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Philadelphia chromosome |
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Philadelphia chromosome An abnormal chromosome that is found in patients with a chronic form of leukemia but not in PV patients. Mentioned in: Polycythemia Vera Philadelphia chromosome (Ph1) Etymology: Philadelphia, Pennsylvania a translocation of the long arm of chromosome 22, often seen in the abnormal myeloblasts, erythroblasts, and megakaryoblasts of patients who have chronic myelocytic leukemia. Philadelphia chromosome the 9:22 chromosomal translocation characterisitic of human patients with inherited predilection for chronic myelogenous leukemia. Philadelphia chromosome A small acrocentric chromosome from the distal long–q arm of chromosome 22, transferred to chromosome 9q[t(9;22)(q34;q11)] in 95% of CML; PC is present in 3 to 5% of childhood ALL–for whom prognosis is
poor, and 25% of adults Origin of PC Pluripotent stem cell, which generates myeloid, erythroid, megakaryocytic and lymphoid lines Molecular pathology Reciprocal translocation, with juxtaposition of the c-abl gene on chromosome 9 with a gene
of unknown function, with a bcr–breakpoint cluster region on chromosome 22; the resulting hybrid abl/bcr gene encodes P210bcr/abl, a phosphoprotein unique to CML that resembles v-abl, as it has disregulated
protein-tyrosine kinase activity Management High-dose chemotherapy, BMT. See P210bcr/abl. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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