High-speed detection of the G894T polymorphism in exon 7 of the eNOS gene by real-time fluorescence PCR with the Light-Cycler

Biochem Genet. 2004 Apr;42(3-4):121-7. doi: 10.1023/b:bigi.0000020467.26527.de.

Abstract

In endothelial cells nitric oxide (NO) is synthesized by endothelial-nitric oxide synthase (e-NOS), constitutively expressed and encoded by a 26-exon gene, located on chromosome 7q35-36. The prevalence of the T rare variant of the G894T polymorphism in exon 7 of the e-NOS gene (Glu-->Asp amino acid substitution) has been reported to be significantly higher in patients with coronary spasm and coronary artery disease. To date G894T polymorphism detection is performed by PCR-RFLP assay. In order to establish a high-speed genotyping method, we have taken advantage of the Light Cycler instrument, a thermal cycler that combines rapid-cycle DNA amplification with a real-time fluorescence monitoring. This technology is based on hybridization of the adjacent fluorescently labeled probes with PCR products. This methodology is considered more accurate and less time-consuming than conventional PCR-RFLP assay. To validate this technique we genotyped 270 healthy subjects. The results were consistent with those obtained from PCR-RFLP assay.

Publication types

  • Validation Study

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Aspartic Acid / metabolism
  • Endothelium, Vascular / enzymology*
  • Exons*
  • Fluorescence
  • Gene Frequency
  • Genetic Testing / methods*
  • Humans
  • Nitric Oxide Synthase / genetics*
  • Polymerase Chain Reaction*
  • Polymorphism, Genetic*
  • Reproducibility of Results
  • Time Factors

Substances

  • Aspartic Acid
  • Nitric Oxide Synthase