Conflicting results in SNP genotype assessment

Biotechniques. 2007 Dec;43(6):756, 758, 760 passim. doi: 10.2144/000112675.

Abstract

Single nucleotide polymorphisms (SNPs) are highly abundant in the genome and especially useful in the search for disease susceptibility genes via population-based association or linkage studies. Therefore, there is a strong need for high throughput and reliable methodologies to assess the SNP genotypes. Despite an unambiguous result of an SNP analysis, with the use of a commercial kit based on primer extension, subsequent sequencing analysis revealed that a proportion of the genotypes was not correctly assessed. The problem we have encountered may originate from specific structures in the genomic DNA sequence, rather than being a methodological problem.

Publication types

  • Controlled Clinical Trial
  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Base Sequence
  • Breast Neoplasms / genetics*
  • DNA Primers / genetics
  • Female
  • Genetic Linkage
  • Genetic Testing / methods*
  • Genetic Testing / standards*
  • Genotype
  • Humans
  • Molecular Sequence Data
  • Polymorphism, Single Nucleotide / genetics*
  • Reagent Kits, Diagnostic
  • Reproducibility of Results

Substances

  • DNA Primers
  • Reagent Kits, Diagnostic