Rapid genetic screening for haemochromatosis using heteroduplex technology

Br J Haematol. 1997 Sep;98(4):856-9. doi: 10.1046/j.1365-2141.1997.3193136.x.


The recently described association between haemochromatosis and mutations in the HFE or HLA-'H' gene has prompted the need for a simple and rapid genetic test capable of detecting multiple mutations simultaneously. Heteroduplex analysis, a new diagnostic technique, fulfills such criteria and we have investigated the potential for the detection of the Cys282Tyr mutation. 100 subjects were genotyped using the heteroduplex approach. The results showed clear distinction between individuals who did not carry the mutation, individuals who were heterozygous for the mutation and homozygous individuals. Heteroduplex results obtained by both silver staining and capillary electrophoresis showed 100% concordance with those obtained by restriction digestion of PCR product.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / analysis
  • Electrophoresis, Polyacrylamide Gel
  • Genetic Testing / methods*
  • Hemochromatosis / diagnosis*
  • Humans
  • Mutation*
  • Nucleic Acid Heteroduplexes / analysis*


  • Nucleic Acid Heteroduplexes
  • DNA