, Jeremy D. Shearman1, Kathryn Robson1
1MRC Molecular Haematology Unit, John Radcliffe Hospital, Headington, Oxford, UK.

Tóm tắt

Từ khóa


Tài liệu tham khảo

Bothwell TH, Charlton RW, Motulsky AG. Hemochromatosis. In: Scriver CR, Beaudet AL, Sly WS, eds. The molecular basis of inherited disease. New York: McGraw-Hill, 1995:2237-69.

Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996;110: 1107-119.

Olssen KS, Ritter B, Rosen U, Heedman PA, Staugard F. Prevalence of iron overload in central Sweden. Acta Med Scand 1983;213:145-50.

Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 1988;318:1355-62.

Beutler E, Gelbart T, West C, et al. Mutation analysis in hereditary haemochromatosis. Blood Cells Mol Dis 1996;22: 11 Jou1a8n7-o9l4l.e AM, Gandon G,Jezequel P, et al. Scientific correspondence. Nat Genet 1996;14:251-2.

Calandro L, Thorsen T, Barcellos L, Griggs J, Baer D, Sensabaugh GF. Mutation analysis in hereditary haemochromatosis - commentary. Blood Cells Mol Dis 1996;22:194A- B.

Simon M, LeMignon L, Fauchet R, et al. A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HIA association. Am J Hum Genet 1987;41:89-105.

Smith BN, Kantrowitz W, Grace ND, et al. Is British-Irish ancestry a risk factor for genetic hemochromatosis? International association for the study of disorders of iron metabolism, Boston, 1995:A33:75.

Karlsson M, Ikkala E, Reunanen A. Prevalence of hemochromatosis in Finland. Acta Med Scand 1988;224: 385-90.

Cavalli-Sforza LL, Piazza A. Human genomic diversity in Europe: a summary of recent research and prospects for the future. Eur JHum Genet 1993;1:3-18.

Oliver M, Scully L, Guiraudon C, Adams PC. Non-HLA- linked hemochromatosis in a Chinese woman. Dig Dis Sci 1995;40: 1589-91.

Eason RJ, Aston CE, Adams PC, Searle J. Familial iron overload with possible autosomal dominant inheritance. Aust NZJtMed 1990;29:226-30.

Bothwell TH, Abrahams C, Bradlow BA, Charlton RW. Idiopathic and Bantu hemochromatosis - comparative histological study. Arch Pathol 1965;79: 163-8.

Gordeuk V, Mukiibi J, Hasstedt SJ, et al. Iron overload in Africa: interaction between a gene and dietary iron content. N EnglJ Med 1992;326:95-100.

Barton JC, Edwards CQ, Bertoli LF, Shroyer TW, Hudson SL. Iron overload in African Americans. Am J Med 1995;99:616-23.

Baer D. Hereditary iron overload and African Americans. Am JMed 1996;100:5-8.

Wurapa RK, Gordeuk VR, Brittenham GM, Khiyami A, Schechter GP, Edwards CQ. Primary iron overload in African Americans. Am JMed 1996;101:9-18.

Moirand R, Mortaji AM, Loreal 0, Paillard F, Brissot P, Deugnier Y A new syndrome of liver iron overload with normal transferrin saturation. Lancet 1997;349:95-7.

Beaumont C, Leneuve P, Devaux I, et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominat hyperferritinaemia and cataract. Nat Genet 1995;11:444-6.

Girelli D, Corrocher R, Bisceglia L, et al. Molecular basis for the recently described hereditary hyperferritinemiacataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation"). Blood 1995;86:4050-3.

MacDonald RA. Hemochromatosis and cirrhosis in different geographic areas. Am JMed Sci 1965;249:36-46.

Simon M, Pawlotsky Y, Bourel M, Fauchet R, Genetet B. Hemochromatose idiopathique. Maladie associ&e a l'antigene tissulaire HL-A3? NouvPresse Med 1975;4: 1432.

Treacy E, ByckS, Clow C, Scriver CR. "Celtic" phenylketonuria chromosomes found? Evidence in two regions of Quebec Province.Eur3 Hum Genet 1993;1:220-8.

Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih VE. Molecular basis of cystathionine 3-synthase deficiency in pyroxidone responsive and nonresponsive homocystinuria. Hum Mol Genet 1993;2:1857-60.

Long CC, Marks R. Increased risk of skin cancer: another Celtic myth? A review of Celtic ancestry and other risk factors for malignant and nonmelanoma skin cancer. J Am Acad Dermatol 1995;33:658-61.

MartinsonJJ, Chapman NH, Rees DC, Liu YT, Clegg JB. Global distribution of the CCR-5 gene 32 basepair deletion. Nat Genet (in press).

Cox DW, Woo SLC, Mansfield T. DNA restriction fragments associated with al-antitrypsin indicate a single origin for deficiency allele PIZ. Nature 1985;316:79-81.

The Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mutat 1994;4: 167-77.

Morral N, Bertranpetit J, Estivill X, et al. The origin of the major cystic fibrosis mutation (AF508) in European populations. Nat Genet 1994;7:169-75.

SawcerS, Jones HB, Feakes R, et al. A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat Genet 1996;13:464-8.

The Multiple Sclerosis Genetics Group, represented by Haines JL, et al. A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. Nat Genet 1996;13:469-71.

Daniels SE, BhattacharyaS, James A, et al. A genome-wide search for quantitative trait loci underlying asthma. Nature 1996; 383:247-50.

Adams PC, Gregor JC, Kertesz AE, Valberg LS. Screening blood donors for hereditary hemochromatosis: decision analysis model based on a 30-year database. Gastroenterology 1995;109:177-88.