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47 Cards in this Set
- Front
- Back
purines made from
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imp precursor
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pyrimidines made from _____ precursors, with ___ added later
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orotate precuros, with PRPP added later
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2 metabolic pathways of carbamoyl phosphate
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de novo pyrmidine synthesis and urea cycle
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hydroxyurea inhibits
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ribonucleotide reductase
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6-mp blocks
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de novo purine synthesis
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5-fu inhibits
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thymidylate synthase
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methotrexate inhibits
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dihydrofolate reductase
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trimethoprim inhibits bacterial
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dihydrofolate reductase
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ribonucleotide reductase converts
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ribonucleotides to deoxyribonucleotides
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otc deficiency leads to accumulation of
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carbamoyl phosphate
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orotic aciduria is inability to converts ____ to ____
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orotic acid to UMP (in the denovo pyrimdine synthesis pathway)
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inheritance of orotic aciduria
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AR
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tx for orotic aciduria
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oral uridine administration
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amount of ammonia in orotic aciduria
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normal.
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what is type 3 collagen?
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reticulin - skin, blood vessels, uterus, fetal tissue, granulation tissue
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what is type 2 collagen?
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cartilage (hyaline), vitreous body, nucleous pulposus
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six steps of collagen synthesis
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synthesis, hydroxylation glycosyation, exocyosis, proteolytic processing, crosslinking
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in crosslinking, what enzyme?
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lysyl oxidase.
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in hydroxylation, what aas are hydroxylated?
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proline and lysine
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in glycosylation, what residues?
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pro-alpha-chain lysine residues
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inheritane of osteogenesis imperfecta
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autosomal dominant
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type of collagen defect in osteogenesis imperfecta
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abnormal type I collagen
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alport's syndrome defect
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abnormal type 4 collagen.
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inheritance: alport's syndrome
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xlinked recessive
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elastin is rich in which amino acids
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proline and glycine, nonglycosylated forms
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marfan's syndrome is defect in
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fibrillin
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elastin resilient properties due to
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extensive dermosine crosslinking
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southern blot for
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dna
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northern blot for
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rna
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western blot for
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protein
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microarrays detect
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single nucleotide polymorphisms (snps)
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achondroplasia is defect of
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fibroblast growth factor receptor 3.
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ADPKD : bilateral or unilateral
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bilateral
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ADPKD is associated with mutation in
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apkd1 on chromsoome 16
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inheritance of ADPKD
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AUTOSOMAL DOMINANT
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Familial adenomatous polyposis occurs due to gene deletion on
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deletion of chromosome 5 (apc agene)
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hereditary spherocytosis due to defect of
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spectrin or ankyrin
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aorta problem in marfan's
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cystic medial necrosis of aort
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von hippel-lindau gene defect
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vhl gene (tumor suppressor) on chromosome 3 (3p)
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cystic fibrosis gene defect
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cftr gene on chromosome 7
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amino acid deletion in cystic fibrosis
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phe 508
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mutation in cystic fibrosis cuases what protein mutation
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abnormal protein folding, degradation of channel before reaching cell surface
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tx for cystic fibrosis
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n-acetycysteine. cleaves disulfide bonds within mucous glycoproteins
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duchenne's mutation
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xlinked frame-shift mutation. deletion of dystrohin gene.
dystrophin anchor muscle fibers. links actin to extracellular matrix. |
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duchenne's histology
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widespread muscle necrosis
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fragile x syndrome gene problem
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fmr1 gene.
problem with methylation and expression. trinucleotide repeat disorder. |
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charcot-marie-tooth problem
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problem with synthesis of myelin. decreased nerve conduction velocity.
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