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Schiavo, Andrea Alex (2009) Efficiency of antisense-mediated exon skipping in normal and mutated DMD genes. [Laurea specialistica biennale]

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Abstract

In questo lavoro di tesi si è andati ad indagare l’efficacia di alcuni oligonucleotidi antisenso progettati per escludere alcuni esoni da sequenze “sane”. Le cellule dei pazienti utilizzate in questo lavoro invece presentano molte variazioni a livello di delezioni/mutazioni nel trascritto e si è voluto verificare l’applicabilità degli AO ad un contesto “mutato”. Le cellule dei pazienti sono state derivate da biopsie depositate nella banca di campioni bioptici di Telethon a Milano (in collaborazione con l’istituto Besta di Milano), mentre quelle dei donatori sani dalla banca Telethon di Padova (in collaborazione con la Dott.ssa M. Fanin). Sono stati impiegati oligonucleotidi 2’-O-metil-fosforotioati modificati, sintetizzati in collaborazione con il laboratorio del Dott. S. J. Wilton. Per fare questo si sono trasfettati dei mioblasti di pazienti in coltura per introdurre le molecole nelle cellule e consentire lo skipping. Sono inoltre state effettuate prove di verifica della presenza di distrofina tramite immunofluorescenza.

Tipologia del documento:Laurea specialistica biennale
Corsi di Laurea specialistica biennale:Facoltà di Scienze MM. FF. NN. > Biologia evoluzionistica
Parole chiave:DMD, Exon skipping, Primary myoblasts, Transfection, Dystrophyn
Settori scientifico-disciplinari del MIUR:Area 05 - Scienze biologiche > BIO/13 Biologia applicata
Codice ID:24296
Relatore:Vitiello, Libero
Data della tesi:2009
Biblioteca:Polo di Scienze > CIS "A. Vallisneri" - Biblioteca Biologico Medica
Tipo di fruizione per il documento:on-line per i full-text
Tesi sperimentale (Si) o compilativa (No)?:

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