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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. What regulates whether FBPase -2 or PFK-2 is active
Avidin
High output cardiac failure - dilated cardiomyopathy - edema
RRNA
Protein kinase A

2. What is NADPH used for
Inc glucagon - inc cAMP - inc PKA
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
Anabolic processes as a supply of reducing equivalents
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele

3. How is vit D stored
25OHD3
17 - 17 letters in von Recklinghausen
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer

4. How many rings do purines have
1 -25 OH2 D3 = calcitriol
2 rings
Inc melt - dec fluidity
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus

5. A small proportion of Down syndrome is due to What two genetic events
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
RRNA
CAG
Robertsonian translocation and mosaicism

6. What enzymes metabolize fatty acids and amino acids
Dermatitis - glossitis - and diarrhea
Basement membrane or basal lamina
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Acetoacetate and beta hydroxybutyrate

7. protein malnutrition resulting in skin lesions - edema and liver malfxn
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Glycogenolysis to form glucose
Proline and lysine - vit C
Kwashiorkor - small child with swollen belly

8. What happens to glycogen in the liver
Metanephrine
Oxalacetate
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels

9. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
Adds 2 carbon with the help of biotin
Fed
Must be both activated and inactivated for cell cycle to progress
Cleft palate - cardiac abnl - pregs test

10. Which part of the DNA binds RNA polymerase and multiple other TFs upstream from gene locus
Promotor - TATA box - and CAAT box - AT rich
Fructose 1 -6 bisphosphate
Dermatitis - alopecia - enteritis
Pseudomonas and s aureus

11. Delivers hepatic cholesterol to peripheral tissues - formed by LPL modification of VLDL in the peripheral tissue - taken up by target cells via RME
LDL
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
In ER - glucose 6- P to glucose
2pq

12. What does apoB100 do
1 kind with multiple subunits
NAD+
Wernicke - korsakoff - dry and wet beriberi
Binds to LDL receptor - mediates VLDL secretion

13. What is the result of vit B5 def
Acetoacetate and beta hydroxybutyrate
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Seals.

14. What neuroanatomical strutures are injured in wernicke - korsakoff
MRNA - tRNA
Medial dorsal nucleus of thalamus - mamillary bodies
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Mediates chylomicron secretion

15. How do permanent cells grow and regenerate and What are examples of permanent cells
Degradation of TG remaining in IDL
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Change resulting in early stop codon

16. In which direction is protein synthesized
N to C
One
Isocitrate dehydrogenase
BOne

17. What causes Marfan syndrome
Defect in fibrillin
Alpha and beta tubulin - dimers have two GTP bound
Mutated dystrophin gene - less severe - adolescence
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR

18. characterize x linked dominant
Inc melt - dec fluidity
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Two
Hereditary spherocytosis

19. What is variable expression and What is an example
Nature and severity of phenotype vary from 1 individual to another - NF type 1
B100 and E
Activates LCAT
Epithelial cells

20. What does the vimentin stain for
Consesus sequenec of base pairs
Connective tissue
Seals.
By inhibiting formation of the initiation complex and cause misreading of mRNA

21. Type IV collagen is an important structural componenet of the BM for which 3 organs
Only processed RNA
Ca/calmodulin in muscle to coordinate with muscle activity
Blood - bone marrown - amniotic fluid - placental tissue
Kidney - ears - eyes

22. trinucleotide repeat for huntingtons
HDL
Scrutinizes - hydrolyzes the bond
CAG
Phenylethamolamine N methyl transferase

23. I g fat = ? Kcal
Promotor - TATA box - and CAAT box - AT rich
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Marfans
Nine

24. What rxn does propionyl - CoA carboxylase catalyze
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
APRT + PRPP
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss

25. characterize autosomal domint inheritance
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Intermediate filaments
Males are infertile due to bilateral absence of vas deferens
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

26. What converts tyrosine to DOPA
Neuralgia
Degredation of TG circulating in chylomicrons and VLDLs
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Tryosine hydroxylase

27. What two pathways is carbomoyl phosphate involved in - and what enzyme deficiency leads to a build of carbamoyl phosphate leading to what element in pyrimidine synthesis
Von Gierke's - Pompe - Cori - McArdle
Adenosine to inosine
Free ribosomes
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

28. What 3 amino acids are necessary for purine synthesis
L form
4 under the floor
Glycine - aspartate - glutamine
One

29. What reaction does adenosine deaminase normally catalyze
TTP
Adenosine to inosine
Phosphofructokinase 1
2 -4 DNP - aspirin

30. What tissue samples are used for karyotyping
RRNA
Phosphofructokinase 1
Blood - bone marrown - amniotic fluid - placental tissue
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)

31. Do balanced translocations cause abnl phenotype
ATP hyrdolysis couple to energetically unfavorable rxns
Pyruvate - NAD+ - CoA
No
CAG - 4

32. What does NADPH oxidase deficiency result in and why
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Alpha 1 -6 and alpha 1 -4
HDL
Kwashiorkor - small child with swollen belly

33. Fluorescent DNA or RNA probe binds to specific gene of interest - used for specific localization of genes and direct visualization of anomalies - like microdeletions - at molecular level
Procollagen - triple helix of 3 alpha collagen chains
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Dermatitis - enteritis - alopecia - adrenal insuff
FISH

34. What is the function of biotin
GTP
African Americans and Asians
Cytosol
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase

35. depression - progressive dementia - choreiform movements - caudate atrophy and dec levels of GABA and ACH in the brain
Chylomicrons
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
Citrate - acetyl coa from mito to cyto
Huntingtons

36. What is imprinting and give an example

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37. Which antihelminthe drugs work on microtubules
Mebendazole/thiabendazole
Anabolic processes as a supply of reducing equivalents
RRNA
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL

38. What converts NE to epi
B48 - AIV - CII - E
Antibiotic use or excessive ingestion of raw eggs
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Phenylethamolamine N methyl transferase

39. In what cells do the respiratory burst occur
Catabolic processes to carry reducing equivalents away as NADH
Cri du chat
PMNs
FAP

40. What is the purpose of the HMP shunt
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Williams syndrome
African Americans and Asians

41. How is ATP used by the cell
Adenosine to inosine
Alpha 1 -4 glucosidase
ATP hyrdolysis couple to energetically unfavorable rxns
Myeloperoxidase

42. What does the golgi assemble proteoglycans from
O- oligosaccharaides
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Transfers methyl units
Core proteins

43. What are the reactants for glycolysis
HMG- CoA (HMG- CoA to mevalonate
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Glucose - 2Pi - 2ADP - 2NAD+
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

44. What do def in in enzymes of gluconeogenesis cause
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Metanephrine
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Hypoglycemia

45. What does hormone sensitive lipase do
Degradation of TG stored in adipocytes
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Dec DNA - dec lymphos leads to SCID

46. What substance inside the cell serves to oxidize glutatione
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Peroxide
75 to 90 - cloverleaf
Dermatitis - enteritis - alopecia - adrenal insuff

47. What enzyme adds Cl - to the H202 to makes bleach
Only processed RNA
UGA - UAA and UAG
Acetyl - CoA to malonyl - CoA (2C to 3C)
Myeloperoxidase

48. What is kartageners syndrome
Marasmus - muscle wasting
Niacin - constituent of NAD and NADP - derived from tryptophan
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
2 rings

49. An inability to convert orotic acid to UMP would be caused by a deficiency either of which two enzymes

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50. What is the complication of cystinuria
Neg to pos
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond