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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes.
Ludmila Kousoulidou1, Katrin Männik, Carolina Sismani
1Department of Cytogenetics, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Nature Protocols
|May 3, 2008
Summary
This study introduces Array-MAPH, a novel microarray technique for detecting subtle genomic imbalances. This method enhances diagnostic genetics and genomics by improving hybridization specificity and resolution for copy-number changes.
Area of Science:
- Genetics
- Genomics
- Molecular Biology
Background:
- High-throughput genome-wide screening is crucial for diagnostic genetics.
- Detecting subtle genomic imbalances requires precise and high-resolution methods.
- Existing techniques like array-comparative genomic hybridization (array-CGH) have limitations in specificity and resolution.
Purpose of the Study:
- To provide a detailed protocol for a novel microarray-based technique, Array-MAPH.
- To develop methodology and software for designing specific PCR-amplifiable sequences for genomic analysis.
- To enable detection of small-scale copy-number changes in complex genomes.
Main Methods:
- Multiplex Amplifiable Probe Hybridization (MAPH) principle applied to microarrays.
- Design of unique PCR-amplifiable sequences (400-600 bp) for target regions.
- Hybridization of labeled probes to target sequences on an array, followed by quantitative PCR recovery and analysis.
Main Results:
- The Array-MAPH procedure can be completed in 4-5 working days (excluding array preparation).
- Achieves increased hybridization specificity and higher potential resolution compared to array-CGH.
- Demonstrates utility in detecting small-scale copy-number variations.
Conclusions:
- Array-MAPH offers a powerful tool for detecting copy-number changes in complex genomes.
- Facilitates genotype-phenotype correlations and the discovery of novel genes.
- Represents a significant advancement in diagnostic genetics and genomic screening.
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