Exo-proofreading, a versatile SNP scoring technology

Genome Res. 2003 May;13(5):925-31. doi: 10.1101/gr.939903. Epub 2003 Apr 14.

Abstract

We report the validation of a new assay for typing single nucleotide polymorphisms (SNPs) that takes advantage of the 3'-to-5' exonuclease proofreading activity of many DNA polymerases. The assay uses one or more primers labeled on the 3' nucleotide base, and can be implemented in a variety of formats including a one-step PCR reaction that allows SNP typing directly from genomic DNA samples. The detection of genotypes can be accomplished by means of fluorescence detection on assays that have been purified to remove excess primer, or by means of fluorescence polarization without any additional cleanup. We also demonstrate that the Exo-Proofreading SNP assay can be used on pooled samples to obtain allele frequency data.

Publication types

  • Validation Study

MeSH terms

  • Alleles
  • DNA Mutational Analysis / methods*
  • DNA Mutational Analysis / standards*
  • DNA-Directed DNA Polymerase / metabolism
  • Gene Frequency / genetics
  • Humans
  • Polymorphism, Single Nucleotide / genetics*
  • Sequence Analysis, DNA / methods
  • Sequence Analysis, DNA / standards

Substances

  • Pwo polymerase
  • DNA-Directed DNA Polymerase