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67 Cards in this Set
- Front
- Back
inhibits ribonucleotide reducase, causing build up of UDP
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hydroxyurea
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blocks de novo purine synthesis
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6MP
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inhibits thymidylate synthase, causing decreased dTMP
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5FU
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inhibits dihydrofolate reductase, causing decreased dTMP
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methotrexate
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inhibits bacterial dihydrofolate reductase, causing decreased dTMP
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trimethoprim
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increased orotic acid in urine, and megaloblastic anemia that doesn't get better with b12 or folic acid.
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orotic aciduria, due to defect in orotic acid phosphoribsyltransferase, or orotidine 5'-phosphate decarboxylase -- distinguish from OTC deficiency by checking ammonia levels (OTC deficiency will have hyperammonia)
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defective purine salvage pathway, leading to excess uric acid and de-novo purine synthesis. patient will have mental retardation, self mutilation, gout, choreoathetosis, and hyperuricimia
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lesch-nyhan syndrome - x linked recessive disorder due to lack of HGPRT
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diff between DNA pol 1, and DNA pol 3
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3 - elongates leading strand of prokaryotes, has 3'-5' exonuclease activity.
1 - degredation of RNA primer with 5'-3' exonuclease activity, and fills in gaps on lagging strand. |
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how are thymidine dimers caused by UV light repaired? what disease is it defective in?
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repaired by nucleotide excision repair by endonucleases. mutated in xeroderma pigmentosum
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how are spontaneous/toxic demamination repaired?
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base excision repair
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what is the DNA repair defect in HNPCC?
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mismatch repair
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what is the defect in ataxia-talangiectasia?
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nonhomologous end joining, ATP binding cassete
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where does RNA pol bind? (promotor/enhancer/etc)
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promotor - must be upstream of the gene
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where do transcription factors bind?
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promotor OR enhancer. enhancer can be upstream or downstream.
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which type of RNA pol does alpha amantin inhibit (toxin found in death cap mushrooms)
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RNA pol 2 - which makes mRNA
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what end is the cap on, what end is the polyA tail on?
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cap is on 5', tail is on 3'
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in the lac operon, what does glucose decrease? leading to what downstream effect? what does lactose bind to? what is the main protein product of the lac operon?
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glucose inhibits cAMP, which is needed to activate CAP which binds to the CAP binding site, and HELPS RNA pol bind to promotor. Lactose binds to the repressor, which otherwise would have bound to the promotor to bind RNA pol, and to the operator. Main product is B-galactosidase, which converts lactose into glucose and galactose.
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what antibiotic prevents attachment of aminoacyl-tRNA to the 30s protein?
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tetracycline
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what prevents formation of the initiation complex and causes misreading of the mRNA on the 30s protein?
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aminoglycosides
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what prevents the 50s peptidyltransferase from acting?
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chloramphenicol
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what two antibiotics prevent peptide bond formation?
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clindamycin and chloramphenicol
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what are the permanent cells that always remain in G0?
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neurons, RBCs, cardiac myocytes, and skeletal muscle
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what can RER add to proteins?
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N-linked oligosaccharides
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To what protein does the gogli add O-oligosaccharides on? on what protein does it MODIFY n-oligosaccharides?
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Adds O-oligo to serine and threonine, and modifies the N-oligo on asparagine.
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What disease do you have inherited lysosomal storage disorder characterized by failure of addition of mannose-6-phosphate to proteins targeted for lysosomes?
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I-cell disease - patient will have coarse facial features, clouded corneas, and restricted joint movements.
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what is the difference between dynein and kinesin?
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both are microtubule related, dynein carries things retrograde to microtubule, so plus end to minus end (so towards the nucleus). kinesin does it anterograde, from the minus end to the plus end (so away from nucleus).
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what defect causes dynein arm problems, leading to situs invertus, bronchiectasis, recurrent sinusitis, and infertility?
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kartagener's syndrome
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list the collegen types, and defects/important facts associated with them
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1 - bone, skin, tendon, cornea - osteogenesis imperfecta
2 - cartilage - stain with safranin O 3 - blood vessels - defective in EDS 4 - basement membrane - defective in alports syndrome |
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ostegenesis imperfecta questions.
what type is fatal in utero? why do you have dental imperfections? |
type 2 fatal, dental imperfections because type 1 col makes dentin which is a component of teeth.
