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J Biomol Tech. 2000 June; 11(2): 67–73.
PMCID: PMC2291624

Detection of hemochromatosis through the analysis of single- nucleotide extension products by capillary electrophoresis

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Selected References

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  • Powell LW, George DK, McDonnell SM, Kowdley KV. Diagnosis of hemochromatosis. Ann Intern Med. 1998 Dec 1;129(11):925–931. [PubMed]
  • Baer DM, Simons JL, Staples RL, Rumore GJ, Morton CJ. Hemochromatosis screening in asymptomatic ambulatory men 30 years of age and older. Am J Med. 1995 May;98(5):464–468. [PubMed]
  • Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R, Jr, Ellis MC, Fullan A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996 Aug;13(4):399–408. [PubMed]
  • Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, Adams PC, Barton JC, Beutler E, Brittenham G, Buchanan A, et al. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA. 1998 Jul 8;280(2):172–178. [PubMed]
  • A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium. Gut. 1997 Dec;41(6):841–844. [PMC free article] [PubMed]
  • Fairbanks VF, Brandhagen DJ, Thibodeau SN, Snow K, Wollan PC. H63D is an haemochromatosis associated allele. Gut. 1998 Sep;43(3):441–442. [PMC free article] [PubMed]
  • Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ. Global prevalence of putative haemochromatosis mutations. J Med Genet. 1997 Apr;34(4):275–278. [PMC free article] [PubMed]
  • Stott MK, Fellowes AP, Upton JD, Burt MJ, George PM. Simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations. Clin Chem. 1999 Mar;45(3):426–428. [PubMed]
  • Hoogendoorn B, Owen MJ, Oefner PJ, Williams N, Austin J, O'Donovan MC. Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography. Hum Genet. 1999 Jan;104(1):89–93. [PubMed]
  • Piggee CA, Muth J, Carrilho E, Karger BL. Capillary electrophoresis for the detection of known point mutations by single-nucleotide primer extension and laser-induced fluorescence detection. J Chromatogr A. 1997 Sep 26;781(1-2):367–375. [PubMed]
  • Higgins GS, Little DP, Köster H. Competitive oligonucleotide single-base extension combined with mass spectrometric detection for mutation screening. Biotechniques. 1997 Oct;23(4):710–714. [PubMed]
  • Guttridge MG, Thompson J, Worwood M, Darke C. Rapid detection of genetic mutations associated with haemochromatosis. Vox Sang. 1998;75(3):253–256. [PubMed]
  • Smillie D. A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary haemochromatosis. Mol Pathol. 1997 Oct;50(5):275–276. [PMC free article] [PubMed]
  • Baty D, Terron Kwiatkowski A, Mechan D, Harris A, Pippard MJ, Goudie D. Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis. J Clin Pathol. 1998 Jan;51(1):73–74. [PMC free article] [PubMed]
  • Jackson HA, Bowen DJ, Worwood M. Rapid genetic screening for haemochromatosis using heteroduplex technology. Br J Haematol. 1997 Sep;98(4):856–859. [PubMed]
  • Wenz HM, Baumhueter S, Ramachandra S, Worwood M. A rapid automated SSCP multiplex capillary electrophoresis protocol that detects the two common mutations implicated in hereditary hemochromatosis (HH). Hum Genet. 1999 Jan;104(1):29–35. [PubMed]
  • Belgrader P, Del Rio SA, Turner KA, Marino MA, Weaver KR, Williams PE. Automated DNA purification and amplification from blood-stained cards using a robotic workstation. Biotechniques. 1995 Sep;19(3):426–432. [PubMed]

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