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n'existe pas dans la nature et se créé de façon accidentelle dans l'organisme. Elle est le résultat d'une translocation : un morceau du chromosome 9 et un morceau du chromosome 22 vont s'associer pour former un chromosome hybride appelé chromosome Philadelphie. au niveau des points de cassure et de recollage que se créé un gène dit « chimérique » : BCR (initialement sur le chromosome 22) fusionne avec ABL (initialement sur le chromosome 9) traduit en une tyrosine kinase active en permanence (non régulée). => active la division cell dans les précurseurs des globules blancs (lignée granuleuse=polynucléaires) dans la moelle osseuse ce qui envahit la moelle osseuse et va engendrer un cancer du sang (leucémie myéloïde chronique)
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