Solid-Phase Minisequencing as a Tool to Detect DNA Polymorphism

Single-base substitutions, which give rise to biallelic sequence polymorphism, have been estimated to occur on the average at one out of a thousand nucleotides in the human genome (1 ). Analysis of this allelic variation can be utilized in population genetic studies, in genetic-linkage analysis, for the discrimination between individuals and for tissue typing. Genotyping by analyzing single-nucleotide polymorphisms provides some clear advantages compared to genotyping by analyzing multiallelic microsatellite markers. The mutation rate of single nucleotides is lower, single-base substitutions can be detected by technically simple, automatable methods, and the computational interpretation of the results is simpler.