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Etude Moléculaire de la Globozoospermie Pour 10 Patients Tunisiens by Oueslaty-M

Etude Moléculaire de la Globozoospermie Pour 10 Patients Tunisiens

by Oueslaty-M
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Book cover type: Paperback
  • ISBN13: 9783841731029
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Omniscriptum
  • Publisher Imprint: Omniscriptum
  • Publication Date:
  • Pages: 88
  • Original Price: GBP 30.0
  • Language: French
  • Edition: N/A
  • Item Weight: 141 grams
  • BISAC Subject(s): Life Sciences / Genetics & Genomics

La globozoospermie est une tératozoospermie rare mais sévère. Elle est définie par la présence de spermatozoïdes à tète arrondie dépourvue d'acrosome. Elle est l'illustration d'un défaut du processus de spermiogenèse. Récemment, un gène localisé sur le chromosome12 a été décrit comme étant le gène principal de la globozoospermie. Une délétion de 200Kb a été décrite chez un grand nombre de patients porteurs d'une globozoospermie. Nous nous sommes proposés dans la présente étude, de collecter les données épidémio-cliniques et génétiques des patients atteints de globozoospermie et de rechercher si d'autres patients Tunisiens étaient porteurs d'une large délétion du gène DPY19L2. Nous avons trouvé que le gène DPY19L2 est présent chez au moins deux patients suggérant que la pathologie n'est pas liée à ce gène ou bien qu'il y a d'autres mutations ponctuelles. Cette étude constitue la première caractérisation moléculaire du gène DPY19L2 en Tunisie. Nous envisageons en perspective de continuer l'exploration du gène DPY19L2 (recherche de mutations ponctuelles et délétions partielles). Ceci est une indication majeure pour effectuer un diagnostic moléculaire efficace.

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