Laboratory Protocols for Mutation Detection

Random mutagenesis and gene knockout experiments are standard techniques to investigate the effects of specific genetic factors. In recent years, improved methods for mutation analysis have greatly simplified the study of natural mutations and sequence variants to learn more about the function of our genetic makeup, and to predict and finely diagnose disease. Accordingly, mutation analysis is assuming a rapidly increasing importance in academic, clinical, and industrial research. This collection of protocols for mutation detection techniques arose as a set of formulas shared among participants at a HUGO-sponsored workshop held in Visby in 1995, where an impressive list of originators and major users of mutation detection methods gathered to exchange experiences. The techniques included span a wide range of areas; some are currently in use, while others illustrate principles that may be of importance in future test formats.