Multiplex ligation-dependent probe amplification MLPA

Genomic quantification is necessary to identify large deletions or duplications that occasionally cause single gene disorders. A novel molecular method (multiplex ligation-dependent probe amplification, MLPA) has been recently developed for this purpose and is presented in this chapter. 

Fig. 8.2.2 Principle of genomic quantification by multiplex ligation-dependent probe amplification (MLPA). Synthetic oligonuleotides are designed to bind to exon 1 (oligo 1a and 1b) and 2 (2a and 2b). After specific hybridisation, the oligos are ligated. The ligation products undergo quantitative polymerase chain reaction using universal primers X and Y...

Both Sanger and NGS have a limited ability to detect large deletions and duplications. Identification of such changes generally necessitates the use of other techniques. Options include array comparative genomic hybridization (aCGH) analysis, multiplex ligation-dependent probe amplification (MLPA) analysis, and quantitative PCR (qPCR) analysis. All three techniques allow... 

MLPA multiplex ligation-dependent probe amplification... 

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