Open AccessMultiplex ligation-dependent probe amplification – a short overview
Author(s) -
Valeriu Moldovan,
Elena Moldovan
Publication year - 2020
Publication title -
revista română de medicină de laborator
Language(s) - English
Resource type - Journals
eISSN - 2284-5623
pISSN - 1841-6624
DOI - 10.2478/rrlm-2020-0016
Subject(s) - multiplex ligation dependent probe amplification , multiplex , sanger sequencing , ligation , biology , comparative genomic hybridization , fluorescence in situ hybridization , computational biology , multiplex polymerase chain reaction , high resolution melt , microbiology and biotechnology , genetics , polymerase chain reaction , dna sequencing , gene , genome , chromosome , exon
Multiplex Ligation-dependent Probe Amplification is a technique proposed for the detection of deletions or duplications that may lead to copy number variations in genomic DNA, mainly due to its higher resolution, and shorter overall diagnosis time, when compared with techniques traditionally used, namely karyotyping, fluorescence in situ hybridization, and array comparative genomic hybridization. Multiplex Ligation-dependent Probe Amplification is a fast (about 2 days), useful and cost-effective technique, being suitable for the diagnosis of hereditary conditions caused by complete or partial gene deletions or duplications, as these conditions are either more difficult or impossible to be diagnosed by other techniques, such as PCR, Real-Time PCR, or sequencing (Sanger or Next Generation). Due to its numerous advantages over conventional cytogenetic analysis techniques, Multiplex Ligation-dependent Probe Amplification could be used in the near future as the main technique for the molecular investigation of genetic conditions caused by copy number variations, in both rare and complex genetic disorders.