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Molecular diagnosis of hereditary hemochromatosis: Application of a newly-developed reverse-hybridization assay in the South African population

dc.contributor.authorKotze M.J.
dc.contributor.authorde Villiers J.N.P.
dc.contributor.authorBouwens C.S.H.
dc.contributor.authorWarnich L.
dc.contributor.authorZaahl M.G.
dc.contributor.authorvan der Merwe S.
dc.contributor.authorOberkanins C.
dc.date.accessioned2011-05-15T16:16:05Z
dc.date.available2011-05-15T16:16:05Z
dc.date.issued2004
dc.identifier.citationClinical Genetics
dc.identifier.citation65
dc.identifier.citation4
dc.identifier.issn00099163
dc.identifier.other10.1111/j.1399-0004.2004.00222.x
dc.identifier.urihttp://hdl.handle.net/10019.1/13627
dc.description.abstractA recently developed strip-assay for hemochromatosis provides a rapid method for simultaneous detection of multiple mutations, which among others includes the HFE gene mutations V53M, V59M, H63D, H63H, S65C, Q127H, E168Q, and C282Y, previously detected in the general South African population using gel-based mutation-screening methods. The objective of the study was to determine the frequency of the relatively rare mutations in samples selected for altered iron parameters or a family history of hereditary hemochromatosis (HH) as part of the validation process of the assay for routine diagnostic purposes. The study population consisted of 451 individuals previously screened for mutations C282Y and H63D by restriction enzyme analysis in order to confirm or possibly exclude a diagnosis of HH. These individuals were subjected to mutation screening using the commercially available hemochromatosis strip-assay. Previous positive results for mutations C282Y and H63D in 233 individuals confirmed the accuracy of the reverse-hybridization assay. Mutation S65C was detected in 13 Caucasians, including three compound heterozygotes. These constituted 2% (13/600) of the chromosomes without mutations C282Y or H63D. The African-specific HFE mutation V53M was detected in one out of 11 (9%) African subjects screened. Mutation E168Q was detected in a single Caucasian individual together with mutation H63D. Our data demonstrate the value of the strip-based technology in providing a rapid and reliable comprehensive test for simultaneous analysis of multiple mutations. © Blackwell Munksgaard, 2004.
dc.subjectanalytic method
dc.subjectarticle
dc.subjectCaucasian
dc.subjectchromosome mutation
dc.subjectcontrolled study
dc.subjectdiagnostic accuracy
dc.subjectgene identification
dc.subjectgenetic screening
dc.subjectgenotype
dc.subjecthemochromatosis
dc.subjectheterozygosity
dc.subjecthuman
dc.subjecthybridization
dc.subjectmajor clinical study
dc.subjectpopulation research
dc.subjectpriority journal
dc.subjectrestriction mapping
dc.subjectSouth Africa
dc.subjectvalidation process
dc.subjectDNA Mutational Analysis
dc.subjectGene Frequency
dc.subjectGenetic Screening
dc.subjectGenotype
dc.subjectHemochromatosis
dc.subjectHistocompatibility Antigens Class I
dc.subjectHumans
dc.subjectIron Overload
dc.subjectMembrane Proteins
dc.subjectMolecular Diagnostic Techniques
dc.subjectNucleic Acid Hybridization
dc.subjectPoint Mutation
dc.subjectReagent Kits, Diagnostic
dc.subjectReproducibility of Results
dc.subjectSouth Africa
dc.titleMolecular diagnosis of hereditary hemochromatosis: Application of a newly-developed reverse-hybridization assay in the South African population
dc.typeArticle
dc.description.versionArticle


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