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Biochemistry

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1. What does acetyl - CoA become before becoming palmitate
Assistance of upper extremities to stand up
Result from phagocytic removal of heinz bodies my macs - G6PD def
Liver hepatocytes and steroid producing cells of the adrenal cortex
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)

2. What is the limiting reagent in EtOH metabolism
Nature and severity of phenotype vary from 1 individual to another - NF type 1
CGG
Actin and myosin
NAD+

3. What enzyme converts adenine to AMP
APRT + PRPP
Degradation of TG remaining in IDL
Deamination
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase

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

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5. What are the irreversible enzymes of gluconeogenesis
Heterochromatin = HighlyCondensed
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase

6. In a 1000 meter run - Where does energy come from
Accelearted muscle breakdown
Hyperlipidemia
Same as sprint + OXPHOS
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1

7. What is the Name and fxn of vit B5
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
UGA - UAA and UAG
P2 +2pq+ = 1

8. What shuttle is used in fatty acid degredation and What does it move and From where to where
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Avidin
Carnitine shuttle - acyl - coa from cyto to mito
Lacks glucose 6 phophatase

9. If two alleles are present - but the active allele is deleted - what happens
Base + ribose + phosphate (3' -5') phosphodiester bond
Disease
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.

10. What are the results of CF on male fertility
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
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
Males are infertile due to bilateral absence of vas deferens
Abnormal protein folding - degradation before reaching cell surface

11. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
40 - 60 - 80
Sulfation
CFTR gene - 7 - Phe 508

12. What converts NE to epi
SnRNPs and other proteins
Phenylethamolamine N methyl transferase
Antibiotic use or excessive ingestion of raw eggs
Niacin - constituent of NAD and NADP - derived from tryptophan

13. What does vit E def cause
Brittle bone disease - most commonly lead AD with abnl type I collagen causing multiple fractures with minimal trauma - blue sclerae due to translucency of connective tissue over the choroid - hearing loss - dental imperfections due to lack of dentin
Conversion of NE to epi
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
African Americans and Asians

14. What does NADPH oxidase deficiency result in and why
Achondroplasia
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Locus heterogeneity - ocular albinism is x- linked recessive
If pt inherits or develops a mutation in a tumor suppresor gene - the complementary allele must be deleted/mutated before cancer develops - not true of oncogenes - retinoblastoma

15. Where is fructose 1 -6 bisphosphatase found and What does it do
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Alpha 1 -4 glucosidase
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Mediates extra remnant take up

16. In which single strand DNA repair mechanism do specific endonucleases release the oligonucTIDE containing bases and DNA poly and ligase fill and reseal - and what disease occures when this is mutated
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Protein
Cre - lox system
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1

17. What is the activated carrier for phosphoryl
ATP
P+q = 1
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
Cartilage - hyaline - vitreous body - nucleus pulposus

18. trinucleotide repeat for huntingtons
Glycogen synthase
Ca/calmodulin in muscle to coordinate with muscle activity
CAG
Transfers methyl units

19. What is the energy source after day 3 of starvation
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
High output cardiac failure - dilated cardiomyopathy - edema
Cri du chat
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles

20. What enzyme catalyzes the rxn from pyrvuate to Acetyl - CoA and what inhibits it
Oligomycin
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Acetyl - CoA
Mediates chylomicron secretion

21. What ribosomes do prokaryotes have
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
30 - 50 - 70
Free ribosomes
RRNA

22. What is dominant negative mutation and give an example
Exerts a dominant effect - a heterozygote produces a nonfxnal altered protein that also prevents the normal gene from functioning - mutation of Tx factor its allosteric site - nonfxning mutant can still bind DNA - preventing wild type Tx from binding
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
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
Fibroblast

23. What does a decrease in decrease in NADPH lead to and why
Procollagen - triple helix of 3 alpha collagen chains
Exons
Liver hepatocytes and steroid producing cells of the adrenal cortex
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

24. Type III collagen
G6PD
17 - 17 letters in von Recklinghausen
F16BP
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue

