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Recent developments in high-throughput mutation screening.

L A Larsen1, M Christiansen, J Vuust

  • 1The Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Genetics, IMBG, University of Copenhagen, Blegdamsvej 3, DK-2200, Copenhagen, Denmark. lal@medgen.ku.dk

Pharmacogenomics
|November 28, 2001
PubMed
Summary
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High-throughput mutation screening methods are essential for pharmacogenomics. DNA microarrays, MALDI-TOF MS, SSCP, and CSGE offer efficient analysis of genetic variations for large sample sets.

Area of Science:

  • Pharmacogenomics
  • Molecular Biology
  • Genetics

Background:

  • Mutation screening is crucial for pharmacogenomics.
  • Automated DNA sequencing is not ideal for large-scale mutation analysis.
  • High-throughput methods are needed for analyzing hundreds of thousands of mutations.

Purpose of the Study:

  • To review and compare high-throughput mutation screening methods.
  • To identify suitable technologies for large-scale genetic analysis.
  • To discuss the potential of emerging technologies in mutation detection.

Main Methods:

  • DNA microarrays and oligonucleotide chips for known mutations.
  • Matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDI-TOF MS) for single nucleotide polymorphism (SNP) analysis.

Related Experiment Videos

  • Single strand conformation polymorphism (SSCP) and conformation sensitive gel electrophoresis (CSGE) combined with capillary array electrophoresis or denaturing high-performance liquid chromatography for unknown mutations.

    • Main Results:

    • DNA microarrays and oligonucleotide chips enable parallel hybridization for thousands of known mutations.
    • MALDI-TOF MS offers fast, automatable high-throughput SNP analysis.
    • SSCP/CSGE combined with electrophoresis/HPLC provide sensitive, high-throughput screening for unknown mutations with potential for further speed improvements.

    Conclusions:

    • Various high-throughput methods exist for mutation screening in pharmacogenomics.
    • The choice of method depends on whether mutations are known or unknown.
    • Advancements in capillary electrophoresis chips promise faster analysis times for sensitive mutation detection.