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Rapid detection of genetic mutations associated with haemochromatosis
M G Guttridge1, J Thompson, M Worwood
1Regional Tissue Typing Laboratory, Welsh Blood Service, Pontyclun, UK. mguttridge@wbmdr.demon.co.uk
Background And Objectives:
The purpose of this study was to establish a rapid method suitable for large-scale population screening, including blood donors, for the detection of two genetic mutations at codons 63 and 282 on the HFE gene that are associated with haemochromatosis.
Materials And Methods:
A method using the polymerase chain reaction with sequence-specific primers (PCR-SSP) was designed and tested using a panel of 185 individuals previously typed for HFE mutations by PCR-RFLP.
Results:
The PCR-SSP method detected the two mutations showing complete agreement with the genotypes obtained by PCR-RFLP. Three HFE alleles, termed HFE-1, -2, and -3, were identified.
Conclusions:
This PCR-SSP method allows efficient HFE genotyping for large numbers of individuals.