Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Quantitative approach to single-nucleotide polymorphism analysis using MALDI-TOF mass spectrometry.

P Ross1, L Hall, L A Haff

  • 1Applied Biosytems, Framingham, MA, USA. philip_ross@pbio.com

Biotechniques
|September 21, 2000
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Intranetwork variation in neoadjuvant therapy delivery for borderline resectable and locally advanced pancreatic cancer: a UK multicentre cohort study.

Annals of the Royal College of Surgeons of England·2026
Same author

The INTERACT study: Infection prevention and surveillance practice in the care of the Australasian cancer and transplant population.

American journal of infection control·2025
Same author

Portable real-time polarimeter for partially and fully polarized light.

The Review of scientific instruments·2024
Same author

The quality of antimicrobial prescribing in skin and soft tissue management in Australian hospitals: an analysis of the National Antimicrobial Prescribing Survey data.

The Journal of hospital infection·2024
Same author

Training during the COVID-19 pandemic: the experience of public health registrars in the London and Kent, Surrey, Sussex training programme.

Journal of public health (Oxford, England)·2023
Same author

Exploring postgraduate epidemiology competencies: Preparing our students for a post-COVID world.

Australian and New Zealand journal of public health·2023

DNA sample pooling streamlines genotyping for disease studies. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) enables accurate quantitative analysis of single-nucleotide polymorphisms (SNPs), detecting allele frequencies as low as 5%.

Area of Science:

  • Genetics
  • Biotechnology
  • Mass Spectrometry

Background:

  • DNA sample pooling is crucial for efficient large-scale genotyping in genetic studies.
  • Single-nucleotide polymorphism (SNP) analysis is vital for disease association and genetic screening.
  • Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) offers high resolution for molecular analysis.

Purpose of the Study:

  • To apply MALDI-TOF MS for quantitative analysis of SNPs in pooled DNA samples.
  • To evaluate the sensitivity and accuracy of MALDI-TOF MS for SNP quantitation.
  • To demonstrate the utility of this method for high-throughput genetic screening.

Main Methods:

  • Utilized primer extension assays on pooled PCR products.
  • Performed quantitative analysis using MALDI-TOF MS.

Related Experiment Videos

  • Tested the method across multiple loci with varying allele frequencies.

    • Main Results:

    • MALDI-TOF MS provided high specificity and signal-to-noise ratio for accurate SNP quantitation.
    • The method achieved high sensitivity, enabling detection of allele frequencies as low as 5%.
    • Quantitative and unambiguous detection of low-frequency alleles was demonstrated.

    Conclusions:

    • MALDI-TOF MS is a powerful tool for quantitative SNP analysis in pooled DNA.
    • This approach enhances the throughput and economic benefits of large-scale genotyping.
    • The method accurately quantifies low allele frequencies, supporting genetic association studies and screening programs.