Mutation and single nucleotide polymorphism detection using temperature gradient capillary electrophoresis

Kathleen M. Murphy, Karin D. Berg

Research output: Contribution to journalArticle

Abstract

Rapid, high-throughput mutation and single nucleotide polymorphism detection technologies are necessary to identify sequence alterations responsible for human disease. Several screening techniques have been developed as alternatives to the costly and time-consuming task of direct gene sequencing. Unfortunately, many of these techniques have relatively low mutation detection sensitivities and/or require significant up-front assay optimization. Temperature gradient capillary electrophoresis is a relatively new mutation screening technology that capitalizes on the denaturing effects of temperature and the high resolution capacity of capillary electrophoresis to detect heteroduplexes formed between mutant and wild type gene sequences. The utility of temperature gradient capillary electrophoresis for the detection of known sequence alterations and as a tool for mutation discovery is reviewed.

Original languageEnglish (US)
Pages (from-to)811-818
Number of pages8
JournalExpert Review of Molecular Diagnostics
Volume3
Issue number6
DOIs
StatePublished - Nov 2003

Keywords

  • Capillary electrophoresis
  • Genetic screening
  • Molecular diagnostics
  • Mutation detection
  • Pharmacogenetics
  • SNP
  • Somaric mutation

ASJC Scopus subject areas

  • Genetics

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