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Related Experiment Videos

In-depth mutation and SNP discovery using DHPLC gene scanning.

Stan L Lilleberg1

  • 1Transgenomic Inc, 12325 Emmet Street, Omaha, NE 68164, USA. slilleberg@transgenomic.com

Current Opinion in Drug Discovery & Development
|April 3, 2003
PubMed
Summary

Denaturing high-performance liquid chromatography (DHPLC) identifies genetic variations and epigenetic alterations for drug discovery. This technology aids in detecting mutations in disease genes and those affecting drug metabolism and resistance.

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Area of Science:

  • Genetics
  • Biochemistry
  • Pharmacology

Background:

  • Denaturing high-performance liquid chromatography (DHPLC) is an emerging technology for genetic variation discovery.
  • DHPLC facilitates the detection of single-nucleotide polymorphisms, small insertions/deletions, and epigenetic alterations like DNA methylation changes.

Purpose of the Study:

  • To highlight the utility of DHPLC in identifying genetic variations and epigenetic modifications.
  • To demonstrate the application of DHPLC in drug discovery and development processes.
  • To showcase the role of DHPLC in target validation and mutation detection in disease-related genes.

Main Methods:

  • DHPLC gene scanning for germ-line and somatic variations.
  • DHPLC-based methodologies for assessing DNA methylation status.

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  • Application of DHPLC for sequence variant detection in drug metabolism and resistance genes.

    • Main Results:

    • DHPLC effectively detects various genetic variations, including single-base substitutions and small indels.
    • The technology is applicable for both germ-line and somatic mutation analysis.
    • DHPLC-based approaches can assess epigenetic alterations at specific DNA loci.

    Conclusions:

    • DHPLC is a versatile tool for discovering functionally relevant genetic variations.
    • The identification of these variations using DHPLC can significantly impact drug discovery and development.
    • DHPLC aids in validating drug targets and identifying mutations critical for therapeutic response and resistance.