A rapid non-invasive method for the detection of the haemochromatosis C282Y mutation.
We describe the rapid single-step detection, by mutagenically separated polymerase chain reaction (MS-PCR), of the HLE C282Y mutation, for which > 90% of haemochromatosis patients in the U.K. are homozygous. In addition to using purified DNA as a template, whole blood and lysed buccal cell extracts from mouthwash samples can be used. Therefore sample collection may be non-invasive and purification steps kept to a minimum.
Merryweather-Clarke
A T
AT
MRC Unit of Molecular Haematology, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford.
Liu
Y T
YT
Shearman
J D
JD
Pointon
J J
JJ
Robson
K J
KJ
D005821:Genetic Techniques; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009067:Mouthwashes; D009154:Mutation; D016133:Polymerase Chain Reaction
D009067:Mouthwashes