title: Genotyping single nucleotide polymorphisms by mass spectrometry.
abstract: In the last decade, the demand for high-throughput DNA analysis methods has dramatically increased, mainly due to the advent of the human genome sequencing project that is now nearing completion. Even though mass spectrometry did not contribute to that project, it is clear that it will have an important role in the post-genome sequencing era, in genomics and proteomics. In genomics, mainly matrix-assisted laser desorption/ionization (MALDI) mass spectrometry will contribute to large-scale single nucleotide polymorphism (SNP) genotyping projects. Here, the development and history of DNA analysis by mass spectrometry is reviewed and put into the context with the requirements of genomics. All major contributions to the field and their status and limitations are described in detail.
authors.affiliation: Centre National de Génotypage, Bâtiment G2, 2 Rue Gaston Crémieux, 91057 Evry Cedex, France.
authors.forename: Jörg
authors.initials: J
authors.lastname: Tost
authors.forename: Ivo G
authors.initials: IG
authors.lastname: Gut
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods*; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods*