Rapid detection of the factor XIII Val34Leu (163 G-->T) polymorphism by real-time PCR using fluorescence resonance energy transfer detection and melting curve analysis

Clin Chem Lab Med. 2004;42(8):877-9. doi: 10.1515/CCLM.2004.142.

Abstract

The Val34Leu polymorphism in the A subunit of blood coagulation factor XIII (FXIII-A) is located in the activation peptide, just three amino acids upstream of the thrombin cleavage site. The Val-->Leu replacement accelerates the rate of the proteolytic activation of FXIII and it seems to provide protection against myocardial infarction. Methods available for the assessment of the FXIII-A Val34Leu polymorphism are rather time-consuming, laborious and not easily applicable for large-scale studies. In this study a new method based on real-time PCR with fluorescence resonance energy transfer (FRET) detection and melting curve analysis was developed. The rapid, simple method was adapted to the widely used real-time PCR instrument, LightCycler (Roche Diagnostics). The results showed 100% coincidence with those obtained by the traditional PCR-restriction fragment length polymorphism (RFLP) assay and fluorescent DNA sequencing. Using this method, an allele frequency of 24.2% was obtained (n=113), which well agrees with the allele frequency obtained by PCR-RFLP on a different group of the same ethnic Hungarian population (25.9%).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • DNA / chemistry
  • DNA / genetics*
  • Factor XIII / analysis*
  • Factor XIII / chemistry
  • Factor XIII / genetics*
  • Fluorescence Resonance Energy Transfer / methods*
  • Gene Frequency
  • Humans
  • Hungary
  • Nucleic Acid Denaturation
  • Polymerase Chain Reaction / instrumentation
  • Polymerase Chain Reaction / methods*
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Temperature
  • Time Factors

Substances

  • DNA
  • Factor XIII