Mass spectrometry to assess DNA sequence polymorphisms

摘要: A method for determining the presence of polymorphisms, including mutations, in nucleic acids by using mass spectrometry is presented. The requires amplification acid region to be analyzed followed analysis and comparison obtained spectrum with spectra from wild-type sequences and/or known contain polymorphism. Differences between spectra, either appearance or disappearance one more peaks indicating a change height amount specific mass, indicate Variations involve digestion amplified acid, e.g., restriction enzymes, nucleases chemical methods, prior spectrometry. can applied any type genomic DNA, CDNA RNA. especially well suited performing routine genetic screening on large scale mutations associated disease. also appropriate polymorphisms other purposes, genotyping positional cloning project. preferred approach amplify then digest analyze it via matrix-assisted laser desorption/ionization (MALDI-MS) neodymium-garnet 3-hydroxypicolinic matrix.