High-throughput DNA analysis by time-of-flight mass spectrometry

  title={High-throughput DNA analysis by time-of-flight mass spectrometry},
  author={J. Monforte and C. Becker},
  journal={Nature Medicine},
Four common mutations of the cystathionine beta-synthase gene detected by multiplex PCR and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
The results demonstrate fast, simple, and unambiguous multiplex genotyping of four common CBS mutations by MALDI-TOF mass spectrometry.
Genetic Fingerprinting Using Microsatellite Markers in a Multiplex PCR Reaction: A Compilation of Methodological Approaches from Primer Design to Detection Systems.
This commonly used genotyping technique is introduced and described, providing an overview on available resources on STRs, multiplex design, and analysis.
Perspectives for Future DNA Sequencing Techniques and Applications
The first observations suggest that both genomic and transcriptomic heterogeneities within an organism are more common than expected during normal development and disease.
Measuring specificity in multi-substrate/product systems as a tool to investigate selectivity in vivo.
This review looks at different methods for studying multiple substrate enzymes, as well as explores options on how to most accurately describe an enzyme's activity within these multi-substrate systems.
Biological activity of N(4)-boronated derivatives of 2'-deoxycytidine, potential agents for boron-neutron capture therapy.
Boron-neutron capture therapy is a binary anticancer therapy that requires boron compound for nuclear reaction during which high energy alpha particles and lithium nuclei are formed, and biological properties of this compound are presented for the first time.
Detection of Genetic Alterations by Nucleic Acid Analysis: Use of PCR and Mass Spectroscopy-Based Methods
Cell free circulating DNA, isolated from blood has emerged as a potential biomarker in oncology. There has been also considerable progress towards theranostic application of circulating DNA. These
Next Generation DNA Sequencing (II): Techniques, Applications
The status of the technology in the second half of the year 2015, both of the novel commercially available platforms, and of the systems in development are discussed, and techniques with potential for future DNA sequencing techniques are mentioned.
New Horizons in Next-Generation Sequencing
This chapter describes the most common and well-established next-generation sequencing technologies and platforms and several methodologies and sequencers with outstanding features that have also been released in the last few years.
Application of mass spectrometry to molecular diagnostics of viral infections
Matching of molecular techniques with specific requirements of the major MS platforms has produced powerful technologies for molecular diagnostics, which will further benefit from coupling with computational tools for extracting clinical information from MS-derived data.


Novel non-templated nucleotide addition reactions catalyzed by procaryotic and eucaryotic DNA polymerases.
  • J. Clark
  • Biology, Medicine
    Nucleic acids research
  • 1988
Results demonstrate that template instruction is not an absolute requirement for the catalysis of nucleotidyl transfer reactions by DNA polymerases.
Genotyping of forensic short tandem repeat (STR) systems based on sizing precision in a capillary electrophoresis instrument
The precision of the 310 capillary electrophoresis system, coupled with software developed for automated genotyping of alleles based on the use of an allelie ladder, allows for accurate genotypesing of STR loci.
Effect of impurities on the matrix-assisted laser desorption mass spectra of single-stranded oligodeoxynucleotides.
The effect of impurities on the analysis of single-stranded DNA oligomers by the technique of matrix-assisted laser desorption/ionization with time-of-flight mass spectrometry has been studied using
Molecular Detection of Primary Bladder Cancer by Microsatellite Analysis
In a blinded study, urine samples from 25 patients with suspicious bladder lesions that had been identified cystoscopically were analyzed and microsatellite changes matching those in the tumor were detected in the urine sediment of 19 of the 20 patients who were diagnosed with bladder cancer.
Time-of-flight mass spectrometry of underivatized single-stranded DNA oligomers by matrix-assisted laser desorption.
It is concluded that a linear TOF system is better suited for the mass spectrometric analysis of ssDNA oligomers larger than about a 25-mer, with the apparent advantages of better sensitivity and mass resolution.
Automated DNA profiling employing multiplex amplification of short tandem repeat loci.
The combination of multiplex STR-PCR and automatic fluorescence-based detection is thus a rapid and powerful technique for individual identification.
Matrix-assisted laser desorption time-of-flight mass spectrometry of oligonucleotides using 3-hydroxypicolinic acid as an ultraviolet-sensitive matrix.
Results were obtained with a new matrix material, 3-hydroxypicolinic acid (3-Hydroxypyridine-2-carboxylic acid), which showed significant improvement over many previously reported matrices studied in terms of mass range available, signal-to-noise ratio, and the ability to analyze mixed-base oligomers.
Matrix-assisted laser desorption mass spectrometry of oligodeoxythmidylic acids
Ferulic acid, sinapinic acid and 2,5-dihydroxybenzoic acid (DHBA) have been tested as matrix materials for matrix-assisted laser desorption of the pure oligonucleotide pd(T)12 and a mixture of
Principles and applications of matrix-assisted UV-laser desorption/ionization mass spectrometry
Abstract Matrix-assisted laser desorption/ionization mass spectrometry (LDI MS) has shown its potential for desorbing ions of biomolecules with relative molecular masses ( M r ) up to about 300 000