Detection of C282Y and H63D in the HFE gene

Genet Test. 2000;4(2):115-20. doi: 10.1089/10906570050114803.

Abstract

The gene for hemochromatosis was identified in 1996 and two mutations were found. Homozygosity for one of these, C282Y, is associated with hemochromatosis in a high percentage of patients. Genetic analysis of patient DNA is, therefore, a very useful tool to aid and confirm diagnosis and to screen asymptomatic relatives of patients to identify those at risk of developing this common, easily treated disease.

Publication types

  • Review

MeSH terms

  • DNA Primers
  • HLA Antigens / genetics*
  • Hemochromatosis / genetics
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Membrane Proteins*
  • Mutation*
  • Nucleic Acid Heteroduplexes
  • Polymerase Chain Reaction / methods
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single-Stranded Conformational

Substances

  • DNA Primers
  • HFE protein, human
  • HLA Antigens
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Nucleic Acid Heteroduplexes