| Certification of reference materials for detection of the human prothrombin gene G20210A sequence variant. | |
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MedLine Citation:
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PMID: 18298350 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: There is a need for reference materials (RMs) in the field of genetic testing for verification of test results obtained in patients and probands. For the frequent genetic variation G20210A in the prothrombin gene, it has been shown that purified plasmids containing the gene fragment harbouring the mutation constitute good candidate RMs. METHODS: Plasmid-type RMs were characterised for homogeneity, stability, sequence identity and fitness for purpose. Their certification required the use of different real-time PCR methods for genotyping and quantification of the plasmid copy number. RESULTS: Homogeneity, stability and fitness for the purpose of the plasmids could be demonstrated. The long-term stability (up to 24 months) of the materials was confirmed by highly sensitive and specific quantitative real-time PCR methods. CONCLUSIONS: New types of certified RMs (CRMs) for genetic testing of the human prothrombin gene G20210A sequence variant are available. Their fitness for purpose was demonstrated and no evidence was found that they would not work with other methods as long as these are targeting the whole or parts of the prothrombin gene fragment inserted into the plasmids. The described CRMs support the efforts of the international community in development, validation and harmonisation of tests for molecular genetic testing. |
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Authors:
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David Gancberg; Philippe Corbisier; Nele Meeus; Janos Marki-Zay; Christine Mannhalter; Heinz Schimmel |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Clinical chemistry and laboratory medicine : CCLM / FESCC Volume: 46 ISSN: 1434-6621 ISO Abbreviation: Clin. Chem. Lab. Med. Publication Date: 2008 |
Date Detail:
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Created Date: 2008-07-09 Completed Date: 2008-07-31 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 9806306 Medline TA: Clin Chem Lab Med Country: Germany |
Other Details:
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Languages: eng Pagination: 463-9 Citation Subset: IM |
Affiliation:
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European Commission, Joint Research Centre, Institute for Reference Materials and Measurements, Geel, Belgium. david.gancberg@ec.europa.eu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Alleles Blood Chemical Analysis / methods, standards* Calibration Genetic Variation Genotype Humans Models, Genetic Organic Chemicals / pharmacology Plasmids / metabolism Polymerase Chain Reaction Prothrombin / genetics* Reference Standards Reference Values Reverse Transcriptase Polymerase Chain Reaction Temperature |
| Chemical | |
Reg. No./Substance:
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0/Organic Chemicals; 0/PicoGreen; 9001-26-7/Prothrombin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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