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Etudes moléculaire et cellulaire du gène cftr by Collectif

Etudes moléculaire et cellulaire du gène cftr

by Collectif
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Book cover type: Paperback
  • ISBN13: 9783838182049
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Univ Europeenne
  • Publisher Imprint: Univ Europeenne
  • Publication Date:
  • Pages: 196
  • Original Price: GBP 47.0
  • Language: French
  • Edition: N/A
  • Item Weight: 295 grams
  • BISAC Subject(s): Life Sciences / Genetics & Genomics

La mucoviscidose est la maladie génétique grave à transmission autosomique récessive la plus fréquente dans les populations d'origine européenne. L'objectif de nos travaux est de comprendre l'impact des mutations du gène CFTR afin d'établir un conseil génétique avisé. Pour cela, nous avons dans un premier temps déterminé quelles sont les mutations présentes sur l'exon 9 du gène. A cause de la présence de copies de cette région, nous avons établi de nouvelles conditions expérimentales pour étudier exclusivement le gène, et ainsi deux pseudomutations ont été détectées. Dans un second temps, nous avons étudié trois allèles complexes contenant des mutations fréquentes de CFTR (D443Y, G576A, R668C) et une mutation rare, G149R. In vitro nous avons mis en évidence l'effet délétère de G149R seule ou en complexe, et la diminution de la quantité de la protéine mature lorsque les autres allèles complexes sont présents. Dans la dernière partie de ce travail, nous avons mis en place au laboratoire les techniques d'étude de l'épissage. Pour cela, nous avons construit un minigène hybride qui nous permet de définir le rôle exact des substitutions nucléotidiques sur l'épissage alternatif.

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