Denaturing high performance liquid chromatography (DHPLC) in detection of microsatellite instability

Background: Microsatellite instability (MSI) is a phenomenon characterized by small deletions or insertions within short tandem repeats in tumour DNA compared to matching normal DNA. MSI analysis is becoming more and more important for detection of hereditary non-polyposis colorectal cancer as well as for sporadic primary colorectal tumours with MSI high phenotype. Use of five quasimonomorphic mononucleotide markers eliminates ultimate need for analysis of germline DNA corresponding to tumour DNA. Here we discuss our method for MSI analysis using denaturating high performance liquid chromatography (DHPLC) in combination with quasimonomorphic mononucleotide microsatellite markers in comparison with previously used methods. The method is high-throughput, accurate, quick and cost-effective and suitable for large-scale studies as well as for daily use with smaller numbers of samples.