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50 Cards in this Set
- Front
- Back
What are examples of permanent cells?
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Never leave G0; cardiac/skeletal muscle, RBCs, neurons
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Where does O and N linked glycosylation occur?
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N in the ER, O in the golgi
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What is the function of the RER?
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Production of secretory proteins and N-glycosylation (post translation modification).
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Name two cell types rich in RER.
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Plasma cells (antibiodies) and goblet cells (mucin)
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What is a Nissl body?
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RER in a neuron
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What is the function of free ribosomes?
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Creates cytosolic proteins
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What is the function of SER?
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Steroid synthesis and detoxification
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Name two cell types rich in SER.
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Adrenal cortex, hepatocytes
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Which COP protein is responsilbe for retrograde and anterograde vesicle transport?
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Retrograde = I, anterograde = II
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What is the function of the golgi apparatus?
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O-link glycsolyation on serine and theronine, mannose-6-phosphate addition to traffic to lysosomes
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What is the role of the clathrin coated vesicle?
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Transports vesicle from trans golgi to cell membrane / lysosome
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What is the role of the endosome?
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Sorting center for materials brought from outside the cell or from the golgi; sends back to the membrane or golgi for furhter use
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What is the role of the peroxisome?
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Alpha-oxidation of very long chain fatty acids and amino acid catabolism
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What is the role of the proteosome?
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Degrades ubiquitinated proteins
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Is tublin an ATPase or a GTPase?
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GTPase
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What composes microvilli, adherens junctions?
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Actin (and myosin)
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What composes cilia and flagella?
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Microtubules
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What is the intermediate filament for connective tissue? Muscle? Skin? Glial cells?
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Vimentin, desmin, cytokeratin, GFAP
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Does cholesterol increase or decrease fluidity of the plasma membrane?
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Decreases
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What is the most abundant protein in the body?
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Collagen
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Where is type I collagen found?
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Bone, skin, tendon, dentin, fascia, cornea, late wound repair
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Where is type II collagen found?
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Cartilage (including hyaline), viterous body, nucleus pulposus
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Where is type III collagen found?
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Skin, blood vessels, uterus, fetal tissue, granulation tissue
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Where is type IV colagen found?
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Basement membrane or basal lamina
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What vitamin is required for hydroxylation of collagen? In what organelle does it occur?
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Vitamin C; ER
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What is the typical collagen protein sequence?
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Gly-X-Y with X and Y usually being proline, hydroxyproline, and hydroxylysine
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What bond forms the collagen triple helix?
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Disulfide bonds and hydrogen bonds
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What steps of collagen synthesis happen inside the fibroblast? Outside?
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Inside the cell: synthesis of preprocollagen, hydroxylation and glycosylation, formation of procollagen triple helix; outside the cell: clevage of termianl procollagen to form insoluble tropocollagen, crosslinking to form fibrils
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What enzyme is responsible for cross linking of collagen in the ECF?
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Lysyl oxidase
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What enzyme is reponsible for preventing the degredation of elastin by elastase?
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Alpha-1 antitrypsin
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What is the purpose of PCR?
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Amplification of a desired dDNA fragment from a few copies to many
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How do you analyze PCR results?
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Gel electrophoresis
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What blot type is for DNA, RNA , protein, and DNA binding proteins?
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Southern, Northern, Western, Southwestern
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What HIV test is the screening test? The confirmatory test?
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ELISA is screening; Western is conformatory
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In a FISH probe, what does the absence of binding to a gene mean?
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Gene is absent (mutated)
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What is the purpose of siRNA?
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Small interfering RNA; promotes degredation of target mRNA
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What is a common example of codominance?
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ABO blod groups
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What is variable expression? What is a common example?
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Nature and severity of a phenotype varies from person to person; NF1
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What is incomplete penetrance?
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Not all individuals with a mutant genotype display the mutant phenotype
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What is pleiotropy? What is a common example?
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1 gene has > 1 effect on an individual's phenotype; ex. Marfan's syndrome
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What is imprinting?
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Differences in phenotype depend on whether mutation was of maternal or paternal origin
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What is anticipation?
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Severity of disease increases with successive generations
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What is loss of heterozygosity? What is a common example?
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If patient inherits mutation of tumor supressor gene, complementary gene must be deleted/mutated before cancer begins; Li-Fraumeni, retinoblastoma, BRCA breast/ovarian cancer, etc.
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What is a dominant negative mutation?
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The defective gene of the heterozygote prevents the proper expression of the normal gene's product
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What is linkage disequilibrium?
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Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance
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What is lyonization?
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Random X inactivation in females
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What is locus heterogenity? What is an example?
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Mutations at different loci and produce the same phenotype; Marfan's, MEN2B, and homocysti
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What is heteroplasmy?
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Presence of both normal and mutated mtDNA, resulting in variable expression of mitochondrial disease offspring of affected mother
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For an X-linked recessive disease, frequence of the disease in males and females is equal to what?
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Males = q, females = q^2
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What disease has a CGG, GAA, CAG, and CTG trinucleotide repeat?
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CGG: fragile X, GAA: Freidrich, CAG: huntington's, CTG: myotonic dystrophy
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