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20 Cards in this Set
- Front
- Back
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Lesch-Nyhan syndrome
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deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT); X-linked recessive; can't salvage hypoxanthine or guanine, increased de novo purine synthesis, increased uric acid production (= inheritable gout)
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DNA Pol III - direction of exonuclease
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3' -> 5' for proofreading
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DNA Pol I - direction of exonuclease
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5' -> 3' for replacing the RNA primer
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Xeroderma pigmentosum - defective process
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nucleotide excision repair - can't remove thymidine dimers
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HNPCC - defective process
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mismatch repair
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Enzyme inhibited by α-amanitin (in death cap mushrooms)
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RNA Pol II - synthesizes mRNA from DNA in eukaryotes
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Polyadenylation signal
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AAUAAA
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Signals involved in splicing
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EXON 1 GU --- A --- AG EXON 2
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Disorder associated with a mutation in alternate splicing
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β-thalassemia
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MOA of aminoglycosides
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inhibit formation of the initiation complex and cause misreading of mRNA
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MOA of chloramphenicol
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inhibits 50S peptidyltransferase
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MOA of macrolides
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bind 50S, blocking translocation
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MOA of clindamycin
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binds 50S blocking peptide bond formation
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I cell disease - clinical features
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coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes - usually fatal in childhood
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5 drugs that act on microtubules
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mebendazole/thiabendazole, griseofulvin, vincristine/vinblastine (vinca alkaloids), paclitaxel, colchicine
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Chediak-Higashi syndrome - clinical features
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recurrent pyogenic infections, partial albinism, peripheral neuropathy
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Vimentin - tissue stained
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connective tissue
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Desmin - tissue stained
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muscle
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Cytokeratin - tissue stained
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epithelial cells
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GFAP - tissue stained
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neuroglia
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