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Genotyping Multiallelic Copy Number Variation with Multiplex Ligation-Dependent Probe Amplification (MLPA)
Suzan de Boer1, Stefan J White2
1Department of Anatomy & Developmental Biology, Monash University, Clayton, Australia.
Methods in Molecular Biology (Clifton, N.J.)
|November 9, 2016
Summary
Accurately genotyping multiallelic copy number variants is crucial for understanding disease associations. This chapter details the Multiplex Ligation-dependent Probe Amplification (MLPA) method for precise copy number determination.
Area of Science:
- Genetics
- Genomic analysis
- Molecular diagnostics
Background:
- Multiallelic copy number variants (CNVs) exhibit variable copy numbers among individuals.
- Aberrant gene copy numbers are linked to various diseases.
- Accurate genotyping of these CNVs is essential but challenging.
Purpose of the Study:
- To provide a detailed protocol for genotyping multiallelic copy number variants.
- To emphasize accurate methods for copy number determination.
- To highlight the utility of Multiplex Ligation-dependent Probe Amplification (MLPA) for CNV analysis.
Main Methods:
- The chapter outlines the basic protocol for Multiplex Ligation-dependent Probe Amplification (MLPA).
- MLPA is a Polymerase Chain Reaction (PCR)-based technique.
- This method enables the simultaneous determination of copy numbers for up to 50 genomic loci.
Main Results:
- The protocol focuses on achieving precise genotyping of multiallelic copy numbers.
- Emphasis is placed on the appropriate approach for accurate results.
- The MLPA method facilitates reliable copy number determination.
Conclusions:
- Accurate genotyping of multiallelic copy number variants is achievable with standardized protocols.
- Multiplex Ligation-dependent Probe Amplification (MLPA) is a powerful tool for CNV analysis.
- Precise copy number determination using MLPA aids in understanding disease associations.