25. What two rxns in in glycolysis require ATP
Mental retardation - flat facies - prominent epicanthal folds - simian crease - gap between 1st 2 toes - duodenal atresia - congenital heart disease (ASD) - inc risk of All and Alzheimers
Poly A polymerase - signal is AAUAA
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Protein

26. 90% of ADPKD cases are due to a mutation In what gene
Acetyl - CoA
Breaks down acyl - coa to acetyl coa groups in mito
APKD1 on chromosome 16
Microarrays

27. What is the results of vit B1 def
Avidin
Leu - lys
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
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

28. What is NADPH used for
Wernicke - korsakoff - dry and wet beriberi
Anabolic processes as a supply of reducing equivalents
Hyperlipidemia
Two

29. What are CDKs
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Cyclin dependent kinases;constitutive and inactive
P+q = 1

30. Mediates reverse cholesterol transport from periphery to liver - acts as respository for apoC an apoE - secreted from both liver and small intestine
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
ATP and alanine
3' end (with CCA)
HDL

31. What apolipoprotein is on LDL
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
MRNA
B100
Activates LCAT

32. How many ATP are created by aerobic metabolism of glucose in the heart and liver via what shuttle
Silencers
They yield only acetyl - CoA equivalents
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
32 - malate aspartate shuttle

33. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
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
1 -25 OH2 D3 = calcitriol
Ribose 5- P to PRPP
Dec DNA - dec lymphos leads to SCID

34. What is pleiotropy and given an example
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Evident in first few days of life - can present last onest - excess carbamoyl phosphate converted to orotic acid - orotic acid in blood and urine - dec BUN and symptoms of hyerpammonemia
O- oligosaccharaides

35. progressive neurodegeneration - hepatosplenomegaly - cherry red spot on macula - foam cells
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Marfans

36. What is the energy source in the fed state right after a meal
Creat a nick in the helix to relieave supercoils created during replication
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
Glycolysis and aerobic respiration
Neither of 2 alleles is dominant - blood groups

37. Delivers hepatic cholesterol to peripheral tissues - formed by LPL modification of VLDL in the peripheral tissue - taken up by target cells via RME
LDL
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
Glycogen phosphorylase
Kidney - ears - eyes

38. What can vit B3 be used to treat
Hyperlipidemia
Activates LCAT
Inc Cl - in sweat
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism

39. What makes up a nucleotide

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40. What is Retin A used topically for
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
DTMP
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Wrinkles and acne

41. Is there any requirement for homology in NHEJ
17 - 17 letters in von Recklinghausen
No - its non homologous
Hypoglycemia
Stored ATP - creatine phosphate - anaerobic glycolysis

42. What rxn does propionyl - CoA carboxylase catalyze
Protein kinase A
Oxidative and nonoxidative - no ATP produced or used
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

43. How does ethanol induce hypoglycemia
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
No
TRNA
Nissl body - enzyme and NTs

44. What shape does the RNA generate during splicing and why?
HMP shunt
Lariat shape in order and remove intron precisely and join 2 exons
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
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)

45. What does GFAP stain for
Phenylethamolamine N methyl transferase
75 to 90 - cloverleaf
Neuralgia
Orotate precursor - with PRPP added later

46. What is the defect in I- hyperchylomicronemia
Hypoglycemia
Isocitrate dehydrogenase
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

47. What is the structure of elastin
Blood - bone marrown - amniotic fluid - placental tissue
Tropoelastin with fibrillin scafolding
SnRNPs and other proteins
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

48. In mismatch repair - which strand is recognized and In what hereditary syndrome is this defective
Site of steroid synthesis and detoxification of drugs and poisons
Epithelial cells
By inhibiting formation of the initiation complex and cause misreading of mRNA
Unmethylated - newly synthesized - HNPCC

49. Infection with what organism can cause B12 def
III - joint dislocation - anuerysms - organ rupture
Diphyllobothrium latum
Fed
Alpha - ketoglutarate dehydrogenase complex

50. What happens in a B12 def
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Inc melt - dec fluidity

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Biochemistry

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