Comparison of three methods for genotyping of prothrombotic polymorphisms

Clin Exp Med. 2010 Dec;10(4):269-72. doi: 10.1007/s10238-010-0096-3. Epub 2010 Apr 29.

Abstract

Several methods have been developed to detect common prothrombotic mutations, including factor V Leiden (G1691), prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677C. In this study, we compared the accuracy of three different molecular techniques, i.e.: (1) restriction enzyme digestion (RFLP), (2) real time with hybridization probes and final melting curve (Fluorescence Resonance Energy Transfer, FRET), and (3) real time with hydrolysis probes (TaqMan(®)). Sequencing was used as the reference standard. Our data showed that RFLPs analysis for the detection of prothrombotic mutations, albeit easy-to-perform, had a limited reliability for assessing correct genotypes. FRET analysis displayed higher resolution than RFLPs. Additionally, FRET analysis was faster and less tedious than sequencing.

Publication types

  • Comparative Study
  • Evaluation Study

MeSH terms

  • Adult
  • Female
  • Fluorescence Resonance Energy Transfer
  • Genetic Testing / methods*
  • Humans
  • Male
  • Nucleic Acid Hybridization / methods
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Prothrombin / genetics*
  • Sequence Analysis, DNA

Substances

  • Prothrombin