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Biochemistry

Instructions:

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. antbiotic controlled promoter to induciblly manipulate genes at specific developmental points
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Cre - lox system
Collagen
Acetyl - CoA to malonyl - CoA (2C to 3C)

2. What do DNA topoisomerases do
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Myeloperoxidase
Creat a nick in the helix to relieave supercoils created during replication
Inhibits the Na/K pump by binding the K side

3. What polar group does guanine have - and what non polar group does thymine have
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Ketone - methyl
CarTWOlage

4. What initiates protein synthesis
Pyruvate to oxaloacetate (3C to 4C)
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
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

5. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
One
CFTR gene - 7 - Phe 508
Inc Cl - in sweat

6. What are the two transgenic strategies in mice
FAP
Heterochromatin = HighlyCondensed
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Post to neg

7. What is the fxn of vit E
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
5' of the incoming nucleotide
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Antioxidant - protects RBCs and membrances from free radical damage

8. What is the amino acid precursor for histamine
Dec methionine - inc cystiene - inc B12/folate
Rb and p53
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Histidine

9. What form of amino acids are found in proteins
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
L form
Malabsorption and steatorrhea (ADEK)
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

10. What are the 3 AR forms of homocystinuria
Glycogen synthase
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Coenzyme A - lipoamide
Unmethylated - newly synthesized - HNPCC

11. What does the start codon code for in eukaryotes and prokaryotes
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Adds 2 carbon with the help of biotin
Eu - methionine - pro - formyl - methionine
Failure to track objects or develop a social smile

12. What is DNA cloning and How do you do it?
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Wernicke - korsakoff - dry and wet beriberi
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes

13. congenital microdeletion of long arm of chromosoe 7 with findings of elfin facies - mental retardation - hypercalcemia - well developed verbal skills - extreme friendliness with strangers - cardiovascular problems
Fibroblast
4 under the floor
Williams syndrome
Terminal regions - tropocollagen

14. What is the rate limiting enzyme in cholesterol synthesis
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users
Carbomoyl phosphate synthetase I
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
HMG- CoA (HMG- CoA to mevalonate

15. What converts NE to epi
Defect in fibrillin
Phenylethamolamine N methyl transferase
P2 +2pq+ = 1
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin

16. What enzymes metabolize fatty acids and amino acids
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Acetoacetate and beta hydroxybutyrate
Neuralgia
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase

17. What is proteasomal degredation
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Attachment of ubiquitin to defective proteins tag them for breakdown
Oxidizes substrate

18. What 3 amino acids are necessary for purine synthesis
Fibroblast
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Glycine - aspartate - glutamine
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

19. NADPH are used In what 4 things
TTP
Glycolysis and aerobic respiration
The triphosphate bond
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase

20. What bone disorder has x linked dominant inheritance
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
P+q = 1
MRNA
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

21. What components come together to make S- adenosyl methionine
Degradation of TG remaining in IDL
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
APC on chromosome 5
ATP and methionine

22. What is the RDE of de novo pyrimidine synthesis
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Elastase - inhibited by alpha1 antitrypsin
Stop codon is recognized by release factor - and completed protein is released from ribosome
Carbomoyl phosphate synthetase II

23. Which anti gout drugs work on microtubules
GTP
Colchicine
MRNA
Degredation of TG circulating in chylomicrons and VLDLs

24. How many ATP are created by aerobic metabolism of glucose in the heart and liver via what shuttle
32 - malate aspartate shuttle
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Avidin
X- linked recessive

25. What is the TX for CF and What does it do
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Base + ribose
Rotenone - CN- - antimycin A - CO

26. What reaction does adenosine deaminase normally catalyze
Modifies N- oligosaccharides
Adenosine to inosine
17 - 17 letters in von Recklinghausen
ATP hyrdolysis couple to energetically unfavorable rxns

27. What does Ehlers Danlos cause and why
Glycine - aspartate - glutamine
Glycogen synthase
Carbomoyl phosphate synthetase II
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints

28. What happens in folate def
Acetyl - CoA to malonyl - CoA (2C to 3C)
Epithelial cells
Supply sufficient glucose to brain and RBCs and to preserve protein
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs

29. Delivers hepatic cholesterol to peripheral tissues - formed by LPL modification of VLDL in the peripheral tissue - taken up by target cells via RME
SAM
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
L form
LDL

30. What enzyme does fructose metabolism bypass to reach glycolysis
Phenylalanine hydroxylase
Carbomoyl phosphate synthetase I
Alkaptonuria - may have debiliating arthralgias
PFK - rate limiting enzyme

31. Who typically has lactase def
Q -
African Americans and Asians
Fed
Marfans

32. Milder form of type I with nl blood lactate levels - dz and enzyme

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33. What does high cholesterol or long saturated fatty acid content do to the melting temperature and fluidity
Inc melt - dec fluidity
Essential fructosuria - fructokinase AR
Each codon specifies only 1 amino acid
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue

34. Which aspect of the spliceosome do patients with lupus make antibodies against
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Bruton's agammaglobulinemia - wiskott - aldrich - fabrys disease - G6PD def - ocular albinism - Lesch - Nyhan syndrome - Duchenne and Becker Muscular Dystrophy - hunter's syndrome - hemophilia A and B
HGPRT - defective purine salvage - excess uric acid production
SnRNPs

35. What are the findings in orotic aciduria
Fructose 1 -6 bisphosphate
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Tuberous sclerosis
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive

36. RNA poly can't proofread - but What can it do
Initiate chains
Hereditary spherocytosis
Colchicine
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes

37. Where is vit A found in the diet
Ile - phe - thr - trp
Liver and leafy veggies
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Ribose 5- P to PRPP

38. Describe the structure of cilia
Four
Glutamine PRPP amidotransferase
Stop codon is recognized by release factor - and completed protein is released from ribosome
9+2 arrangement of microtubules

39. nucleotide repeat for fredreich's ataxia
Infection - free radicals generated by inflammatory response
Mcardle's - skeletal muscle glycogen posphorylase
GAA
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver

40. What does biotin def cause
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Dermatitis - alopecia - enteritis
Carnitine shuttle - acyl - coa from cyto to mito
Adds an inorganic phosphate onto substrate without using ATP

41. In what direction are DNA and RNA synthesized

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42. protein malnutrition resulting in skin lesions - edema and liver malfxn
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Kwashiorkor - small child with swollen belly
BOne
Tuberous sclerosis

43. Name 5 drugs that interfere with nucleotide synthesis
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
40 - 60 - 80
Mutated dystrophin gene - less severe - adolescence
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR

44. What does a mischarge tRNA do
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Reads usual codon but inserts wrong AA
Adenosine to inosine
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood

45. What kind of RNA is transported out of the nucleus
Ketone - methyl
Binds to LDL receptor - mediates VLDL secretion
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Only processed RNA

46. In what cell is collagen synthesis initiated
Fibroblast
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

47. How do stable (quiescent) cells grow and regenerate and What are examples
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
Williams syndrome
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Karyotyping

48. What does apoB100 do
Kidney - ears - eyes
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Binds to LDL receptor - mediates VLDL secretion
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

49. What does a carboxylase do
Glucose - 2Pi - 2ADP - 2NAD+
NADH - NADPH - FADH2
Pyroxidine - converted to pyroxidine phosphate a cofactor used in transamination - decarboxylation - glycogen phosphorylase - cystathionine synthesis and heme synthesis - required for synthesis of niacin and tryptophan
Adds 2 carbon with the help of biotin

50. What is the activated carrier for methyl groups
SAM
Core proteins
Assistance of upper extremities to stand up
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent