Nucleotide sequence changes in human genome: detection by single-strand conformation polymorphism analysis

Mobility shift of single-stranded DNA molecules with a single-base substitution in polyacrylamide gel electrophoresis due to a change of secondary and tertiary structures provides a simple, sensitive method, single-strand conformation polymorphism (SSCP) analysis, for detection of nucleotide sequence changes in DNA. The method with the quite unique principle can detect single-nucleotide substitutions, insertions or deletions of a short nucleotide sequence and loss of genes in human cancers and other genetic diseases. The great progress of the Human Genome Project has revealed thousands of genes associated with these diseases and led to an increasing need for detection of mutations and SNPs in large numbers of DNA samples. The recent development of high-throughput SSCP technologies will enable to meet this need even in a clinical setting. (Communicated by Shoji SHIBATA, M.J.A., Feb. 12, 2004)