Genome Analysis by Mass Spectrometry

SNP Genotyping

Abstract

Mass spectrometry (MS) is proud of its high-throughput and sensitivity in the proteomic studies. However, the measurement of DNA by MS has not been in practice mainly due to its inherently large molecular size, though various applications of genetic analysis have been proposed so far. Now in the post-genome era, one of the highest demands on the genome analysis is the single nucleotide polymorphism genotyping, which is, in principle, the determination of single nucleotide substitutions at specific sites. A number of different methods using MS have been developed for this purpose, and some of those enabling multiplex analysis have advantages over other gel- or hybridization-based methods.