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.