2-DIMENSIONAL DNA ELECTROPHORESIS IN MUTATION DETECTION

Accurate detection of gene mutations is important in many areas of bio logy and medicine. In fundamental studies of mutagenesis it is often n ecessary to assess all possible mutations, either spontaneous or induc ed by genotoxic agents, in a particular gene or gene sequence to expla in a given cellular or physiological endpoint. In molecular medicine c omprehensive detection of all possible mutations in a disease gene is required before clinical genetic testing becomes feasible. Of the many mutation detection methods currently available none is capable of sca nning for all possible mutations in a cost-effective manner. Here we s how that by two-dimensional DNA electrophoretic separation, on the bas is of both size and base pair sequence, in principle all mutations in a given gene can be detected. This is illustrated by some data on 2-D electrophoresis of 10 exons of the cystic fibrosis gene.