Philadelphia Chromosome


  • Reciprocal translocation of short arm of chromosome 9 onto chromosome 22

  • resulting (small) chromosome 22 referred to as Philadelphia chromosome

  • characteristic of Chronic Myeloid Leukaemia

  • bring BCR region of chromosome 9 next to ABL region of 22.

  • BCR-ABL fusion protein is a constitutively active tyrosine kinase

  • this drives cell cycle

 

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