Chronic myeloid leukemia (CML) is a genetic disorder associated with the Philadelphia chromosome. The Philadelphia chromosome is a mutation in chromosome 22. Part of chromosome 22 is exchanged with part of chromosome 9, bringing together two genes on chromosome 22 and causing a malignancy. What type of mutation occurs in the Philadelphia chromosome?

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The mutation in Philadelphia chromosome is a translocation, identified as, t(9;22)(q34;q11). This abnormal chromosome has a fusion gene, consisting of the ABL gene and the BCR gene, producing the BCR-ABL oncogene. This oncogene produces an enzyme that has a constitutive, abnormal tyrosine kinase activity. The existence of this fusion gene is necessary and sufficient for the generation of leukemia.