MLPA and MAPH: sensitive detection of deletions and duplications

Johan den Dunnen, Stefan White

Research output: Chapter in Book/Report/Conference proceedingChapter (Book)Researchpeer-review

27 Citations (Scopus)


The detection of quantitative changes in genomic DNA, i.e., deletions and duplications or so called Copy Number Variants (CNV), is an important element of a complete mutation screening strategy. However, because of practical difficulties, screening for quantitative changes in genomic DNA is often ignored. Hitherto, the techniques available were technically challenging and laborious and thus too costly to be applied on a routine basis. The development of MAPH (Multiplex Amplifiable Probe Hybridization) and more recently MLPA (Multiplex Ligation-dependent Probe Amplification) have revived interest in the detection of deletions and duplications, primarily due to the simplicity and flexibility of these two approaches. Compared to previous technologies, e.g., Southern blotting, fluorescence in situ hybridization (FISH), quantitative PCR (qPCR), and breakpoint PCR, they have some clear advantages, including high resolution, high throughput, amenability to multiplexing, and simplicity.
Original languageEnglish
Title of host publicationCurrent Protocols in Human Genetics
EditorsJonathan L Haines, Bruce R Korf, Cynthia C Morton, Christine E Seidman, J G Seidman, Douglas R Smith
Place of PublicationUnited States
PublisherJohn Wiley & Sons
Pages71401 - 71420
Number of pages20
ISBN (Print)1934-8266
Publication statusPublished - 2006
Externally publishedYes

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