title: Mining disease susceptibility genes through SNP analyses and expression profiling using MALDI-TOF mass spectrometry.
abstract: To find genes that underlie disease susceptibilities, genome-wide single nucleotide polymorphisms (SNPs) have been analyzed using high-throughput matrix assisted laser desorption/ionization (MALDI) time-of-flight (TOF) mass spectrometry (MS). As a proof-of-concept for this approach, gene regions have been identified that were previously associated by others with certain diseases or traits. On the same technology platform, accurate and absolute transcriptional profiling can be performed and applied to allele expression analysis. Here, we provide a brief review of the technology and its applications to disease gene discovery.
authors.affiliation: Sequenom Inc., 3595 John Hopkins Court, San Diego, California 92121, USA.
authors.forename: Kai
authors.initials: K
authors.lastname: Tang
authors.forename: Paul
authors.initials: P
authors.lastname: Oeth
authors.forename: Stefan
authors.initials: S
authors.lastname: Kammerer
authors.forename: Mikhail F
authors.initials: MF
authors.lastname: Denissenko
authors.forename: Jonas
authors.initials: J
authors.lastname: Ekblom
authors.forename: Christian
authors.initials: C
authors.lastname: Jurinke
authors.forename: Dirk
authors.initials: D
authors.lastname: van den Boom
authors.forename: Andreas
authors.initials: A
authors.lastname: Braun
authors.forename: Charles R
authors.initials: CR
authors.lastname: Cantor
mesh_terms: D000483:Alleles; D018925:Chemokines / Q000378:metabolism; D018076:DNA, Complementary / Q000378:metabolism; D004305:Dose-Response Relationship, Drug; D020022:Genetic Predisposition to Disease; D016678:Genome; D006801:Humans; D010597:Pharmacogenetics; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D020543:Proteome; D040901:Proteomics / Q000379:methods*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods*; D014158:Transcription, Genetic
chemical_list: D018925:Chemokines; D018076:DNA, Complementary; D020543:Proteome