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|Title:||Reference Materials (RMs) for the Analysis of the Human Factor II (prothrombin) Gene G20210A Mutation|
|Authors:||KLEIN CHRISTOPH; MARKI-ZAY Janos; CORBISIER PHILIPPE; GANCBERG DAVID; COOPER Susan; GEMMATI Donato; HALBMAYER Walter-Michael; KITCHEN Steve; MELEGH Bela; NEUMAIER Michael; OLDENBURG Johannes; OPPLIGER LEIBUNDGUT Elisabeth; REITSMA Pieter; RIEGER Sandra; SCHIMMEL HEINZ; SPANNAGL Michael; TORDAI Attila; TOSETTO Alberto; VISVIKIS Sophie; MANNHALTER Christine|
|Other Contributors:||ZADRO Renata|
|Citation:||CLINICAL CHEMISTRY AND LABORATORY MEDICINE vol. 43 no. 8 p. 862-868|
|Publisher:||WALTER DE GRUYTER & CO|
|Type:||Articles in Journals|
|Abstract:||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 Measurments to develop and produce plasmidic-type reference materials (RMs) for the analysis of the human prothrombin gene G20210A mutation. Although DNA tests have a high impact on the 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 until today. Both, the wildtype and the mutant allele of this gene fragment were cloned into a pUC18 plasmid and two plasmidic RMs were produced. In addition a mixture of both plasmids was produced mimicking the heterozygous genotype. The present study describes the performance and results of these reference materials in commutability study, when they were tested by 9 different methods in 13 expert laboratories. This series of plasmidic RMs are to the best of our knowledge the world-wide first plasmidic-type clinical genetic RMs introduced.|
|JRC Institute:||Institute for Reference Materials and Measurements|
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