Marja Jakobs, Ted Bradley, Ferry Klein, Nico Ponne, Frank Baas
Neurogenetics, AMC, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
Several methods have been developed for high throughput genotyping. MALDI TOF mass spectrometry has been proven to be a powerful method for genotyping SNP’s. In combination with the single base extension sequencing reaction, on a PCR product, known SNP’s could be genotyped. We automated simple pipetting protocols using a Biomek FX in combination with a Sagian robot street. For the high throughput acquisition of mass spectra a Bruker Biflex III MALDI TOF MS and for the genotyping Genotools 2.0, developed by Bruker, was used.
Since multiplex levels up to 6 times belongs to the possibilities, SNP genotyping using a MALDI TOF is very cost efficient. Call rates exceeding 95% can easily be achieved.