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

Single-nucleotide polymorphisms: analysis by mass spectrometry.

Sascha Sauer1, Richard Reinhardt, Hans Lehrach

  • 1Max Planck Institute for Molecular Genetics, Department of Vertebrate Genomics, Ihnestrasse 63-73, 14195 Berlin-Dahlem, Germany. sauer@molgen.mpg.de

Nature Protocols
|May 10, 2007
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

Enhancing semantic interoperability in precision medicine: converting OMOP CDM to Beacon v2 in the Spanish IMPaCT-Data project.

BMC medical informatics and decision making·2026
Same author

European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.

Frontiers in public health·2026
Same author

ClarID: a human-readable and compact identifier specification for biomedical metadata integration.

Journal of biomedical semantics·2026
Same author

Mechanistic models position ceritinib as a nuclear integrity disrupting therapy in pediatric liver tumors.

Journal of experimental & clinical cancer research : CR·2025
Same author

ClarID: A Human-Readable and Compact Identifier Specification for Biomedical Metadata Integration.

medRxiv : the preprint server for health sciences·2025
Same author

Fluctuating DNA methylation tracks cancer evolution at clinical scale.

Nature·2025

Matrix-assisted laser desorption-ionization mass spectrometry (MALDI-MS) offers powerful nucleic acid analysis. Protocols for genotyping single-nucleotide polymorphisms (SNPs) using MALDI-MS with PCR and primer extension are detailed, including three sample preparation methods.

Area of Science:

  • Biochemistry
  • Molecular Biology
  • Analytical Chemistry

Background:

  • Matrix-assisted laser desorption-ionization mass spectrometry (MALDI-MS) is a key technology for analyzing biomolecules.
  • Genotyping single-nucleotide polymorphisms (SNPs) is crucial for genetic research and diagnostics.
  • Efficient sample preparation is vital for MALDI-MS analysis of nucleic acids.

Purpose of the Study:

  • To present optimized protocols for SNP genotyping using MALDI-MS.
  • To describe three distinct sample preparation methods for primer extension products prior to MALDI analysis.
  • To evaluate the applicability of different purification strategies for MALDI-based SNP genotyping.

Main Methods:

  • Polymerase chain reaction (PCR) amplification followed by primer extension to generate allele-specific products.

Related Experiment Videos

  • Development of three sample preparation techniques: a purification-free 'GOOD' assay utilizing DNA modification, solid-phase extraction, and microarray purification.
  • Analysis of prepared samples using Matrix-assisted laser desorption-ionization mass spectrometry (MALDI-MS).

    • Main Results:

    • Successful genotyping of single-nucleotide polymorphisms (SNPs) was achieved using MALDI-MS.
    • The 'GOOD' assay provides a purification-free method by employing DNA modification chemistry.
    • Solid-phase extraction and microarray purification offer alternative strategies for sample preparation, each with specific application advantages.
    • Protocols are completed within a 6-8 hour timeframe, depending on the chosen method.

    Conclusions:

    • MALDI-MS is a versatile and effective platform for SNP genotyping.
    • The presented protocols offer flexibility in sample preparation, catering to diverse research needs.
    • These methods facilitate efficient and timely genetic analysis, advancing applications in molecular diagnostics and research.