The invention presents a method for examining genetic material
(deoxyribonucleic acid, DNA) to detect the presence of pre-known
mutations, especially single nucleotide polymorphisms (SNP), using mass
spectrometry with ionization by matrix-assisted laser desorption (MALDI).
The invention uses nucleoside triphosphates with modified sites for the
method of primer extension in a duplicating, enzymatic reaction and at
least partially removal of primers from the extension product, in
combination with product neutralization by chemical treatment of the
modified sites, so that the resulting DNA products can be, by using
special matrix materials, preferredly ionized in an adduct-free form over
other constituents in the reaction solution without any further cleaning.
The method is particularly suitable for simultaneous identification of
several mutations by multiplexing.