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High-throughput methods for detection of genetic variation
V N Kristensen1, D Kelefiotis, T Kristensen
1Institute for Cancer Research, Norwegian Radium Hospital, Montebello 0310, Oslo, Norway. nedelcheva.vessela@dnr.uio.no
Biotechniques
|March 10, 2001
Summary
This review explores methods for identifying and visualizing genetic variations, crucial for understanding disease susceptibility and treatment response. It categorizes techniques like enzymatic, electrophoretic, solid-phase, chromatographic, physical, and in silico approaches.
Area of Science:
- Genetics and Genomics
- Molecular Biology
- Bioinformatics
Background:
- Human genetic variation influences disease susceptibility and drug response.
- Accurate identification of genetic alterations is essential for personalized medicine.
Purpose of the Study:
- To systematically review and categorize diverse methods for identifying and visualizing genetic variations.
- To provide an overview of established and emerging techniques in allele discrimination.
Main Methods:
- Enzymatic approaches (e.g., restriction enzymes, polymerases, ligases).
- Electrophoretic methods (e.g., DNA sequencing, heteroduplex analysis).
- Solid-phase determination (e.g., oligonucleotide arrays, DNA sensors).
- Chromatographic (DHPLC), physical (mass spectrometry, fluorescence), and in silico methods (EST analysis).
Main Results:
- Categorization of allele discrimination techniques into six main groups.
- Description of frequently used methods and their instrumental settings.
- Discussion of less common but promising techniques for genetic variation analysis.
Conclusions:
- A comprehensive overview of genetic variation identification and visualization techniques is presented.
- The review aids researchers in selecting appropriate methods for their specific genetic studies.
- Understanding these methods is key to advancing personalized medicine and disease research.