Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis

D. Baty*, A. Terron Kwiatkowski, D. Mechan, A. Harris, M. J. Pippard, D. Goudie

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

28 Scopus citations

Abstract

Genetic testing for hereditary haemochromatosis is likely to be a significant workload for diagnostic laboratories. The C282Y and H63D mutations in the HFE gene associated with hereditary haemochromatosis have previously been detected using a number of methods including alterations in the restriction digest pattern of polymerase chain reaction (PCR) amplified products. An amplification refractory mutation system (ARMS) has been developed that will simultaneously detect both hereditary haemochromatosis mutations. Comparison of the results obtained from the analysis of 46 samples referred for hereditary haemochromatosis testing showed no discrepancies between ARMS and restriction enzyme digestion. Furthermore, consistent results were obtained by ARMS from both blood and buccal mouthwash samples. The ARMS test is quicker and less expensive in terms of consumables and scientist time than restriction enzyme analysis, and is therefore suited to the routine diagnostic analysis of hereditary haemochromatosis.

Original languageEnglish (US)
Pages (from-to)73-74
Number of pages2
JournalJournal of Clinical Pathology
Volume51
Issue number1
DOIs
StatePublished - 1998

Keywords

  • C282Y mutation
  • H63D mutadon
  • Hereditary haemochromatosis
  • Multiplex ARMS analysis

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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