A highly reproducible and economically competitive SNP analysis of several well characterized human mutations

Clin Lab. 2004;50(5-6):305-16.


During the last years several genetic markers have appeared which were extensively studied for their clinical consequences and impact. Therefore, we developed 14 new genetic tests using the TaqMan technology. The new test systems detect the alpha1-antitrypsin, ACE, apolipoprotein B-100, apolipoprotein E, factor V Leiden, prothrombin, HFE, MTHFR, COL1A1, VDR and HLA-B27 mutations. These new kits were compared to the established endonuclease restriction digestion and flow cytometry, respectively. The results showed, that the allelic discrimination assays (TaqMan method) were in 100% concordance with the formerly used digestion method. Flow cytometry revealed a lower specificity in contrast to the TaqMan PCR system. Thus, it could be demonstrated that the new TaqMan assays are robust, rapid and automated methods for high throughput applications which avoid time consuming (and therefore expensive) and difficult post-PCR steps.

MeSH terms

  • Apolipoproteins B / genetics
  • Apolipoproteins E / genetics
  • Collagen Type I / genetics
  • DNA Mutational Analysis / economics
  • DNA Mutational Analysis / methods*
  • Factor V / genetics
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics
  • Humans
  • Membrane Proteins / genetics
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Mutation / genetics*
  • Polymorphism, Single Nucleotide*
  • Prothrombin / genetics
  • Receptors, Calcitriol / genetics


  • Apolipoproteins B
  • Apolipoproteins E
  • Collagen Type I
  • Genetic Markers
  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Receptors, Calcitriol
  • collagen type I, alpha 1 chain
  • factor V Leiden
  • Factor V
  • Prothrombin
  • Methylenetetrahydrofolate Reductase (NADPH2)