A RAPID NONINVASIVE METHOD FOR THE DETECTION OF THE HEMOCHROMATOSIS C282Y MUTATION

Authors
MERRYWEATHERCLARKE AT LIU YT SHEARMAN JD POINTON JJ ROBSON KJH
Citation
At. Merryweatherclarke et al., A RAPID NONINVASIVE METHOD FOR THE DETECTION OF THE HEMOCHROMATOSIS C282Y MUTATION, British Journal of Haematology, 99(2), 1997, pp. 460-463
Citations number
16
Categorie Soggetti
Hematology
Journal title
British Journal of Haematology → ACNP
ISSN journal
00071048
Volume
99
Issue
2
Year of publication
1997
Pages
460 - 463
Database
ISI
SICI code
0007-1048(1997)99:2<460:ARNMFT>2.0.ZU;2-S
Abstract
We describe the rapid single-step detection, by mutagenically separate d polymerase chain reaction (MS-PCR), of the HLE C282Y mutation, for w hich >90% of haemochromatosis patients in the U.K. are homozygous. In addition to using purified DNA as a template, whole blood and lysed bu ccal cell extracts from mouthwash samples can be used. Therefore sampl e collection may be non-invasive and purification steps kept to a mini mum.