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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 happens in elongation of protein synthesis

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2. Mild Hurlurs + aggressive behavior no corneal clouding
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Breaks down acyl - coa to acetyl coa groups in mito
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
No - its non homologous

3. What is the prevalence of an X- linked recessive disease in males and in females
Q -
TTP
Four
Ile - phe - thr - trp

4. protein malnutrition resulting in skin lesions - edema and liver malfxn
Lariat shape in order and remove intron precisely and join 2 exons
Adds an inorganic phosphate onto substrate without using ATP
Kwashiorkor - small child with swollen belly
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein

5. What rxn does propionyl - CoA carboxylase catalyze
FMR1 gene - methylation - associated with chromosomal breakage
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Phenylketones in urine

6. For eukaryotes - Where does replication begin?
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Consesus sequenec of base pairs
Proline and glycine (non glycosylated forms)
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

7. Where is fructose 1 -6 bisphosphatase found and What does it do
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Prevent strands from reannealing
2pq
Cytosol - F 1 -6 BP to fructose 6 Phosphate

8. What does NADPH oxidase deficiency result in and why
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
More than 1 codon may code for the same amino acid
1 kind with multiple subunits
Chronic granulomatous disease - no respiatory burst - no formatino of ROS

9. Pts with albinism are at inc risk For what cancer
Skin
GAA
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Hereditary spherocytosis

10. cardiomegaly - systemic findings leading to early death - dz and enzyme

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11. What are the priorities for the body in fasting and starvation
5' of the incoming nucleotide
Supply sufficient glucose to brain and RBCs and to preserve protein
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Creat a nick in the helix to relieave supercoils created during replication

12. What initiates protein synthesis
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Degredation of TG circulating in chylomicrons and VLDLs

13. Where is hexokinase found - What is its Km and Vmax and what uninduces it
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
X- linked recessive
Diphyllobothrium latum

14. What metabolic rxns occur in both the cytoplasm and mitochondria
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Stored ATP - creatine phosphate - anaerobic glycolysis
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Proline and glycine (non glycosylated forms)

15. What causes maple syrup urine disease and What does it lead to...
Karyotyping
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
Prevent strands from reannealing
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT

16. What is the RER called in neurons and What is made there
RRNA
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Nissl body - enzyme and NTs

17. What does primase do
Makes RNA primer on which DNA poly III can initiate replication
Muscle
Elastase - inhibited by alpha1 antitrypsin
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination

18. What is a silent mutation
IMP precursor
Same AA - often base change in 3rd position of codon (tRNA wobble)
Rb and p53
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR

19. What is trimming
African Americans and Asians
Removal of N or C termal propeptides from zymogens to generate mature proteins
Activates LCAT
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

20. What does vit E def cause
Acetyl - CoA
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Attachment of ubiquitin to defective proteins tag them for breakdown
II - VII - IX - X (1972) protein C and S

21. What does vit C def cause
Tyrosine
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Keep glutathione reduced so it can detoxify free radicals and peroxides
Degredation of dietary TG in small intestine

22. Where is PEP carboxykinase found - What does it do - and What does it require
Liver - also in kidney and gut epithelium
Binds to LDL receptor - mediates VLDL secretion
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Asp and Glu

23. What are the findings in Lesch - Nyhan
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
III - joint dislocation - anuerysms - organ rupture
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
ATP

24. How many ATP are produced by anearobic glycolysis per molecule of glucose
Intermediate filaments
Two
Elastase - inhibited by alpha1 antitrypsin
ATP and methionine

25. What are the only purely ketogenic amino acids
Arg and his inc in histones Which bind negatively charged DNA
Lysine and leucine
B100 and E
CAG

26. What produces NADPH
TRNA
Liver hepatocytes and steroid producing cells of the adrenal cortex
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
HMP shunt

27. What is the amino acid precuros for niacin and serotonin/melatonin
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Tryptophan
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Von hippel lindau - 3

