Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening

Abstract

The generation of the draft human genome sequence has created new possibilities for diagnosis, prevention, and treatment of human disease. One consequence of these new possibilities is an increasing need for methods and technology that can be used for high‐throughput screening for mutations in large DNA sample materials. In recent years, a number of mutation screening methods have emerged that are based on the analysis of sequence‐dependent changes in the conformation of single‐ and double‐stranded DNA using capillary electrophoresis. Common features of these methods are high sensitivity and reproducibility as well as the possibility for automation and massive parallelization. Thus, at present they are among the most attractive technologies for high‐throughput mutation screening. This review describes the recent advances in capillary electrophoresis‐based single strand conformation polymorphism (CE‐SSCP) for detection of unknown mutations, and assesses its practical usability for high‐throughput mutation screening based on the available literature. In addition, future prospects are outlined in light of the recent advances in microchip‐based capillary electrophoresis. Hum Mutat 21:455–465, 2003.