Applications in Molecular Diagnostics
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show | short arm
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What is 'q' in chromosome nomenclature? | show 🗑
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show | regions, bands and subbands seen when staining the chromosome with a staining dye
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show | molecular genetics
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The Southern blot is sensitive and specific for determining B-cell and T-cell clonality (T/F) | show 🗑
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show | True
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show | cell suspensions or frozen sectins prepared from tissues such as lymph node, spleen or cell suspensions prepared from peripheral blood speciments, bone marrow aspirates, body fluids, and fine-needle aspirates.
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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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show | the kappa light chain joining segment
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The J[subscript]6 probe recognizes what? | show 🗑
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show | 2
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Approx # of micrograms of DNA required for T- and B-cell clonality Southerns | show 🗑
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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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Non-Hodgkin's Lymphomas are especially suited for analysis by _____ b/c of a # of recurrent, non-random chromosomal aberrations, grouped as 1) molecular translocations, 2) numberical chromosomal aberrations and 3) gene deletions. | show 🗑
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centromeric probes in FISH can be used to detect ________ chromosomal aberrations | show 🗑
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show | Cells do not need to be proliferated for FISH. Low mitotic rate of indolent or low-grade NHL is not a problem for FISH.
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show | p53
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show | True
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show | C-MYC
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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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show | It is in the BCL1 locus and its exon uninterrupted with translocated to 14q32. It serves drive the progression from G1 to S and drives cells to proliferate when it comes under control of the immunoglobulin regulatory sequences.
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show | common
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show | BCL-6, a zinc finger transcription factor than normally is expressed in germinal center B-cells.
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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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show | immunoglobulin or T-cell-receptor gene loci.
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Hodgkin's lymphoma accounts for __ % of lymphomas in the US | show 🗑
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show | Reed-Sternberg cells (RS cells) and Reed-Sternberg variants (RS variants)
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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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Monoclonal neoplasms that arise as a result of acquired mutations in hematopoietic progenitor cells | show 🗑
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show | acute myeoloid leukemia (AML, 10,000/y in US) chronic lymphocytic leukemia (CML, 8,000/y in US) chronic myelogenous leukemia (CML, 4500) acute lymphoblastic leukemia (ALL, 3100)
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show | bcr-abl
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show | dominant
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classical tumor suppressor genes have a dominant or recessive effect? | show 🗑
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show | 50 structurally related G proteins
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K-ras and h-ras are cellular oncogenes evolutionarily related to the ______________, respectively | show 🗑
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Mutations of ras genese are most commonly _____ ________ that result in gene activation | show 🗑
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many types of _________ leukemia can have ras gene mutations | show 🗑
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show | myelomonocytic
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show | acute lymphoblastic leukemia
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show | acute lymphoblastic leukemia
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show | ras, p53
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show | Rb
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show | ras
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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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show | p53
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show | partial tandem duplication
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show | Acute myeloid leukemia (AML)
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show | acute promyelocytic leukemia
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APL: commonly caused by a fusion of which two genes? | show 🗑
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chromosomal translocations in AML usually affect only one allele and are dominant (True/False) | show 🗑
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EGFR stands for | show 🗑
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show | colorectal
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show | epidermal growth factor receptor
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show | epidermal growth factor receptor
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show | cetuximab and panitumumab
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show | An inversion of chromsome 16 at the short arm band 13 and long arm band 22. Commonest abnormality assoc'd with AML w/ abnormal bone marrow eosinophils.
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What does t(16,16)(p13q22) refer to? | show 🗑
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CML is caused by what translocation? | show 🗑
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show | bcr and the murine leukemia viral oncogene homolog 1 (abl)
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show | False
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show | False
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show | an ATP analog that binds the tyrosine kinase domain of abl.
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CML: common mechanism for resistence to imatinib mesylate | show 🗑
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monocyte develops into a ____________ | show 🗑
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show | acute lymphoblastic leukemia
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show | pre-B-cells and pre-T-cells
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CLL stands for | show 🗑
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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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effect of molecular alterations cancer | show 🗑
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somatic mutation in cancer | show 🗑
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tumor cells are highly prone to mutation (True/False) | show 🗑
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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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