Philadelphia Translocation Research Paper

Genetic Disorders are medical conditions that are caused by an error in a person’s genes. Some genetic disorders appear as birth defects, while others do not become distinct until later in life. They can rage from terminal to mild. Scientists have distinguished more that 9,000 genetic disorders, some of which are exceptionally rare while others are common. One such genetic disorder is Philadelphia Translocation, a possibly terminal and relatively rare genetic disorder (fewer than 200,000 people in the U.S. per year are diagnosed). Named for the city where it was discovered, the Philadelphia chromosome is thought to be acquired after birth and is formed when two chromosomes (9 and 22) switch some of their gene material forming a new chromosome. …show more content…
The 23rd pair of chromosomes determines the sex. If the organism is female like the karyotype in question it will have an XX pair. Philadelphia Translocation can be diagnosed by evaluating the karyotype of the patient. The patient in question has Philadelphia Translocation because chromosome 22 is shortened while chromosome 9 has been lengthened, indicating that translocation has occurred.

Philadelphia Translocation was discovered in Philadelphia in 1960. It was the first consistent chromosome abnormality found in any kind of malignancy. The discovery led to the identification in CML cells of the BCR-ABL fusion gene and the protein that corresponds with it. The ABL gene encodes a tyrosine kinase enzyme that is highly regulated. In Ph translocation, two fusion genes are formed. The BCR-ABL gene on the Ph chromosome encodes for a protein with deregulated tyrosine kinase