A rapid non‐invasive method for the detection of the haemochromatosis C282Y mutation

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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.