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A rapid non-invasive method for the detection of the haemochromatosis C282Y mutation
A T Merryweather-Clarke1, Y T Liu, J D Shearman
1MRC Unit of Molecular Haematology, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford.
British Journal of Haematology
|December 31, 1997
Abstract:
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.