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A mass spectrometric approach for rapid and simultaneous detection of several single nucleotide polymorphisms (SNPs) is reported. Oligonucleotide single base extension (SBE) primers, labelled at the 5'-end with photocleavable, quaternised and brominated peptidic mass tags, are extended by a mixture of the four dideoxynucleotides of which one is biotinylated. The 3'-biotinylated extension products are captured by streptavidin-coated solid phase magnetic beads, whilst non-biotinylated extension products and unreacted primers are washed away. Quaternised and brominated mass tags, cleaved from captured extension products during analysis by matrix-assisted laser desorption/ionisation-time-of-flight (MALDI-TOF) MS, are detected at pmol levels. This method is applied to the analysis of mitochondrial DNA polymorphisms for the purpose of human identification.

Original publication




Journal article


Org Biomol Chem

Publication Date





1878 - 1885


Biotinylation, DNA, DNA Primers, Humans, Oligonucleotide Probes, Photochemistry, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Streptavidin, Ultraviolet Rays