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34 Cards in this Set
- Front
- Back
- 3rd side (hint)
DNA base w/ a ketone
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guanine
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DNA base w/ a methyl
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thymine
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Deamination of cytosine forms...
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uracil
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Amino acids used in purine synthesis
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Glycine, aspartate, glutamine
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Hydroxyurea MOA
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inhibits ribonucleotide reductase
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Orotic aciduria defective enzymes
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orotic acid phosphoribosyltransferase or orotidine 5'-phosphate decarboxylase
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Exceptions to universal genetic code
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mitochondria, archaebacteria, mycoplasma, and some yeasts
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Eukaryotic equivalent of Primase
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DNA poly alpha
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Eukaryotic equivalent of DNA polymerase III
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DNA poly delta
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Eukaryotic equivalent of DNA polymerase I
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DNA poly beta
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Synthesis of protein
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from N to C direction
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RNA polymerase components in Prokaryotes
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alpha binds regulatory units, Beta has polymerase activity, sigma binds promotors
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Function of 5' cap
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protect from ribonucleases
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Function of 3' cap
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protect from 3'->5' exonucleases
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Antibodies against snRNPs
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anti-smith Ab seen in lupus
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MOA of chloramphenicol
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inhibits 50S peptidyltransferase
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N-linked oligosaccharide addition occurs where?
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Rough endoplasmic reticulum
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N-oligosaccharides are then modified in the golgi apparatus
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Cyclin A-CDK2
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sustains S-phase, ensuring DNA is replicated
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cyclin B-CDK1
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regulates entry into M-phase
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Cyclin D-CDK4
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inactivates Rb protein, allowing cyclin E to be made
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Cyclin E-CDK2
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pushes cell into S-phase
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inhibited by p21, a gene product of p53
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COPI vs. COPII
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retrograde vs. anterograde, respectively
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Clathrin mediates trans-Golgi to lysosomes or plasma membrane to endosomes
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Immunohistochemical stain for endothelium
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CD34, vWF
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Types of collagen
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I: bone, skin, tendon, dentin, fascia, cornea, late wound repair. II: cartilage, vitreous body, nucleus pulposus. III (reticulin): skin, blood vessels, uterus, fetal tissue, granulation tissue. IV: basement membrane, lens of eye
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Ehlers-Danlos syndrome
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Type III collagen defect
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Sx: hyperextensible skin, tendency to bleed, hypermobile joints. Associated w/ joint dislocation, berry aneurysms, organ rupture
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Osteogenesis imperfecta
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Autosomal defect in type I collagen (type II is fatal in utero)
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Tx: bisphophonates
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Elastin
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compared to collagen, it has less proline and lysine residues that are hydroxylated, no triple helix is formed
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elastin's plasticity and abiliyt to recoil upon release of tension is due to desmosine crosslinking between lysine residues on different chains (crosslinking is done by lysyl hydroxylase)
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RISC (RNA-induced silencing complex)
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once siRNA binds to complementary mRNA, RISC breaks it down
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Pleiotropy
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1 gene has more than 1 effect on an individuals phenotype
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Mosaicism
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germ-line mosaic, where germ cells have different genetic makeup than the parents somatic cells.
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This may produce disease in children that is not seen in parents
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Locus heterogeneity
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Mutations at different gene loci can produce the same phenotype
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Marfan's syndrome, MEN2B, homocystinuria all cause marfanoid habitus. Albinism is another example
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Uniparental disomy
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can cause prader-willi and angelman's sndrome
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Phenotypic heterogeneity
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mutations in the same gene can lead to different phenotypes
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Allelic heterogeneity
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different mutations in same gene can lead to similar phenotype
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don't confuse with locus heterogeneity. Locus is different gene, same phenotype. Allelic is same gene, same phenotype.
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