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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

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IMPACT FACTOR 2016: 3.432

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1437-4331
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Volume 43, Issue 8 (Aug 2005)

Issues

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

Christoph L. Klein
  • Institute for Reference Materials and Measurements, European Commission, Joint Research Centre, Geel, Belgium
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/ János Márki-Zay
  • Institute for Reference Materials and Measurements, European Commission, Joint Research Centre, Geel, Belgium
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/ Philippe Corbisier
  • Institute for Reference Materials and Measurements, European Commission, Joint Research Centre, Geel, Belgium
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/ David Gancberg
  • Institute for Reference Materials and Measurements, European Commission, Joint Research Centre, Geel, Belgium
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/ Susan Cooper
  • Department of Coagulation, Sheffield Haemophilia and Thrombosis Centre, Royal Hallamshire Hospital, Sheffield, United Kingdom of Great Britain and Northern Ireland
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/ Donato Gemmati / Walter-Michael Halbmayer / Steve Kitchen
  • Department of Coagulation, Sheffield Haemophilia and Thrombosis Centre, Royal Hallamshire Hospital, Sheffield, United Kingdom of Great Britain and Northern Ireland
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/ Béla Melegh / Michael Neumaier
  • Institute for Clinical Chemistry, University Hospital Mannheim, University of Heidelberg, Germany
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/ Johannes Oldenburg
  • Institute of Transfusion Medicine and Immunohaematology, DRK Blood Donor Service Baden-Wurttemberg/Hessen, Frankfurt am Main, Germany
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/ Elisabeth Oppliger Leibundgut
  • Laboratory of Molecular Diagnostics, Division of Hematology, University Hospital of Berne, Berne, Switzerland
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/ Pieter H. Reitsma
  • Laboratory for Experimental Internal Medicine, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
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/ Sandra Rieger
  • Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University Vienna, Vienna, Austria
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/ Heinz G. Schimmel
  • Institute for Reference Materials and Measurements, European Commission, Joint Research Centre, Geel, Belgium
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/ Michael Spannagl / Attilia Tordai
  • Laboratory of Molecular Genetics, National Medical Centre, Institute of Hematology and Immunology, Budapest, Hungary
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/ Alberto Tosetto / Sophie Visvikis / Renata Zadro
  • Clinical Institute of Laboratory Diagnosis, University School of Medicine and Clinical Hospital Centre Zagreb, Zagreb, Croatia
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/ Christine Mannhalter
  • Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University Vienna, Vienna, Austria
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Published Online: 2011-09-21 | DOI: https://doi.org/10.1515/CCLM.2005.145

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.

Keywords: metrological traceability; molecular diagnostic testing; mutation; polymerase chain reaction; prothrombin; recombinant DNA; reference standards

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About the article

Corresponding author: Christoph L. Klein, European Commission, Joint Research Centre, Institute for Reference Materials and Measurements, Retieseweg 111, 2440 Geel, Belgium Phone: +32-14-571634, Fax: +32-14-571548,


Received: 2005-03-07

Accepted: 2005-06-17

Published Online: 2011-09-21

Published in Print: 2005-08-01


Citation Information: Clinical Chemistry and Laboratory Medicine (CCLM), ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2005.145.

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