Naslov
Reference materials (RMs) for analysis of the human factor II (prothrombin) gene G20210A mutation

Autori
Klein, Christoph L, Márki-Záy, Janos ; Corbisier, Phillipe ; Gancberg, David ; Cooper, Susan ; Gemmati, Donato ; Halbmayer, Walter-Michael ; Kitchen, Steve ; Melegh, Bela ; Neumaier, Michael ; Oldenburg, Johannes ; Oppliger Leibundgut, Elisabeth ; Reitsma, Pieter H ; Rieger, Sandra ; Schimmel, Heinz G ; Spannagl, Michael ; Tordai Attila, Tosetto, Alberto ; Visvikis, Sophie ; Zadro, Renata ; Mannhalter, Christine

Izvornik
Clinical chemistry and laboratory medicine (1434-6621) 43 (2005); 862-868

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
metrological traceability; molecular diagnostic testing; mutation; polymerase chain reaction

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA