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Biochemistry

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Answer 50 questions in 15 minutes.
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Match each statement with the correct term.
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This is a study tool. The 3 wrong answers for each question are randomly chosen from answers to other questions. So, you might find at times the answers obvious, but you will see it re-enforces your understanding as you take the test each time.

1. What is Gowers maneuver
Carnitine shuttle - acyl - coa from cyto to mito
Assistance of upper extremities to stand up
Defect in fibrillin
CG- 3 > AT-2 - More CG content - melting point goes up

2. What enzymes metabolize fatty acids and amino acids
Acetoacetate and beta hydroxybutyrate
Fibroblast
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway
Pyruvate - NAD+ - CoA

3. What happens in hyperammonemia
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Diphyllobothrium latum
Coenzyme A - lipoamide
Pyruvate - NAD+ - CoA

4. What amino acid makes up most of the octamer
Inhibits the Na/K pump by binding the K side
B-100 - CII and E
Lysine and arginine
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation

5. What catacholamine step is SAM required for
Citrate - acetyl coa from mito to cyto
Stop codon is recognized by release factor - and completed protein is released from ribosome
Glycogen synthase
Conversion of NE to epi

6. What are cyclin - CDK complexes
Must be both activated and inactivated for cell cycle to progress
Acetly- CoA - CO2 - NADH
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA

7. What does a decrease in decrease in NADPH lead to and why
Mebendazole/thiabendazole
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Huntingtons
SAM

8. What is the treatment for cystathionine synthase def
Dec methionine - inc cystiene - inc B12/folate
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
PCR - denaturation - annealing - elongation
ATP and methionine

9. Type I collagen
Debranching enzyme
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
MEN - 2A and 2B with ret gene

10. Where is pyruvate carboxylase found - What does it do - What does it require amd What activates it
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Schilling test
Phenylketones in urine
Glucose - 2Pi - 2ADP - 2NAD+

11. What inhibits pyruvate kinase
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
ATP and alanine
Inc glucagon - inc cAMP - inc PKA

12. In a 1000 meter run - Where does energy come from
Same as sprint + OXPHOS
5' to 3'
Mutated dystrophin gene - less severe - adolescence
Colchicine

13. What are the reactants for glycolysis
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Glucose - 2Pi - 2ADP - 2NAD+
Pyruvate - NAD+ - CoA
Marfans

14. What does SAM do
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Transfers methyl units
Catabolic processes to carry reducing equivalents away as NADH
Familial hypercholesterolemia - hyperlipidemia type IIA

15. What makes up a nucleotide

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16. What is the defect in fructose intolerance and What does it cause
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
ATP - citrate
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting

17. characterize autosomal domint inheritance
Skin
Change resulting in early stop codon
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms

18. What shape does the RNA generate during splicing and why?
Lariat shape in order and remove intron precisely and join 2 exons
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Adds an inorganic phosphate onto substrate without using ATP
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)

19. What feedback inhibits hexokinase
Dopa decarboxylase
Kidney - ears - eyes
ADPKD
Glucose -6 phosphate

20. What happens to oxaloacetate in alcholism
HMG- CoA synthase
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Cre - lox system
Tryptophan

21. What are the function of vit C
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year
FMR1 gene - methylation - associated with chromosomal breakage
Antioxidant - facilitates iron absorption by keeping iron in the Fe2+ reduced state - necessary for hydroxylation of proline and lysine collagen bridges - necessary for dopamine beta hydroxylase which converts DA to NE
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

22. What is DNA cloning and How do you do it?
Ribos first then deoxyribos with ribonucleotide reductase
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Malapsorption syndromes like sprue or CF or mineral oil intake
B100 and E

23. How many nucTIDEs is a tRNA and What does the secondary sturcture form
Neither of 2 alleles is dominant - blood groups
Occurs when cells in the body have different genetic makeup - can be germline mosaic - which may produce a disease that is not carried by parents somatic cells - lyonization - random X inactivation in females
75 to 90 - cloverleaf
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

24. What are the findings in orotic aciduria
Males are infertile due to bilateral absence of vas deferens
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Blood - bone marrown - amniotic fluid - placental tissue
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis

25. Acetyl - CoA carboxylase catalyzes what rxn
Makes RNA primer on which DNA poly III can initiate replication
Acetyl - CoA to malonyl - CoA (2C to 3C)
Orotate precursor - with PRPP added later
Hypoxanthine to xanthing and xanthine to uric acid

26. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
GAA
Oxalacetate
Result from phagocytic removal of heinz bodies my macs - G6PD def
Hereditary spherocytosis

27. What is the amino acid precursor for histamine
Males are infertile due to bilateral absence of vas deferens
Colchicine
Histidine
CAG

28. What is the result of vit B5 def
32 - malate aspartate shuttle
Dermatitis - enteritis - alopecia - adrenal insuff
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway
Inhibit DNA gyrase specific for prokaryotic topoisomerase

29. How does abetalipoproteinemia present and What is the defect
Metanephrine
Early in life - AR - inability to synthesize lipoproteins due to def in apoB100 and B48 - intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons - failure to thrive - steatorrhea - acanthocyt
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Changed AA (convservative - new AA is similar in chemical structure)

30. What does CATCH 22 stand for and What causes is...
HVA
After day 1
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Changed AA (convservative - new AA is similar in chemical structure)

31. Giving folate during early pregnancy is important to prevent what birth defects
Oxidative is irreversible
GTP
Neural tube
Grows slowly - collapses quickly

32. What substance inside the cells replenishes NADPH
G6PD
B48 - AIV - CII - E
Lysine and leucine
They yield only acetyl - CoA equivalents

33. What is the origin of replication
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Neither of 2 alleles is dominant - blood groups
Particular sequence of DNA where replicatino begins - may be single of multiple
Facial flushing

34. Which anti gout drugs work on microtubules
Inc melt - dec fluidity
Colchicine
APKD1 on chromosome 16
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin

35. This is the site where negative regulators bind
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Silencers
HDL
40 - 60 - 80

36. What are the symptoms of vit A excess
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Alpha 1 -6 and alpha 1 -4
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

37. What causes Down syndrome
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway
Histidine
NAD+
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21

38. What is the TX for PKU
Inc permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat
PCR - denaturation - annealing - elongation
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood

39. What does DNA poly III do?

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40. What does DNA poly I do?
Sucrose = glucose + fructose - lactose = glucose + galactose
Glycogen phosphorylase
Tyrosine
Prokaryotic only - degrades RNA primer and fills in the gap with DNA

41. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Protein
Marasmus - muscle wasting
PFK - rate limiting enzyme
4 under the floor

42. hepatosplenomegaly - aseptic necrosis of femur - bone crisis - MACS that look like crumpled tissue paper

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43. What is the treatment for orotic aciduria
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Oral uridine administration
Silencers
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)

44. Which cells are rich in smooth ER
Myeloperoxidase
Liver hepatocytes and steroid producing cells of the adrenal cortex
Diphyllobothrium latum
Sucrose = glucose + fructose - lactose = glucose + galactose

45. What is the breakdown product of NE
VMA
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Cyclin dependent kinases;constitutive and inactive
Lysine and arginine

46. What happens at the smooth ER
They yield only acetyl - CoA equivalents
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Site of steroid synthesis and detoxification of drugs and poisons
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes

47. developmental delay - gargoylism - airway obstruction - corneal clouding - hepatosplenomegaly
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Oral uridine administration

48. What does fomepizole do
Read from a fixed starting point as a continuous sequence of bases
Mucus secreting globlet cells and antibody secreting plasma cells
Not all individuals with a mutant genotype show the mutant phenotype
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning

49. protein malnutrition resulting in skin lesions - edema and liver malfxn
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death
Kwashiorkor - small child with swollen belly

50. How many ATP are created by aerobic metabolism of glucose in the heart and liver via what shuttle
Tuberous sclerosis
32 - malate aspartate shuttle
Initiate chains
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus