US Patent 7160680 Mutation analysis by mass spectrometry using photolytically cleavable primers

The invention relates to a method of a mass-spectrometric analysis of known mutation sites in the genome, such as single nucleotide polymorphisms (SNPs), using the method of restricted primer extension. The invention consists of the use of primers with a photocleavable linker. The linker creates a gap in a DNA strand which is almost the same size as a natural DNA building block (nucleoside). The linker forms a bridge over a base pair without inhibiting hybridization or enzymatic extension. However, the linker allows the primers to be cleaved after extension in order to obtain short DNA fragments which can be more easily detected on the mass spectrometer.