Detection of Genomic Polymorphisms Associated with Venous Thrombosis Using the Invader Biplex Assay
| Autor: | Marlies Ledford, Kelly A. Joyner, Martin J. Hessner, Jean Amos, Robert N. Fontaine, Eduardo C. Lau, Madhumita Patnaik, M.T.R. Subbiah, Thomas M. Williams, Bailing Zhang, Cynthia Moehlenkamp, Jeffrey S. Dlott |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2004 |
| Předmět: |
Genotype
DNA Mutational Analysis Polymerase Chain Reaction Polymorphism Single Nucleotide Sensitivity and Specificity Mass Spectrometry Pathology and Forensic Medicine law.invention law Plasminogen Activator Inhibitor 1 Factor V Leiden medicine Humans Genotyping Polymerase chain reaction Methylenetetrahydrofolate Reductase (NADPH2) Fluorescent Dyes Genetics Venous Thrombosis biology Factor V Reproducibility of Results DNA biology.organism_classification medicine.disease Molecular biology Biplex Spectrometry Fluorescence Methylenetetrahydrofolate reductase biology.protein Molecular Medicine Prothrombin Restriction fragment length polymorphism Polymorphism Restriction Fragment Length Regular Articles |
| Popis: | A multi-site study to assess the accuracy and performance of the biplex Invader assay for genotyping five polymorphisms implicated in venous thrombosis was carried out in seven laboratories. Genotyping results obtained using the Invader biplex assay were compared to those obtained from a reference method, either allele-specific polymerase chain reaction (AS-PCR), restriction fragment length polymorphism (PCR-RFLP) or PCR-mass spectrometry. Results were compared for five loci associated with venous thrombosis: Factor V Leiden, Factor II (prothrombin) G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, and plasminogen activator inhibitor (PAI-1) 4G/5G. Of a total of 1448 genotypes tested in this study, there were 22 samples that gave different results between the Invader biplex assay and the PCR-based methods. On further testing, 21 were determined to be correctly genotyped by the Invader Assay and only a single discrepancy was resolved in favor of the PCR-based assays. The compiled results demonstrate that the Invader biplex assay provides results more than 99.9% concordant with standard PCR-based techniques and is a rapid and highly accurate alternative to target amplification-based methods. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|