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Reference materials (RMs) for analysis of the human factor II (prothrombin) gene G20210A mutation
- Source :
- Clinical chemistry and laboratory medicine, 43(8), 862-868. Walter de Gruyter GmbH, Klein, Christoph L.; Márki-Zay, János; Corbisier, Philippe; Gancberg, David; Cooper, Susan; Gemmati, Donato; Halbmayer, Walter-Michael; Kitchen, Steve; Melegh, Béla; Neumaier, Michael; Oldenburg, Johannes; Oppliger Leibundgut, Elisabeth; Reitsma, Pieter H.; Rieger, Sandra; Schimmel, Heinz G.; Spannagl, Michael; Tordai, Attilia; Tosetto, Alberto; Visvikis, Sophie; Zadro, Renata; ... (2005). Reference materials (RMs) for analysis of the human factor II (prothrombin) gene G20210A mutation. Clinical chemistry and laboratory medicine, 43(8), pp. 862-868. Walter de Gruyter 10.1515/CCLM.2005.145
- Publication Year :
- 2005
- Publisher :
- Walter de Gruyter, 2005.
-
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 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.
- Subjects :
- Heterozygous genotype
Factor ii prothrombin
Clinical Biochemistry
Mutant
DNA Mutational Analysis
Molecular Sequence Data
610 Medicine & health
Biology
law.invention
Plasmid
law
Humans
Point Mutation
Allele
Gene
Polymerase chain reaction
DNA Primers
Genetics
Base Sequence
Biochemistry (medical)
General Medicine
DNA
Reference Standards
Joint research
Prothrombin
Plasmids
Subjects
Details
- Language :
- English
- ISSN :
- 14346621
- Database :
- OpenAIRE
- Journal :
- Clinical chemistry and laboratory medicine, 43(8), 862-868. Walter de Gruyter GmbH, Klein, Christoph L.; Márki-Zay, János; Corbisier, Philippe; Gancberg, David; Cooper, Susan; Gemmati, Donato; Halbmayer, Walter-Michael; Kitchen, Steve; Melegh, Béla; Neumaier, Michael; Oldenburg, Johannes; Oppliger Leibundgut, Elisabeth; Reitsma, Pieter H.; Rieger, Sandra; Schimmel, Heinz G.; Spannagl, Michael; Tordai, Attilia; Tosetto, Alberto; Visvikis, Sophie; Zadro, Renata; ... (2005). Reference materials (RMs) for analysis of the human factor II (prothrombin) gene G20210A mutation. Clinical chemistry and laboratory medicine, 43(8), pp. 862-868. Walter de Gruyter 10.1515/CCLM.2005.145 <http://dx.doi.org/10.1515/CCLM.2005.145>
- Accession number :
- edsair.doi.dedup.....039afe49b5225ed124bed67accc16d64
- Full Text :
- https://doi.org/10.7892/boris.115980