A simple approach for classifying new mutations as somatic or germinal in DNA samples lacking paired tissue

Biotechniques. 2014 Jun 1;56(6):327-9. doi: 10.2144/000114180. eCollection 2014 Jun.

Abstract

When studying mutations in DNA samples, determining whether novel sequence changes are somatic mutations or germline polymorphisms can be difficult. Here we describe a novel and very simple approach for identification of somatic mutations and loss of heterozygosity (LoH) events in DNA samples where no matched tissue sample is available. Our method makes use of heterozygous polymorphisms that are located near the putative mutation to trace both germinal alleles.

Keywords: cancer; loss of heterozygosity; mutation detection; somatic mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • DNA / genetics*
  • DNA Mutational Analysis / methods*
  • Humans
  • Loss of Heterozygosity
  • Mutation*
  • Neoplasms / genetics*
  • Polymorphism, Genetic

Substances

  • DNA