Rapid detection of genetic mutations associated with haemochromatosis.
OBJECTIVE
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.


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.
Guttridge
M G
MG
Regional Tissue Typing Laboratory, Welsh Blood Service, Pontyclun, UK. mguttridge@wbmdr.demon.co.uk
Thompson
J
J
Worwood
M
M
Darke
C
C
D000483:Alleles; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D016037:Single-Blind Method; D013997:Time Factors