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

Nelli I. Taranenko, Nicholas Potter, Steve L. Allman, V. V. Golovlev, C. H. Chen

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Genotyping of the dentatorubral-pallidoluysian atrophy (DRPLA) locus in six patient samples, representing four normal individuals and two DRPLA patients, was successfully obtained using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS). DRPLA is a dominantly inherited neurodegenerative disorder associated with the expansion of an unstable trinucleotide (CAG) repeat. The accurate determination of repeat length utilizing MALDI supports the use of this methodology for the analysis of genes containing unstable CAG trinucleotide repeats.

Original languageEnglish (US)
Pages (from-to)25-31
Number of pages7
JournalGenetic Analysis - Biomolecular Engineering
Volume15
Issue number1
DOIs
StatePublished - Mar 1 1999
Externally publishedYes

Fingerprint

Progressive Myoclonic Epilepsy
Neurodegenerative diseases
Trinucleotide Repeats
Neurodegenerative Diseases
Ionization
Mass spectrometry
Desorption
Mass Spectrometry
Lasers
Genes
Matrix-Assisted Laser Desorption-Ionization Mass Spectrometry

All Science Journal Classification (ASJC) codes

  • Applied Microbiology and Biotechnology
  • Genetics

Cite this

Detection of trinucleotide expansion in neurodegenerative disease by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. / Taranenko, Nelli I.; Potter, Nicholas; Allman, Steve L.; Golovlev, V. V.; Chen, C. H.

In: Genetic Analysis - Biomolecular Engineering, Vol. 15, No. 1, 01.03.1999, p. 25-31.

Research output: Contribution to journalArticle

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