Maria Demelza Bettin
Erasmus student / Erasmus student
Duplications and deletions are known to cause a large number of genetic disorders.
The size of DNA fragments that can be deleted or duplicated ranges from a single exon to entire chromosomes.
During my project I set up a new method (MAPH) for screening middle-size deletions/duplications that are more problematic to detect as they will be missed by both methods to detect small deletions, like PCR and sequencing, and by methods to detect large deletions/duplications, like cytogenetic techiniques.
The MAPH, multiplex amplification probe hybridisation, is based on the quantitative recovery of probes, after their hybridisation to immobilized DNA on a nylon filter.
Each probe is engineered to allow simultaneus amplification with only one set of primers with the advantages in that multiplexing numerous targets becomes much easier.
This technique offers a rapid mean of scanning deletions and is likely to be widely used in research and diagnostic settings.
The aim of my project is to optimize the condition of this method and validate the method using a sample material with known deletions.
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