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what 3 organ systems can alport's involve?
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kidney, causing nephritis. eyes - causing occular disturbances, and ears, causing deafness.
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what does SNoW DRoP mean to you?
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southern, northern, western blot, looks for:
DNA, RNA, Protein. Use southwestern blot for DNA binding protein such as transcription factor. |
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example of codominance?
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blood groups
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does loss of heterozygosity refer to tumor suppressors or oncogenes?
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tumor suppressors only! oncogenes have bad outcomes with even just 1 mutation
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if patient has no active chromosome 15, what disease is this: mental retardation, hyperphagia, obesity, hypogonadism, and hypotonia.
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this is prader willi, where the patient has an already inactive MATERNAL, and PATERNAL also gets inactivated after.
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if patient has no active chromosome 15, what disease is this: laughing all the time, mental retardation, seizures, and ataxia.
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angelmans. patient already has inactive PATERNAL, and then MATERNAL gets inactivated.
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what form of dominance is the disease characterized by telangiectasia, recurrent epitaxis, skin discolorations, and ateriovenous malformations?
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autosomal dominant - hereditary hemorrhagic telangiectasia - aka osler-weber-rendu syndrome
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what does CFTR normally do with Chloride?
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in sweat, it normally reabsorbs it (which is why the sweat test checks for chloride), and in liver, lung, and pancreas it normally secretes it!
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what type of mutation is observed in duchenne's muscular dystrophy?
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x-linked recessive FRAMESHIFT.
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what is this referring to? X-girlfriends, first aid, helped ace my test
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trinucleotide repeats and the middle letter of the repeat
X - fragile X (CGG) F - fredrich's ataxia (GAA) H - huntingtons (CAG) M - Myotonic Dystropy (CTG) |
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where is the deletion in william's disease? features are extreme friendliness, elfin facies, hypercalcemia
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chromosome 7, microdeletion of region containing elastin gene.
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what are the two drugs that can act on ethanol metabolism?
What drugs cause disulfaram like reaction> |
fomepizole (inhibits alcohol dehydrogenase), and disulfaram (inhibits acetylaldehyde dehydrogenase)
The following drugs cause DLR: metro, 1st generation sulfonylureas, procarbazine, and certain cephalosporins. |
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what happens to the NADh/NAD ratio in alcoholics?
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NADH/NAD is severely increased, causing the following diversions:
Pyruvate to lactate, and OAA to malate. |
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what do heme synthesis, urea cycle, and gluconeogenesis have in common?
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all take place in mitochondria and cytoplasm.
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What are the two enzymes that can cause disorders of fructose metabolism? What sx does it cause?
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deficiency in fructokinase, and aldolase B. Aldolase B is worse. It is supposed to convert Fructose - 6 - phosphate into DHP + glyceraldehyde, and not being able to causes phosphate trapping, leading to impaired glycolysis and hypoglycemia!
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what two enzymes can cause disorders of galactose metabolism? Which is worse?
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galactokinase, and galactose-1-phosphate uridyltransferase.
galactokinase is relatively benign, presents with trouble tracking objects and a failure to develop a social smile, and could lead to infantile cataracts. however the other deficiency could lead to failure to thrive, jaundice, and mental retardation, in addition to the symptoms listed above. The symptoms can be attributed to galactiolol, which is what galactose is converted to if the two enzymes above don't work via aldose reductase. accumulation of galactilol causes the infantile cataracts. |
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What enzyme builds up as a result of hyperglycemia in diabetic patients causing osmotic damage?
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sorbitol. glucose is converted to sorbitol via aldose reductase. only the liver, ovaries, and seminal vesicles have the enzyme sorbitol dehydrogenase to convert sorbitol to fructose, the other organ systems just allow it to accumulate leading to osmotic damage.
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Which two amino acids are required during growth?
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arg and lysine
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is CPS-1 or OTC the rate limiting step in UREA cycle? differentiate between the genetics of each disease, and manifestations.
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CPS-1 is rate limiting.
