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Applications in Molecular Diagnostics

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Question
Answer
show short arm  
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show long arm  
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What is # following 'p' or 'q' in chromosome nomenclature?   show
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show molecular genetics  
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show True  
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Fresh or frozen specimens (rather than fixed) are preferrable for Southern analysis (T/F)   show
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Optimal specimens for Southern blot B- and T-cell clonality include...   show
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show Nucleic acid extraction, restriction fragment analysis, electrophoresis/transfer, probe with TCRBC (T-cell) or J[subscript]K or -6(B-cell) probe.  
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The J[subscript]K probe recognizes what?   show
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The J[subscript]6 probe recognizes what?   show
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The finding of at least _ novel bands is indicative of a clonal T-cell gene rearrangement (syndrome could be T-cell lymphoproliferative disorder)   show
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show 30 micrograms  
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Advantages of PCR over Southerns for T- and B-cell clonality assessments   show
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Advantages of Southerns over PCR for T- and B-cell clonality assessments   show
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Polyclonal B-cell rearrangements result in a single band on a gel post PCR with a V[subscript]H and J[subscript]H primers. (T/F)   show
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show FISH  
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centromeric probes in FISH can be used to detect ________ chromosomal aberrations   show
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FISH offers what primary advantage over cytogenetics in diagnosis leukemia/lymphoma   show
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The most frequently mutated gene in human cancers (a tumor suppressor gene)   show
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show True  
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NHL: Most common translocation in Burkitt lymphoma is a t(8;14)(q24;q32) which results in the translocation of _-___ to the B-cell heavy-chain gene locus   show
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show BCL-2  
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NHL: Mantle cell lymphoma is usually t(11;14)(q13;q32) involving BCL-1 which stands for __ and the immunoglobulin heavy-chain gene locus on chromosome 14q32.   show
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NHL: 3 different settings of Burkitt's Lymphoma   show
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NHL: Cyclin D1, associated with Burkitt's Lymphoma, does what?   show
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NHL: Diffuse large B-cell lymphoma is one of the more common/uncommon lymphomas in Western countries   show
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NHL: Diffuse large B-cell lymphoma involves ___-_ proto-oncogene   show
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show a gene normally involved in the regulation of a variety of processes including the cell growth, proliferation, differentiation and apoptosis.  
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In reciprocal translocations in NHL, a proto-oncogene is translocated with either the ______   show
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show 14%  
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Hodgkin's lympoma is established based on the morphologic identificatin of neoplastic _______________ and ________________in the appropriate benign inflammatory cell b/g.   show
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show The RS cells and RS variants comprise only a small (1-2%) %-age of the cells in a tissue sample. PCR does not help b/c monoclonality is not a condition for Hodgkin's lymphoma.  
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minimal residual disease   show
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show leukemia  
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4 broad groups of leukemias in order of incidence rate   show
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chromosomal translocation responsible for CML   show
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classical oncogenes have a dominant or recessive effect?   show
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show recessive  
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show 50 structurally related G proteins  
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show Kirsten and Harvey murine sarcoma viruses  
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Mutations of ras genese are most commonly _____ ________ that result in gene activation   show
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show myeloid  
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ras mutations are most common in chronic _________ leukemia   show
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show acute lymphoblastic leukemia  
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ALL stands for   show
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show ras, p53  
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show Rb  
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40 - 50% of chronic myelomonocytic leukemia have ___ mutations   show
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show ras  
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10 - 20% of aggressive myelodysplastic syndrome have __ mutations   show
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show ras  
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6% of AML cases have __ point mutations   show
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show partial tandem duplication  
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show Acute myeloid leukemia (AML)  
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APL stands for   show
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show promyelocytic leukemia (pml) and retinoic acid receptor alpha (rar alpha)  
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show True  
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EGFR stands for   show
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The epidermal growth factor signaling pathway is commonly up-regulated in ________ cancer   show
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cetuximab and panitumumab are monoclonal antibodies to ______ ______ ______ _______   show
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KRAS and BRAF act downstream of _______ ______ _______ _______ in colorectal cancer   show
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Colorectal cancer: Mutations in KRAS and BRAF are predictive of a lack of response of colorectal cancer to _________ and _________   show
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What does inv(16)(p13q22) refer to?   show
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show translocation between 2 chromosome 16's. A more rare abnormality assoc'd with AML w/ abnormal bone marrow eosinophils.  
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CML is caused by what translocation?   show
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What genes are fused to cause CML?   show
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abl is a tumor suppressor gene (True/False)   show
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show False  
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imatinib mesylate (a drug used vs CML)   show
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CML: common mechanism for resistence to imatinib mesylate   show
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show macrophage  
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ALL   show
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ALL cells can be subdivided into __-_-___ and __-_-___   show
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show chronic lymphocytic leukemia  
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CLL is the most common type of ________ in adults   show
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show chromosomal abnormalities and nuleotide sequence abnormalities  
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show changes in gene expression  
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show refers to an acquired (non-germline) mutation  
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show True  
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The accumulation of genetic abnormalities reflects the progression of tumorigenesis (True/False)   show
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Activation of proto-oncogene function can be achieved by mutations (_-___) or by translocation (_-___)   show
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show ladderlike banding apttern or a one-repeat unit expansion or contraction  
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