Multiplex ligation-dependent probe amplification – a short overview
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, n...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Sciendo
2020-04-01
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| Series: | Romanian Journal of Laboratory Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/rrlm-2020-0016 |
| _version_ | 1819147952297345024 |
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| author | Moldovan Valeriu Moldovan Elena |
| author_facet | Moldovan Valeriu Moldovan Elena |
| author_sort | Moldovan Valeriu |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-22T13:37:59Z |
| format | Article |
| id | doaj.art-0a723df7761643c9bb5c12431ac8bf7d |
| institution | Directory Open Access Journal |
| issn | 2284-5623 |
| language | English |
| last_indexed | 2024-12-22T13:37:59Z |
| publishDate | 2020-04-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Romanian Journal of Laboratory Medicine |
| spelling | doaj.art-0a723df7761643c9bb5c12431ac8bf7d2022-12-21T18:24:00ZengSciendoRomanian Journal of Laboratory Medicine2284-56232020-04-0128212313110.2478/rrlm-2020-0016rrlm-2020-0016Multiplex ligation-dependent probe amplification – a short overviewMoldovan Valeriu0Moldovan Elena1Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, RomâniaPediatric Intensive Care Unit, Cardiovascular and Transplant Emergency Institute of Târgu Mureș, RomâniaMultiplex 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.https://doi.org/10.2478/rrlm-2020-0016mlpacopy number variationcnvkaryotypingcytogenetic analysis |
| spellingShingle | Moldovan Valeriu Moldovan Elena Multiplex ligation-dependent probe amplification – a short overview Romanian Journal of Laboratory Medicine mlpa copy number variation cnv karyotyping cytogenetic analysis |
| title | Multiplex ligation-dependent probe amplification – a short overview |
| title_full | Multiplex ligation-dependent probe amplification – a short overview |
| title_fullStr | Multiplex ligation-dependent probe amplification – a short overview |
| title_full_unstemmed | Multiplex ligation-dependent probe amplification – a short overview |
| title_short | Multiplex ligation-dependent probe amplification – a short overview |
| title_sort | multiplex ligation dependent probe amplification a short overview |
| topic | mlpa copy number variation cnv karyotyping cytogenetic analysis |
| url | https://doi.org/10.2478/rrlm-2020-0016 |
| work_keys_str_mv | AT moldovanvaleriu multiplexligationdependentprobeamplificationashortoverview AT moldovanelena multiplexligationdependentprobeamplificationashortoverview |