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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 is the defect in I- hyperchylomicronemia
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
HMG- CoA (HMG- CoA to mevalonate
Only processed RNA
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA

2. What substance inside the cells replenishes NADPH
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side
Liver and leafy veggies
Disease
G6PD

3. What is the TX for PKU
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Schwann cells - lens - retina - kidneys
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
PMNs

4. What does helicase do
Unwinds DNA template at replcation fork
Sulfation
Antibiotic use or excessive ingestion of raw eggs
Dermatitis - enteritis - alopecia - adrenal insuff

5. How many ATP are produced by anearobic glycolysis per molecule of glucose
N to C
Two
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
75 to 90 - cloverleaf

6. What shape does the RNA generate during splicing and why?
Alpha - ketoglutarate dehydrogenase complex
Glucose 6 phosphate dehydrogenase (G6PD)
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Lariat shape in order and remove intron precisely and join 2 exons

7. What enzyme catalyzes the rxn from pyrvuate to Acetyl - CoA and what inhibits it
X- linked recessive
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Oxidizes substrate
Phenylalanine

8. What does the TCA cycle produce per 1 acetyl CoA
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Methionine encode by only 1 codon (AUG)
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)

9. What are the symptoms of vit A excess
ATP hyrdolysis couple to energetically unfavorable rxns
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Protective against malaria
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

10. What are the irreversible enzymes of gluconeogenesis
Paclitaxel
Same AA - often base change in 3rd position of codon (tRNA wobble)
LDL
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase

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

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12. What produces NADPH
HMP shunt
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
L form

13. What are the glucogenic essential amino acids
Met - val - arg his
Creat a nick in the helix to relieave supercoils created during replication
CGG
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes

14. What enzyme converts glucose 1 p to UDP glucose
UDP glucose pyrophosphorylase
Metanephrine
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)
Fructose 1 -6 bisphosphate

15. What tissues have both enzymes of sorbitol metabolism
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Catabolic processes to carry reducing equivalents away as NADH
Liver - ovaries - seminal vesicles

16. What are the findings in Lesch - Nyhan
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Inhibit DNA gyrase specific for prokaryotic topoisomerase

17. What apolipoproteins are on IDL
Malapsorption syndromes like sprue or CF or mineral oil intake
B100 and E
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Heterochromatin = HighlyCondensed

18. What are the physical findings of fragile x syndrome
Base + ribose
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

19. How do labile celss grow and regenerate and What are examples
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Acetoacetate and beta hydroxybutyrate
ATP and alanine
Prevent strands from reannealing

20. What happens in vit K def
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
HVA
Consesus sequenec of base pairs
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive

21. Which type of chromatin is condensed - transcriptionally inactive - sterically inaccessible?
Heterochromatin = HighlyCondensed
Poly A polymerase - signal is AAUAA
O- oligosaccharaides
Consesus sequenec of base pairs

22. telangiectasia - recrrent epistaxis - skin discolorations - AVMs
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Unwinds DNA template at replcation fork
32 - malate aspartate shuttle
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)

23. What enzyme degrades a small amount of glycogen in lysosomes
Exercise: inc NAD/NADH - inc ADP - inc Ca
Alpha 1 -4 glucosidase
African Americans and Asians
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs

24. What is the result of vit B5 def
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Dermatitis - enteritis - alopecia - adrenal insuff
Adds an inorganic phosphate onto substrate without using ATP
Oligomycin

25. What does desmin stain for
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
1 -25 OH2 D3 = calcitriol
Muscle
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

26. What do neurofilaments stain for
Neurons
Phosphofructokinase 1
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Liver and leafy veggies

27. What test is used for B12 def
Schilling test
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
40 - 60 - 80

28. What does degenerate/rundant genetic code refer to...
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Vincritsine/vinblastine
More than 1 codon may code for the same amino acid
Tuberous sclerosis

29. In what cells do the respiratory burst occur
PMNs
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Anabolic processes as a supply of reducing equivalents
9+2 arrangement of microtubules

30. What is the activated carrier for 1 carbon units
TRNA
THFs
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side

31. What does osteogenesis imperfecta causes and why
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
Supply sufficient glucose to brain and RBCs and to preserve protein
Muscle
Neimann - pick - sphingomyelinase - sphingomyelin - AR

32. Why enzyme breaks down elastin and what enzyme inhibits it
Elastase - inhibited by alpha1 antitrypsin
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver

33. What two cells are particularly rich in RER
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Mucus secreting globlet cells and antibody secreting plasma cells
Abnormal protein folding - degradation before reaching cell surface
ADPKD

34. What is maternal PKU
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Intermediate filaments
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
II - VII - IX - X (1972) protein C and S

35. What causes Hartnup's disease
Asp and Glu
Oligomycin
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Binds 50S - blocking translocation

36. What is the wernicke - korsakoff clinical picture
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Ca/calmodulin in muscle to coordinate with muscle activity
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Asp and Glu

37. What are the characteristics of angelmans syndrome and How does it occur
Glucose - 2Pi - 2ADP - 2NAD+
Nonsense > missense > silent
More than 1 codon may code for the same amino acid
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele

38. What is the activated carrier for Acyl
After citruline
APRT + PRPP
Flank pain - hematuria - HTN - progressive renal failure
Coenzyme A - lipoamide

39. How is ammonium transported from muscle to the liver for urea cycle
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
HDL
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Mebendazole/thiabendazole

40. What do DNA topoisomerases do
Creat a nick in the helix to relieave supercoils created during replication
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Pyruvate - NAD+ - CoA
Met - val - arg his

41. What happens in zinc def
Hypoglycemia
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Dopamine beta hydroxylase
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis

42. What happens at the smooth ER
Site of steroid synthesis and detoxification of drugs and poisons
Tropoelastin with fibrillin scafolding
FAP
Euchromatin

43. What form of amino acids are found in proteins
NF2 on chromosome 22
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
L form

44. What are the reactants for glycolysis
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Glucose - 2Pi - 2ADP - 2NAD+
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease

45. central and peripheral demyelination with ataxia and dementia
Degradation of TG stored in adipocytes
ADPKD
Keep glutathione reduced so it can detoxify free radicals and peroxides
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR

46. What is the defectin IV - hypertriglyceridemia
Flank pain - hematuria - HTN - progressive renal failure
RNA
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
HGPRT - defective purine salvage - excess uric acid production

47. What converts NE to epi
Phenylethamolamine N methyl transferase
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
HVA
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1

48. What happens with wet beriberi
Q -
High output cardiac failure - dilated cardiomyopathy - edema
Mebendazole/thiabendazole
Carnitine acyltransferase I

49. What shuttle is involved in fatty acid synthesis and What does it move From where to where
APC on chromosome 5
Citrate - acetyl coa from mito to cyto
Fasting
Inhibit DNA gyrase specific for prokaryotic topoisomerase

50. What is kartageners syndrome
Tyrosine
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Acetyl - CoA
Cre - lox system