Single-nucleotide polymorphism analysis by MALDI-TOF mass spectrometry

Trends Biotechnol. 2000 Feb;18(2):77-84. doi: 10.1016/s0167-7799(99)01401-8.


Single-nucleotide polymorphisms (SNPs) have great potential for use in genetic-mapping studies, which locate and characterize genes that are important in human disease and biological function. For SNPs to realize their full potential in genetic analysis, thousands of different SNP loci must be screened in a rapid, accurate and cost-effective manner. Matrix-assisted laser desorption-ionization-time-of-flight (MALDI-TOF) mass spectrometry is a promising tool for the high-throughput screening of SNPs, with future prospects for use in genetic analysis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

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