Genotyping Multiallelic Copy Number Variation with Multiplex Ligation-Dependent Probe Amplification (MLPA)

Suzan de Boer; Stefan J White

doi:10.1007/978-1-4939-6442-0_9

Genotyping Multiallelic Copy Number Variation with Multiplex Ligation-Dependent Probe Amplification (MLPA)

Methods Mol Biol. 2017:1492:147-153. doi: 10.1007/978-1-4939-6442-0_9.

Authors

Suzan de Boer¹, Stefan J White²

Affiliations

¹ Department of Anatomy & Developmental Biology, Monash University, Clayton, Australia.
² Leiden Genome Technology Center, Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. s.j.white@lumc.nl.

PMID: 27822861
DOI: 10.1007/978-1-4939-6442-0_9

Abstract

Multiallelic copy number variants are genomic loci that can be present in a range of different copy numbers between individuals. High or low copy numbers of specific genes have been associated with different diseases. Precise genotyping of these loci can be complicated, and relies on accurate assays. Multiplex ligation-dependent probe amplification (MLPA) is a PCR-based approach that allows copy number determination of up to 50 genomic loci in a single reaction. In this chapter, we outline the basic protocol, with a particular emphasis on the appropriate approach to accurately genotype multiallelic copy numbers.

Keywords: Capillary electrophoresis; Copy number variation; Deletion; Duplication; MLPA; PCR.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alleles*
DNA Copy Number Variations*
Genotype*
Humans
Multiplex Polymerase Chain Reaction / methods*