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

Clin Chem Lab Med. 2005;43(8):862-8. doi: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA / analysis
  • DNA / genetics
  • DNA Mutational Analysis / methods
  • DNA Primers / genetics
  • Humans
  • Molecular Sequence Data
  • Plasmids / genetics
  • Point Mutation*
  • Prothrombin / genetics*
  • Prothrombin / standards*
  • Reference Standards

Substances

  • DNA Primers
  • Prothrombin
  • DNA