17 research outputs found
6 A novel StripAssay for the detection of cystic fibrosis mutations in the Turkish population
The performance of a commercial radioligand binding assay for the epidermal growth factor receptor is comparable to the EORTC standard assay
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Simultaneous detection of common cystic fibrosis mutations by reverse-hybridization teststrips
Risk for Early Pregnancy Loss by Factor XIII Val34Leu: The Impact of Fibrinogen Concentration
Association of endothelial protein C receptor haplotypes, factor V Leiden and recurrent first trimester pregnancy loss
Prevalence of HFE mutations in upper Northern Italy: study of 1132 unrelated blood donors
Molecular diagnosis of hereditary hemochromatosis: Application of a newly-developed reverse-hybridization assay in the South African population
A 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.Articl