DOE Human Genome Program Contractor-Grantee Workshop VIII
February 27-March 2, 2000  Santa Fe, NM

33. Mass Spectrometric Analysis of Genetic Variations

Lloyd M. Smith

Department of Chemistry, University of Wisconsin-Madison, Madison, WI

smith@chem.wisc.edu

In the last decade two powerful new tools for the mass spectrometric analysis of biomolecules have been developed, Matrix-Assisted Laser Desorption Mass Spectrometry (MALDI-MS), and Electrospray Ionization Mass Spectrometry (ESI-MS). The power of these methods lies in their ability to produce and mass analyze intact gas phase ions from very large molecules such as proteins and nucleic acids. The speed, accuracy, and sensitivity of the technologies make them well-suited to address a number of problems in genetic analysis, including the analysis of DNA sequence, genetic variations, and gene expression. Results in these areas will be presented, including recent work in which single nucleotide polymorphisms (SNPs) in genomic DNA may be analyzed without need for a prior PCR amplification step.