Detection of trinucleotide expansion in neurodegenerative disease by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

Genotyping of the dentatorubral-pallidoluysian atrophy (DRPU) locus in six patient samples, representing four normal individuals and two DRPLA patient s, was successfully obtained using matrix-assisted laser desorption/ionizat ion time-of-flight mass spectrometry (MALDI-TOF-MS). DRPLA is a dominantly inherited neurodegenerative disorder associated with the expansion of an un stable trinucleotide (CAG) repeat. The accurate determination of repeat len gth utilizing MALDI supports the use of this methodology for the analysis o f genes containing unstable CAG trinucleotide repeats. (C) 1999 Elsevier Sc ience B.V. All rights reserved.