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47 Cards in this Set

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