28. What is the target of the 3' hydroxyl attack
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
The triphosphate bond
MEN - 2A and 2B with ret gene

29. What two amino acids are required druing periods of growth and why
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Arg and his inc in histones Which bind negatively charged DNA
CTG

30. In a marathon Where does energy come from
Glycogen and FFA oxidation; glucose conserved for final sprinting
ATP hyrdolysis couple to energetically unfavorable rxns
Wobble
L form

31. What does the start codon code for in eukaryotes and prokaryotes
UGA - UAA and UAG
Eu - methionine - pro - formyl - methionine
B-100 - CII and E
Glycogenolysis to form glucose

32. What does PURe As Gold and CUT The Py stand for
Base + ribose
Purines= A - G pyrimidine = C - T (U)
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
High output cardiac failure - dilated cardiomyopathy - edema

33. What is linkage disequilibrium
Males are infertile due to bilateral absence of vas deferens
After day 1
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination

34. Type I collagen
One
Inc Cl - in sweat
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Lactate

35. What 3 syndromes are associated with vit B1 def
ADPKD
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Wernicke - korsakoff - dry and wet beriberi

36. inc glycogen in muscle but can't break it down - painful muscle cramps - myglobinuria with strenuous exercise - dz and enzyme

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37. What is the activated carrier for electrons
Pyruvate - NAD+ - CoA
X linked frame shif mutation
NADH - NADPH - FADH2
Adipse tissue stores - keton bodies become the main source of energy fo the brain and heart - after these are depleted - vital protein degradation accelerates - leading to organ failure and death

38. How is orotic aciduria inherited
Semiconservative - continuous and discontinuous strands (okazaki fragments)
AR
Hypoglycemia
Sons of heterozygous mothers have 1/2 half chance of being affected - no male to male transmission - and often more severe in males - heterozygous females may be affected

39. What substance accumulates in galactokinase def and What is the clinical picture
Base + ribose
Acetyl - CoA
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Achondroplasia

40. What are the glucogenic/ketogenic amino acids
Ile - phe - thr - trp
IMP precursor
Accelearted muscle breakdown
Cleft palate - cardiac abnl - pregs test

41. characterize autosomal recessive inheritance
Neurofibromatosis type 1 (von Recklinghausens disease)
III - joint dislocation - anuerysms - organ rupture
1/4 of offspring from 2 carrier parents are affected - often enzyme def - usually only seen in 1 generation - often more sever than AD - presents in childhood
1 kind with multiple subunits

42. What makes up a nucleotide

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43. bilateral - massive enlargement of of kidneys due to multiple large cysts
ADPKD
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Inc melt - dec fluidity
Cytosol

44. What are cyclin - CDK complexes
CAG - 4
Specific glycosylases - AP endonuclease
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Must be both activated and inactivated for cell cycle to progress

45. What is the amino acid precuror for creatine - urea and nitric oxide
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Fed
Arginine

46. What enzyme becomes essential in PKU
Tyrosine
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Sulfation

47. In which state is PFK-2 active
Carnitine acyltransferase I
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Fed
Dermatitis - glossitis - and diarrhea

48. What are the blood glucose levels maintained by for days 1-3
Arg and his inc in histones Which bind negatively charged DNA
Failure to track objects or develop a social smile
Hepatic glycogenolysis - adipose tissue release of FFA - muslce and liver FFA - hepatic gluconeogenesis from peripheral tissue lactate and alanine and from adipose tissue glycerol and proprionyl - coA (odd chain FFA)
Arg - lys - his - arg is most basic - has has no charge at body pH

49. What are the symptoms of vit A def
Same AA - often base change in 3rd position of codon (tRNA wobble)
Inhibits the Na/K pump by binding the K side
Night blindness - dry skin
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS

50. Acetyl - CoA carboxylase catalyzes what rxn
Acetyl - CoA to malonyl - CoA (2C to 3C)
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
G6PD