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Scandinavian Journal of Gastroenterology Volume 36, 2001 - Issue 11
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Research Article

Mutation Analysis of the HFE Gene in German Hemochromatosis Patients and Controls using Automated SSCP-based Capillary Electrophoresis and a New PCR-ELISA Technique

C. Hellerbrand, A. K. Bosserhoff, S. Seegers, G. Lingner, C. Wrede, G. Lock, J. Schölmerich, R. Büttner
Pages 1211-1216 | Published online: 08 Jul 2009

  • Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ. Global prevalence of putative haemochromatosis mutations. J Med Genet 1997;34:275-8.
  • 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.
  • Bacon BR. Diagnosis and management of hemachromatosis. Gastroenterology 1997; 113:995-9.
  • Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13.
  • Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet 1997;61:762-4.
  • Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 1998;95:1472-7.
  • Piperno A, Sampietro M, Pietrangelo A, Arosio C, Lupica L, Montosi G, et al. Heterogeneity of hemochromatosis in Italy. Gastroenterology 1998; 114:996-1002.
  • Jazwinska EC, Cullen LM, Busfield F, Pyper WR, Webb SI, Powell LW, et al. Haemochromatosis and HLA-R Nat Genet 1996;14:249-51.
  • The UK Haemochromatosis Consortium. A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut 1997;41:841-4.
  • Erhardt A, Niederau C, Osman Y, Hassan M, Haussinger D. HFE polymorphism in German patients with hereditary haemochromatosis. Dtsch Med Wochenschr 1999;124:1448-52.
  • Gottschalk R, Seidl C, Loffler T, Seifried E, Hoelzer D, Kaltwasser JP. HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis. Tissue Antigens 1998;51:270-5.
  • Nielsen P, Carpinteiro S, Fischer R, Cabeda JM, Porto G, Gabbe EE. Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany. Br J Haematol 1998; 103:842-5.
  • Scheuer PJ, Williams R, Muir AR. Hepatic pathology in relatives of patients with hemochromatosis. J Pathol Bacteriol 1962;84:53-64.
  • Knight JC, McGuire W, Kortok MM, Kwiatkowski D. Accuracy of genotyping of single-nucleotide polymorphisms by PCR-ELISA allele-specific oligonucleotide hybridization typing and by amplification refractory mutation system. Clin Chem 1999; 45:1860-3.
  • Bosserhoff AK, Seegers S, Hellerbrand C, Schölmerich J, Büttner R. Rapid genetic screening for hemochromatosis using automated SSCP-based capillary electrophoresis (SSCP-CE). Biotechniques 1999;26:1106-10.
  • Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I -like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 1996; 13:399-409.
  • Jeffrey GP, Chakrabarti S, Hegele RA, Adams PC. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. Nat Genet 1999; 22:325-6.
  • Camaschella C, Roetto A, CaIi A, De Gobbi M, Garozzo G, Cardia M, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000;25:14-5.
  • Cardia M, D'Ambrosio L, Totaro A, Grifa A, Valentine MA, Piperno A, et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 1997;60:828-32.
  • Papanikolaou G, Politou M, Terpos E, Fourlemadis S, Sakellaropoulos N, Loukopoulos D. Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity. Blood Cells Mol Dis 2000;26:163-8.
  • Datz C, Lalloz MR, Vogel W, Graziadei I, Hackl F, Vautier G, et al. Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis. J Hepatol 1997;27:773-9.
  • Shaheen NJ, Bacon BR, Grimm IS. Clinical characteristics of hereditary hemochromatosis patients who lack the C282Y mutation. Hepatology 1998;28:526-9.
  • Mendier MH, Turlin B, Moirand R, Jouanolle AM, Sapey T, Guyader D, et al. Insulin resistance-associated hepatic iron-overload. Gastroenterology 1999;117:1155-63.
  • Sham RL, Ou CY, Cappuccio J, Braggins C, Dunnigan K, Phatak PD. Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases. Blood Cells Mol Dis 1997;23:314-20.
  • Jouanolle AM, Gandon G, Jezequel P, Blayau M, Campion ML, Yaouanq J, et al. Haemochromatosis and HLA-H Nat Genet 1996;14:251-2.
  • Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996; 110:1107-19.
  • Bell H, Berg JP, Undlien DE, Distante S, Raknerud N, Heier HE, et al. The clinical expression of hemochromatosis in Oslo, Norway. Excessive oral iron intake may lead to secondary hemochromatosis even in HFE C282Y mutation negative subjects. Scand J Gastroenterol 2000;35:1301-7.
  • Cardoso EM, Stal P, Hagen K, Cabeda JM, Esin S, de Sousa M, et al. HFE mutations in patients with hereditary haemochromatosis in Sweden. J Intern Med 1998;243:203-8.
  • Brissot P, Moirand R, Jouanolle AM, Guyader D, Le Gall JY, Deugnier Y, et al. A genotypic study of 217 unrelated proband s diagnosed as 'genetic hemochromatosis' on 'classical' phenotypic criteria. J Hepatol 1999;30:588-93.

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