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Schematic of the Philadelphia chromosome formation The chromosomal defect in the Philadelphia chromosome is a reciprocal translocation , in which parts of two chromosomes, 9 and 22, swap places. The result is that a fusion gene is created by juxtaposing the ABL1 gene on chromosome 9 (region q34) to a part of the BCR (breakpoint cluster region ...
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The first fusion gene [1] was described in cancer cells in the early 1980s. The finding was based on the discovery in 1960 by Peter Nowell and David Hungerford in Philadelphia of a small abnormal marker chromosome in patients with chronic myeloid leukemia—the first consistent chromosome abnormality detected in a human malignancy, later designated the Philadelphia chromosome. [3]
It shows 22 homologous autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes, as well as the mitochondrial genome (at bottom left). In genetics, a chromosomal rearrangement is a mutation that is a type of chromosome abnormality involving a change in the structure of the native chromosome. [1]
This abnormal chromosome was dubbed the Philadelphia chromosome - as both scientists were doing their research in Philadelphia, Pennsylvania. Thirteen years later, with the development of more advanced techniques, the abnormal chromosome was shown by Janet Rowley to be the result of a translocation of chromosomes 9 and 22. Identification of the ...
A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia.The chromosome 22 breakpoint for this translocation is located within the BCR gene.
This image is a derivative work of the following images: File:Philadelphia_chromosome.jpg licensed with Cc-by-sa-2.5,2.0,1.0, Cc-by-sa-3.0-migrated, GFDL . 2007-01-16T00:35:50Z A Obeidat 401x211 (10412 Bytes) Philadelphia Chromosome Translocation
The schematic karyogram in this section is a graphical representation of the idealized karyotype. For each chromosome pair, the scale to the left shows the length in terms of million base pairs, and the scale to the right shows the designations of the bands and sub-bands.