Applications in Molecular Diagnostics
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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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