DETECTING SINGLE-BASE MUTATIONS

The ability to detect single-base changes is of fundamental importance in molecular genetics. This is particularly true in human genetics, where interest in linking mutations of identified genes to particular disease phenotypes is most intense, and where a demand exists for clinical diagnosis of defined mutations. In the following article, techniques are described for screening unknown mutations, as well as diagnosing those that have been identified previously. The underlying methods are explained briefly and guidelines are offered for choosing one technique in preference to another.