Advances of multiplex ligation-dependent probe amplification technology in molecular diagnostics
Multiplex ligation-dependent probe amplification (MLPA) is a multiplex copy number analysis tool which is routinely used to detect large mutations in genetic diseases. With continuous modifications, MLPA has been extended for the detection of DNA methylation variation, single nucleotide polymorphism...
| Veröffentlicht in: | BioTechniques. - 1993. - (2022) vom: 30. Okt. |
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| Weitere Verfasser: | , , , , , , |
| Format: | Online-Aufsatz |
| Sprache: | English |
| Veröffentlicht: |
2022
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| Zugriff auf das übergeordnete Werk: | BioTechniques |
| Schlagworte: | Journal Article Review CNV DMD MLPA MLPA-based SMA SNP ligase-65 methylation |
| Zusammenfassung: | Multiplex ligation-dependent probe amplification (MLPA) is a multiplex copy number analysis tool which is routinely used to detect large mutations in genetic diseases. With continuous modifications, MLPA has been extended for the detection of DNA methylation variation, single nucleotide polymorphisms, chromosome abnormalities and other forms of genomic variation. The combination with other techniques has even enlarged the application of MLPA in molecular diagnostics of various human diseases. In this review, the principle of MLPA-based techniques as well as their main and latest applications in clinical detection are described. It is believed that with improved automation, increased multiplexing, lower cost and the combination with other technologies, MLPA will play an increasingly important role in molecular diagnosis of human disease |
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| Beschreibung: | Date Revised 16.02.2024 published: Print-Electronic Citation Status Publisher |
| ISSN: | 1940-9818 |
| DOI: | 10.2144/btn-2022-0017 |