Validation of single nucleotide polymorphism quantification in pooled DNA samples with SNaPIT. A glycosylase-mediated methods for polymorphism detection method

Mol Biotechnol. 2002 Nov;22(3):253-62. doi: 10.1385/mb:22:3:253.

Abstract

Association studies using genome scans to identify quantitative trait loci for multifactorial disorders, with anything approaching reasonable power, have been compromised by the need for a very dense array of genetic markers and large numbers of affected individuals. These requirements impose enormous burdens on the genotyping capacity for most laboratories. DNA pooling has been proposed as a possible approach to reduce genotyping costs and effort. We report on the application of the SNaPIT technology to evaluate allele frequencies in pooled DNA samples and conclude that it offers a cost effective, efficient and accurate estimator and provides several advantages over competing technologies in this regard.

Publication types

  • Comparative Study
  • Evaluation Study
  • Validation Study

MeSH terms

  • Chromosome Mapping / methods
  • DNA / analysis
  • DNA / genetics*
  • DNA / metabolism*
  • DNA Glycosylases
  • DNA Mutational Analysis / methods*
  • Gene Frequency / genetics*
  • Genetic Testing / methods
  • Genetic Variation
  • Genotype
  • Humans
  • N-Glycosyl Hydrolases / metabolism*
  • Polymorphism, Single Nucleotide / genetics*
  • Reproducibility of Results
  • Sensitivity and Specificity
  • Sequence Alignment

Substances

  • DNA
  • DNA Glycosylases
  • N-Glycosyl Hydrolases