OTC is x-linked recessive and the most common one, and CPS is autosomal recessive. OCT deficiency results in excess carbomyl phosphate which is converted to orotic acid. You can differentiate this from orotic aciduria by the presence of hyperammonemia |
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What amino acid do the following molecules come from?
Seratonin Heme |
Seratonin comes from tryptophan (need BH4)
Heme comes from Glycine (need B6) |
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In the catacholamine synthesis pathway, what is vitamin C required for?
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Conversion of NE from dopamine.
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Glycogen storage diseases:
which causes cardiomegaly and leads to early death? |
deficiency in lysosomal a-1,4 glucosidase, which breaks down glycogen into Glucose + phosphate directly. LYSOSOMAL DISEASE - POMPE'S
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Glycogen storage diseases:
Which causes severe fasting hypoglycemia, and increased blood lactate along with increased glycogen in the liver leading to hepatomegaly? |
Glucose - 6 - phosphatase deficiency (von-gierke's)
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Glycogen storage diseases:
which one causes muscle fatigue, due to increased glycogen in muscle, and an ibaility to break it down? also causes myoglobinuria! |
glycogen phosphorylase in the muscles - mcardle's disease
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Which is the only x-linked lysosomal storage disease?
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FABRY'S - deficiency in a-galacosidase A, and causes ceramide trihexoside to accumulate. Will present with peripheral neuropathy and angiokeratomas, which are scars between the umbilicus and knees.
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Which is the most common lysosomal storage disease?
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Gaucher's disease - deficiency in glucocerebrosidase, leading to increase glucocerebroside.
FIndings include aseptic necrosis of femur leading to bone crisis, and Gaucher's cells, which are macrophages that look like crumpled tissue paper. |
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which lysosomal storage disease causes progressive neurodegeneration, and allows visualization of a cherry red spot on the macula?
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Neimann-pick - deficiency in sphingomyelinase, leading to increased sphingomyelin which accumulates in macrophages causing the characteristic foam cells. Babies usually die before the age of 3.
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How can you differentiate between Neimann picks vs tay sachs?
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They both cause death really early, but tay sachs wont have hepatosplenomegaly, or foam cells. instead it has lysosomes with onion cells. The defect is in hexoaminidase A, leading to accumulation of GM2 ganglioside.
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Which Lysosomal storage disease leads to central AND peripheral neuropathy?
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Metachromatic leukodystrophy, due to deficiency in arylsulfatase A, and increased cerebroside sulfate.
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Angiokeratomas, cardiac and renal dz, painful neuropathy
Dz, enzyme deficiency, accumulated product |
Fabry's - XR
a-galactosidase A Ceramide trihexoside |
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Crumpled tissue paper macrophages, hepatosplenomegaly, aseptic necrosis of femur, pancytopenia, bone and joint pain
Dz, enzyme deficiency, accumulated product |
Gauchers - AR
Glucocerebrosidase Glucocerebroside |
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Gargolyism, corneal clouding, hepatosplenomegaly, developmental delay, airway obsturction
Dz, enzyme deficiency, accumulated product |
Hurler's syndrome - AR
a-L-iduronidase Heparan sulfate, dermatan sulfate |
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Developmental delay, gargolyism, aggressive behavior, hepatosplenomegaly
Dz, enzyme deficiency, accumulated product |
Hunter's syndrome - XR
Iduronate sulfatase Heparan sulfate, dermatan sulfate |
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Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
Dz, enzyme deficiency, accumulated product |
Niemann-Pick - AR
Sphingomyelinase Sphingomyelin |
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Progressive neurodegeneration, developmental delay, cherry-ed spot on macula, lysosomes with onion skin, NO HSM
Dz, enzyme deficiency, accumulated product |
Tay-Sachs - AR
Hexosaminidase A GM2 ganglioside |
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Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Dz, enzyme deficiency, accumulated product |
Krabbe's - AR
B-galactocerebrosidase galactocerebroside |
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Central and peripheral demyelination, ataxia, dementia, muscle wasting
Dz, enzyme deficiency, accumulated product |
Metachromatic leukodystrophy - AR
Arylsufatase A Cerebroside sulfate |
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Dermatitis, dementia, diarrhea
possible LE edema |
Pellagra - Niacin deficiency
from diet or synthesized from TRYPTOPHAN |