Double- and single-strand conformation polymorphism analysis of point mutations and short tandem repeats

Single point mutations in small DNA fragments and single unit differences in simple repetitive DNA can be detected as double-strand conformation polymorphisms using polyacrylamide gel electrophoresis, with and without sodium dodecyl sulfate, even at temperatures as low as 3 degrees C. Changes in a single base are distinguished by means of the analysis of the heteroduplexes, and changes in more than two bases can be distinguished in both homoduplexes and heteroduplexes. Polymerase chain reaction (PCR) conditions can be designed not only to amplify homoduplexes, heteroduplexes and single-strand DNA at the same time, but also to focus the analysis on either single-strand conformation polymorphism (SSCP) or double-strand conformation polymorphism (DSCP). DSCP seems to be advantageous in typing DNA polymorphisms or mutations in loci with few variants, but, because it is necessary to have a simple pattern of all possible combinations of the alleles, it is not as advantageous in typing systems with many variants.