Mutation and single nucleotide polymorphism detection using temperature gradient capillary electrophoresis

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.

• capillary electrophoresis
• genetic screening
• molecular diagnostics
• mutation detection
• pharmacogenetics
• SNP
• somatic mutation