Combined factor V leiden (G1691A) and prothrombin (G20210A) genotyping by multiplex real-time polymerase chain reaction using fluorescent resonance energy transfer hybridization probes on the Rotor-Gene 2000

Blood Coagul Fibrinolysis. 2003 Jun;14(4):421-4. doi: 10.1097/00001721-200306000-00016.

Abstract

Several methods have been developed to detect common single point mutations in the factor V and prothrobin genes that are risk factors for thrombophilia. Most are based on PCR followed by restriction enzyme digestion and electrophoresis (RFLP), but gel analysis has certain limitations, and alternative detection methods, including real-time PCR, have therefore been developed. In this study we developed and evaluated a combined factor V Leiden and prothrombin (G20210A) genotyping method based on multiplex real-time PCR with fluorescent resonance energy transfer (FRET) hybridization probes on the Rotor-Gene 2000. Two hundred subjects were screened for the two mutations. The FRET assay clearly discriminated among wild-type, homozygous and heterozygous status for the two mutations, and the results were in full agreement with those of the RFLP assay. This robust FRET probe-based assay also has a higher throughput capacity than conventional methods, handling up to 72 samples in 90 min.

MeSH terms

  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis / methods
  • DNA Probes / chemistry
  • DNA Probes / genetics
  • Factor V / genetics*
  • Fluorescence Resonance Energy Transfer / methods*
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Point Mutation
  • Polymorphism, Restriction Fragment Length
  • Prothrombin / genetics*
  • Reproducibility of Results
  • Reverse Transcriptase Polymerase Chain Reaction / methods*
  • Sensitivity and Specificity
  • Temperature

Substances

  • DNA Probes
  • factor V Leiden
  • Factor V
  • Prothrombin
  • DNA