Philadelphia Chromosome

: Philadelphia Chromosome

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Philadelphia Chromosome

Philadelphia chromosome is a chromosomal abnormality (defect in the fine thread like structures present within the cell that carry genetic information ) in which the long arm of Chromosome 9 gets swaps places (translocated ) with the long arm of Chromosome 22 . This mutation (gene in gene sequences ) was discovered by scientist in the city of Philadelphia in the 1960 's . The chromosome 22 becomes excessively short , whereas the Chromosome 9 becomes excessively long (Mayo , 2006

90 to 95 of the individuals with Chronic Myeloid leukemia (CML have Philadelphia Chromosome in the cells of the bone marrow (Keatings M . J , 2000 . About 30 to 40 of the adults with acute Lymphocytic Leukemia and about 3 to 5 of the children with Acute Lympoblastic Leukemia (ALL ) had the Philadelphia Chromosome (DeVita , 2001 . The survival rate of children with ALL having the Philadelphia Chromosome is especially poor compared to those without the chromosome (Silverman 2000 . The Chromosome 22 Long arm appears shortened , and 60 of the normal DNA Nucleic Acids present in the q34 region of the long arm of Chromosome 9 is broken and translocated to Chromosome 22 (Keatings , M J , 2000 . The portion of the Chromosome 9 that is transferred is known as `Abelson (ABL ) and the area to Chromosome 22 that it is transferred to be known as `Breakpoint Cluster Region (BCR . As a result , a fused ABL /BCR gene is produced which expresses the protein Tryrosine kinase abnormally . The production of the new blood cells is dised in the bone marrow resulting in uncontrollable multiplication of the blood cells (NCI , 2007 . Philadelphia chromosome is present in the erythroid myeloid , monocytic and megakaryocytic group of cells . It less frequently occurs in the B and T lymphocytes , and is also absent in the bone marrow fibroblasts . The ABL /BCR genetic sequence has a molecular weight of 210000 KD which is a hybrid form (Keatings , M . J , 2000 Frequently molecular techniques are utilized to demonstrate the presence of the Philadelphia Chromosome in individuals with CML . The most sensitive technique presently accessible is the Reverse Transcriptase-Polymerase Chain Reaction (or RT-PCR (NCI , 2007

The Philadelphia Chromosome is frequently utilized in predicting the prognosis in individual affected with CML . In the 1970 's , individuals who were Philadelphia Chromosome...