A rapid non-invasive method for the detection of the haemochromatosis C282Y mutation
| Autor: | J. D. Shearman, Yan-Tat Liu, Jennifer J. Pointon, Alison T. Merryweather-Clarke, Kathryn J. H. Robson |
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| Rok vydání: | 1997 |
| Předmět: |
Lysis
Mouthwashes Hematology Buccal administration Biology medicine.disease Polymerase Chain Reaction Molecular biology law.invention chemistry.chemical_compound Genetic Techniques chemistry law Mutation Mutation (genetic algorithm) medicine Humans Hemochromatosis Sample collection Polymerase chain reaction DNA Whole blood |
| Zdroj: | British Journal of Haematology. 99:460-463 |
| ISSN: | 1365-2141 0007-1048 |
| DOI: | 10.1046/j.1365-2141.1997.4193224.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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