Increasing evidence has suggested that single-nucleotide polymorphisms (SNPs) are closely associated with medical conditions and genetic diseases, although the majority has little impact on human health. Recent studies further suggested that SNPs may serve as a new generation of biomarkers in diagnosis and prognosis of genetic diseases, including cancer. There is therefore growing demand for researchers to develop simple, robust techniques that allow rapid, sensitive and selective genotyping and quantification of SNPs at the point of care. This article reviews progress in research and development of techniques for SNPs. The emphasis is on the detection mechanism, the performance and the applications of genotyping and quantification techniques, with some discussion on challenges and perspectives. We hope that this article can assist researchers to identify techniques that are appropriate for their purposes through providing a basic understanding of the fundamentals and the protocols of the techniques.

Keywords: Allele-specific hybridization; Cancer; Deoxyribonucleic acid; Detection mechanism; Diagnostics; Genetic disease; Genotyping; Molecular beacon; Sequencing; Single-nucleotide polymorphism.