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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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1. What order kinetics does EtOH dehydrogenase have
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Zero
Nonsense > missense > silent

2. What does a kinase do
Uses ATP to add high energy phophate group onto substrate
Cytosol
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

3. What apolipoprotiens are on VLDL
Paclitaxel
Phenylalanine
Eu - methionine - pro - formyl - methionine
B-100 - CII and E

4. In base excision repaire - what recognizes and removes damaged bases and what cuts the DNA to remove the empty sugar
Nine
ATP
Passed to glutamate - then to alanine enters blood - enters liver - coverted to pyruvate and transfers ammonium back to glutamate which gives it to the urea cycle
Specific glycosylases - AP endonuclease

5. What lab technique is use to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments
Alpha and beta tubulin - dimers have two GTP bound
Microarrays
Binds 50S - blocking translocation
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation

6. What does lactase deficiency cause
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Isocitrate dehydrogenase

7. What is the fxn of vit D
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Site of steroid synthesis and detoxification of drugs and poisons
Oxidizes substrate
Glycogen phosphorylase

8. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
Initiate chains
Neurofibromatosis type 1 (von Recklinghausens disease)
Inc glucagon - inc cAMP - inc PKA
Alpha - ketoglutarate dehydrogenase complex

9. elevated LDL due to defective or absent LDL receptor - heterozygotes have cholesterol ~300 - homozygotes ~700
Intermediate filaments
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Familial hypercholesterolemia - hyperlipidemia type IIA
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase

10. What makes up a nucleoside
Inc Cl - in sweat
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Base + ribose

11. What metabolic rxns occur in the cytoplasm
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Wobble
Breaks down acyl - coa to acetyl coa groups in mito
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)

12. What are the characteristics of prader willi syndrome How does it occur
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
FISH
Euchromatin
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15

13. What converts limit dextran to glucose
Antioxidant - protects RBCs and membrances from free radical damage
No - its non homologous
Debranching enzyme
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

14. Which end of the tRNA is the amino acid bound to...

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15. What does vit C def cause
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
ATP hyrdolysis couple to energetically unfavorable rxns
Familial hypercholesterolemia - hyperlipidemia type IIA
Diphyllobothrium latum

16. What are possilbe presentation for galactokinase def
Failure to track objects or develop a social smile
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Liver and leafy veggies

17. What does the ELISA test for
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Dermatitis - enteritis - alopecia - adrenal insuff
Glutamine PRPP amidotransferase
Antigen - antibody reactivity - can look for antigen or antibody in patients blood

18. What is the treatment for cystathionine synthase def
Dec methionine - inc cystiene - inc B12/folate
Hereditary spherocytosis
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
FISH

19. In the chromatin structure - which histones form the octamer - and which ties the nucleosome beads together in a string?
Inhibit DNA gyrase specific for prokaryotic topoisomerase
X- linked recessive
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Leu - lys

20. How do glucagon/epi lead to glycogenolysis
Liver and leafy veggies
Acetyl - CoA carboxylase (ACC)
Hypoxanthine to xanthing and xanthine to uric acid
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

21. What enzyme converts adenine to AMP
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
APRT + PRPP
Wobble
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

22. What is pseudohypertrophy in the calf a result of - and What are the cardiac manifestations
Oxidative and nonoxidative - no ATP produced or used
Degredation of dietary TG in small intestine
Fibrofatty replacement of muscle - cardiac myopathy
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE

23. What is the name is fxn of vit B3
Niacin - constituent of NAD and NADP - derived from tryptophan
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
CTG
Targets the proteins for lysosome

24. What is pleiotropy and given an example
HMP shunt
HMG- CoA (HMG- CoA to mevalonate
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
X- linked recessive

25. What is the most abundant protein in the body
Collagen
Familial hypercholesterolemia - hyperlipidemia type IIA
B100 and E
Ribose 5- P to PRPP

26. How is ATP used by the cell
Activates LCAT
ATP hyrdolysis couple to energetically unfavorable rxns
Degredation of TG circulating in chylomicrons and VLDLs
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR

27. What chromosome is the NF gene on...
17 - 17 letters in von Recklinghausen
LDL
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs

28. In eukaryotes - What does RNA poly II make
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
MRNA
Met - val - arg his

29. What is the physiologic role of dystrophin
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Changed AA (convservative - new AA is similar in chemical structure)
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Karyotyping

30. How do you diagnose CFTR
Ribos first then deoxyribos with ribonucleotide reductase
GAA
Lysine and leucine
Inc Cl - in sweat

31. What are the 4 assumption of the Hardy Weinberg law
Transfers methyl units
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
III - joint dislocation - anuerysms - organ rupture
CTG

32. Name as many x- linked recessive disorders as you can

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33. characterize autosomal domint inheritance
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Mitochondria
HDL

34. What apolipoprotein is on LDL
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
B100
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Phenylalanine

35. What does primase do
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
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Mutated dystrophin gene - less severe - adolescence
Makes RNA primer on which DNA poly III can initiate replication

36. NADPH are used In what 4 things
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Defect in fibrillin
CGG

37. Which phase of the HMP shunt is reversible and Which is irreversible
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Kwashiorkor - small child with swollen belly
Oxidative is irreversible
Same AA - often base change in 3rd position of codon (tRNA wobble)

38. What is the composition of urea and where do each part derive from
SnRNPs
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs

39. cytoskeletal elements associated with vimenentin - desmin - cytokeratin - glial fibrillary acid protiens (GFAP) - neurofilaments
Deamination
Intermediate filaments
Colchicine
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

40. Where is glucokinase found - What are the Km and Vmax - and what induces it
Inhibits the Na/K pump by binding the K side
Active secretion in lungs and GI - reabsorbs in skin
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
Neural tube

41. What shape does the RNA generate during splicing and why?
Lariat shape in order and remove intron precisely and join 2 exons
Cytosol
Polyneuritis - symmetrical muscle wasting
Same AA - often base change in 3rd position of codon (tRNA wobble)

42. In which state is FBPase -2 active
Orotic acid to UMP
Fasting
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Transmitted through both parents - affected mother may have affected children - affected father will have affected children

43. The golgi apparatus fxns as a distribution center between what organelles in the cell and What does it process
Alanine
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Terminal regions - tropocollagen

44. Very Poor Carbohydrate Metabolism stands for 4 of the glycogen storage diseases - What are thy

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45. What does the deletion of the dystrophin gene lead to...
Diphyllobothrium latum
Accelearted muscle breakdown
Catabolic processes to carry reducing equivalents away as NADH
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse

46. What is the amino acid precursor for catecholamines
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Phenylalanine
Binds 50S - blocking translocation
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision

47. How are the many staggered tropocollagen molecules reinforced
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Covalent cross - linking by lysyl oxidase to make collagen fibrils

48. What is heteroplasmy
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Heterochromatin = HighlyCondensed
Modifies N- oligosaccharides

49. Why can't muscle produce in gluconeogenesis
Lactate
Mutated dystrophin gene - less severe - adolescence
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Lacks glucose 6 phophatase

50. What substances directly inhibit electron transport chain
Rotenone - CN- - antimycin A - CO
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
MEN - 2A and 2B with ret gene
Eu - methionine - pro - formyl - methionine