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34 Cards in this Set
- Front
- Back
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orotic aciduria
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inability to convert orotic acid to UMP in dinovo pyrimidine synthesis. defect in orotic acid phosphoribosyltransferase or orotidine 5'phosphate decarboxylase, autosomal recessive.
Finding: increase orotic acid in piss, megaloblastic anemia that does not improve w/ B12or folic acid, failure to thrieve. no hyperammonemia(along w/ orotic acid in OTC) Treat w/ oral uridine |
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hyperammonemia
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too much ammonia in the blood. may cause encephalopathy.
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Adenosine deaminase deficiency
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too much ATP and dATP--> blocks ribonucleotide reductase--->no DNA synthesis--> low lymphocyte count --> may cause SCID
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Lesch Nyhan syndrome
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Can't recycle guanine to GMP or hypoxanthine to IMP --> too much Xanthine--> too much uric acid
HGPRT deficiency, X-linked recessive. |
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xeroderma pigmentosum
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dry skin with melanoma and other cancers, (children of the night).
prevent repair of thymidine dimers. mutation in repnucleotide excision repair mechanism |
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hereditary nonpolyposis colorectal cancer
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enzymes involved in mismatch repair
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fluoroquinolones
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inhibition of DNA gyrase(prok. topo)
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stop codon
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UGA, UAA, UAG
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RNA pol I
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mRNA
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RNA pol II
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mRNA, also initiation for DNA replication
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RNA pol III
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tRNA
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processing
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1.CAP
2.Tail 3.Splice |
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tRNA charging
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use aminoacyl-tRNA and ATP to charge, one for each AA.
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Tetracycline
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30s binding, prevent tRNA attachment.
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aminoglycosides
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inhibition of initiation complex and cause misreading of mRNA
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Chloramphenicol
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inhibit 50s peptidyltransferase
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macrolides
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50S blocks translocation
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Clindamycin
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50s blocks translocation
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How many phosphate bondes for translation
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charging: ATP --> AMP
Loading tRNA to ribo: GTP -->GDP Translocation: GTP-->GDP |
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N oligosaccharides
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modification of asparagine in Golgi
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O oligosaccharides
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modification of serine and threonine in Golgi
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mannose 6 phosphate
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addition to lysosomal protein.
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I cell disease
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failure to add mannose 6 phosphate. enzymes secreted outside of the cell. coarse facial features, clouded corneas, restricted joint movement, and high plasma concentration of lysosomal enzyme. often fatal in childhood.
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microtubule
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dimerized a b tubulin, each w/ 2 GTP. found in flagella, cilia, mitotic spindle <--- suppression means no mitosis.
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Drugs that act on microtubules
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Mebendazole/thiabendazole (antihelminthic)
Griseofulvin(anti fungal) Vincristine/vinblastine(anti cancer) Colchicine(anti-gout) |
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Chediak-higashi syndrome
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microtubule polymerization defect
can't phagocytose. recurrent pyogenic infection, partial albinism and peripheral neuropathy<----cellular transport! |
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Dynein
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retrograde to microtubule
+ ---> - |
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Kinesin
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antegrade to microtubule
- ----> + |
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pyogenic
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bacterial infection that makes pus
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axonemal dynein
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ATPase found in 9+2 cilia
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kartagener's syndrome
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dynein arm defect---> infertility, bronchiectasis, recurrent sinusitis, and situs inversus!!
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Vimentin
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connective tissues
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Desmin
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Muscle
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Cytokeratin
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Epithelial cells
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