title: A rapid non-invasive method for the detection of the haemochromatosis C282Y mutation.
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.
authors.affiliation: MRC Unit of Molecular Haematology, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford.
authors.forename: A T
authors.initials: AT
authors.lastname: Merryweather-Clarke
authors.forename: Y T
authors.initials: YT
authors.lastname: Liu
authors.forename: J D
authors.initials: JD
authors.lastname: Shearman
authors.forename: J J
authors.initials: JJ
authors.lastname: Pointon
authors.forename: K J
authors.initials: KJ
authors.lastname: Robson
mesh_terms: D005821:Genetic Techniques; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009067:Mouthwashes; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D009067:Mouthwashes