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Klein, Christoph L.; Marki-Zay, János; Corbisier, Philippe; Gancberg, David; Cooper, S.; Gemmati, Donato; Halbmayer, Walter-Michael; Kitchen, Steve; Melegh, Béla; Neumaier, Michael; Oldenburg, Johannes; Opplinger Leibundgut, Elisabeth; Reitsma, Pieter H.; Rieger, Sandra; Schimmel, Heinz G.; Spannagl, Michael; Tordai, Attilia; Tosetto, Alberto; Visvikis, Sophie; Zadro, Renata; Mannhalter, Christine (2005): Reference materials (RMs) for analysis of the human factor II (prothrombin) gene G20210A mutation. In: Clinical Chemistry and Laboratory Medicine, Vol. 43, No. 8: pp. 862-868


The Scientific Committee of Molecular Biology Techniques (C-MbT) in Clinical Chemistry of the IFCC has initiated a joint project in co-operation with the European Commission, Joint Research Centre, Institute of Reference Materials and Measurements to develop and produce plasmid-type reference materials (RMs), for the analysis of the human prothrombin gene G20210A mutation. Although DNA tests have a high impact on clinical decision-making and the number of tests performed in diagnostic laboratories is high, issues of quality and quality assurance exist, and currently only a few RMs for clinical genetic testing are available. A gene fragment chosen was produced that spans all primer annealing sites published to date. Both the wild-type and mutant alleles of this gene fragment were cloned into a pUC18 plasmid and two plasmid RMs were produced. In addition, a mixture of both plasmids was produced to mimic the heterozygous genotype. The present study describes the performance of these reference materials in a commutability study, in which they were tested by nine different methods in 13 expert laboratories.. This series of plasmid RMs are, to the best of our knowledge, the first plasmid-type clinical genetic RMs introduced worldwide.