Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

Methods Mol Biol. 2005:311:125-37. doi: 10.1385/1-59259-957-5:125.


Major strengths of mass spectrometry analysis include the accuracy of the detection principle and the automatic data storage, making it a premier choice for high-throughput single-nucleotide polymorphism genotyping. We explain the assay principle in detail and give step-by-step laboratory instructions. Finally, references point toward further use of mass spectrometry analysis for molecular haplotyping, pooled DNA analysis, re-sequencing, and gene expression studies.

MeSH terms

  • Automation
  • Genotype
  • Humans
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA / methods
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / methods*