A rapid PCR-SSP assay for the hemochromatosis-associated Tyr250stop mutation in the TFR2 gene

Academic Article


  • Several genes associated with hemochromatosis and primary iron overload have been identified. Mutations in the HFE gene have been detected in 60-100% of hemochromatosis patients of northern, central, and western European descent, although the frequencies of these mutations vary among racial and ethnic groups. Recently, a mutation in the gene encoding transferrin receptor-2 (exon 6, nucleotide 750 C → G; Y250X) was detected by a PCR-restriction fragment length polymorphism (RFLP) method in Sicilians with hemochromatosis. We describe a modification of the original assay in which the sequence-specific priming PCR assay does not require the use of restriction endonuclease. The modified assay is robust and cost-efficient, and may be more useful for large-scale population studies because it can be performed rapidly on DNA extracted from buccal swabs.
  • Authors

    Digital Object Identifier (doi)

    Author List

  • Rivers CA; Barton JC; Acton RT
  • Start Page

  • 131
  • End Page

  • 134
  • Volume

  • 5
  • Issue

  • 2