(8) 7 points A patient is diagnosed with acute myeloid leukemia (AML). You want
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(8) 7 points A patient is diagnosed with acute myeloid leukemia (AML). You want to determine if she has a translocation, since translocations are often seen in leukemias A. List two methods you can use to determine whether the patient has a translocation. (2 points) Using these methods, you determine that the patient has a heterozygous reciprocal translocation between chromosomes 5 and 14 that creates a fusion between the 5' regulatory region and the first half of the gene CEV14 and the second half of the gene PDGFR and its 3' regulatory region. The translocation is not found in non-leukemic cells. B. In what cells was the translocation likely to arise? (1 point) You wish to determine whether the CEV14-PDGFR fusion is driving the leukemic phenotype. You transfect DNA encoding the fusion into non-cancerous cells growing in culture. The transfected cells develop a cancerous phenotype. C. Based on this result, could the CEV14-PDGFR fusion be functioning as an oncogene? If so, what kind of morph could it be? Could it be functioning as a tumor suppressor? If so, what kind of morph could it be? (4 points)Explanation / Answer
The conventional method to detect translocations include: Souther blotting, Floroscent insitu hybridization (FISH), Inverse PCR or long range PCR. These days Whole genome sequencing and Next generation sequencing are also used.
The PDGFR mutations are often associated with GI tract cancers. The most common cells tpes are myeloid and lymphoid neoplamas.
This fusion gene is coding for some protein which is increasing the phenotype causing cancer. This is a case of oncogene. This is called Neomorph.
There are different classification of genes coined by Muller. A loss of function can be amorph and hypomorph. Gain of function mutation can be hypermorph, neomorph and antimorph.
It is not acting as tumor suppressor gene, as the transfected cells are developing cancer.
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