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Related Concept Videos

MALDI-TOF Mass Spectrometry01:19

MALDI-TOF Mass Spectrometry

Mass spectrometry is a powerful characterization technique that can identify and separate a wide variety of compounds ranging from chemical to biological entities, based on their mass-to-charge ratio (m/z). The instruments that allow this detection, known as mass spectrometers, have three components: an ion source, a mass analyzer, and a detector. These spectrometers differ based on the nature of their ion source and analyzers.Matrix-assisted laser desorption ionization (MALDI) is a commonly...
Peptide Identification Using Tandem Mass Spectrometry01:33

Peptide Identification Using Tandem Mass Spectrometry

Tandem mass spectrometry, also known as MS/MS or MS2, is an analytical technique that employs two mass analyzers. Essentially it is a series of mass spectrometers that helps isolate a particular biomolecule and then helps study its chemical properties.
This technique helps gather information regarding the protein from which the peptide was obtained and to study the peptides’ amino acid sequence. Identifying peptides from a complex mixture is an important component of the growing field of...
Mass Spectrometry: Complex Analysis01:21

Mass Spectrometry: Complex Analysis

Mass spectrometry is an important technique for the identification of pure compounds. However, it has some limitations for the analysis of complex mixtures, often due to excessive fragmentation making the spectrum too complicated to decipher. Mass spectrometry can be combined with suitable separation methods in sequence, forming hyphenated methods, which are useful in the analysis of complex mixtures.
GC–MS is a powerful hyphenated method commonly used in forensics and environmental...
Tandem Mass Spectrometry01:21

Tandem Mass Spectrometry

Tandem mass spectrometry is a technique that uses multiple mass analyzers in series to obtain a higher selectivity and reduce chemical noise during analyte detection. Instruments with multiple analyzers separated by an interaction cell enable secondary fragmentation and selected study of the fragment ions.Secondary fragmentations occur in the interaction cell and can be induced by various factors. Fragmentation induced by collision with inert gases, such as N2, Ar, He, etc., is called...
Rapid Identification of Pathogens01:25

Rapid Identification of Pathogens

MALDI-TOF MS has transformed clinical microbiology by offering a rapid and reliable method for pathogen identification. The traditional approach to microbial identification typically involves time-consuming culture techniques and biochemical tests, which can delay the initiation of appropriate antimicrobial therapy. MALDI-TOF MS avoids these delays by using characteristic ribosomal protein mass patterns of microbial cells, enabling accurate species-level identification within minutes.Principle...

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Related Experiment Video

Updated: Jul 11, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

High-throughput multiplex SNP genotyping with MALDI-TOF mass spectrometry: practice, problems and promise.

M S Bray1, E Boerwinkle, P A Doris

  • 1Human Genetics Center, University of Texas Health Science Center at Houston, Houston, Texas, 77255, USA. molly.s.bray@uth.tmc.edu

Human Mutation
|April 11, 2001
PubMed
Summary

Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF) enables cost-effective, high-throughput genotyping of single nucleotide polymorphisms (SNPs). This method efficiently differentiates genotypes for disease gene discovery and human origins research.

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Last Updated: Jul 11, 2026

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05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Genetics
  • Biotechnology
  • Mass Spectrometry

Background:

  • Single nucleotide polymorphisms (SNPs) are crucial genetic markers for disease gene discovery, pharmacogenetics, and understanding human evolution.
  • High-throughput and cost-effective genotyping methods are essential for leveraging SNP data.
  • Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF) offers a promising approach for SNP genotyping.

Purpose of the Study:

  • To evaluate the utility of MALDI-TOF mass spectrometry for production-scale single nucleotide polymorphism (SNP) genotyping.
  • To assess the cost-effectiveness and efficiency of MALDI-TOF for high-throughput genotyping applications.

Main Methods:

  • Developed a genotyping protocol combining 4 microl PCR amplification with a secondary enzymatic mini-sequencing reaction.
  • Utilized MALDI-TOF mass spectrometry to differentiate genotypes based on the mass of the variant DNA sequence.
  • Performed single and multiplex PCR and mini-sequencing reactions, genotyping seven variant sites in 989 individuals.

Main Results:

  • Genotypes generated via MALDI-TOF mass spectrometry were compared with those from a 5' exonuclease fluorescence-based assay (Taqman) and a gel-based protocol.
  • The MS technique demonstrated efficiency and cost-effectiveness for high-throughput SNP genotyping.
  • Multiple polymorphisms could be detected within a single reaction, enhancing throughput.

Conclusions:

  • MALDI-TOF mass spectrometry is a viable and efficient method for high-throughput SNP genotyping.
  • This technique provides a cost-effective solution for large-scale genetic studies, including disease gene discovery and population genetics.
  • The ability to multiplex reactions further increases the efficiency of SNP analysis.