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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 does hartnups disease cause
NAD+
Accelearted muscle breakdown
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra

2. Formed and degradation of VLDL - delivers TGs and cholesterol to liver where they are degraded to LDL
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
IDL
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia

3. How do you diagnose CFTR
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
Scrutinizes - hydrolyzes the bond
Inc Cl - in sweat
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15

4. What are cyclins
By inhibiting formation of the initiation complex and cause misreading of mRNA
Blood - bone marrown - amniotic fluid - placental tissue
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Same AA - often base change in 3rd position of codon (tRNA wobble)

5. How many rings do purines have
2 rings
Nine
32 - malate aspartate shuttle
Mitochondria

6. Which anti breast cancer drugs work on micortubules
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Paclitaxel
SAM
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first

7. Which anti gout drugs work on microtubules
Colchicine
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Chylomicrons
Transmitted only through mother - all offspring of affected females may show signs of disease

8. Delivers dietary TGs to peripheral tissues - delivers cholesterol to liver in the form of remnants - mostly depleted of TGs - secreted by intestinal epith cells
Acetly- CoA - CO2 - NADH
Chylomicrons
Oxalacetate
Supply sufficient glucose to brain and RBCs and to preserve protein

9. What is the smallest mutation a mircoarray can detect
4 under the floor
Arg and his inc in histones Which bind negatively charged DNA
SNP
After citruline

10. How do tetracyclines work
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Inc Cl - in sweat
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)

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

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12. What are the results of unbalanced translocation
Silencers
UDP glucose pyrophosphorylase
Flank pain - hematuria - HTN - progressive renal failure
Miscarriage - stillbirth - chromosomal imbalance (down - patau)

13. What are the glucogenic/ketogenic amino acids
Phenylalanine hydroxylase
Ile - phe - thr - trp
Supply sufficient glucose to brain and RBCs and to preserve protein
Epithelial cells

14. What does a phosphorylase do
Adds an inorganic phosphate onto substrate without using ATP
SNP
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Robertsonian translocation and mosaicism

15. What is the mutation in beckers muscular dystrophy - What is the severity and time of onset
Mutated dystrophin gene - less severe - adolescence
40 - 60 - 80
Accelearted muscle breakdown
Removes phosphate group from substrate

16. hepatosplenomegaly - aseptic necrosis of femur - bone crisis - MACS that look like crumpled tissue paper

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17. What is the RDE of cholesterol synthesis
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
HMG- CoA reductase
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

18. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
ATP hyrdolysis couple to energetically unfavorable rxns
Dec DNA - dec lymphos leads to SCID
NADH - NADPH - FADH2
1 -25 OH2 D3 = calcitriol

19. What is the defect in II A familial hypercholesterolemia
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
B100 and E
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Creat a nick in the helix to relieave supercoils created during replication

20. What is the RDE of de novo purine synthesis
Glutamine PRPP amidotransferase
Infection - free radicals generated by inflammatory response
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Promotor - TATA box - and CAAT box - AT rich

21. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Lariat shape in order and remove intron precisely and join 2 exons
Antioxidant - protects RBCs and membrances from free radical damage
FAP

22. What happens at the smooth ER
Dopamine beta hydroxylase
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Biotin
Site of steroid synthesis and detoxification of drugs and poisons

23. What is proteasomal degredation
Attachment of ubiquitin to defective proteins tag them for breakdown
Active secretion in lungs and GI - reabsorbs in skin
Adenosine to inosine
Neither of 2 alleles is dominant - blood groups

24. What apolipoprotein is on LDL
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
B100

25. What is the activated carrier for Co2
Changed AA (convservative - new AA is similar in chemical structure)
DNA
Acetyl - CoA carboxylase (ACC)
Biotin

26. Name 5 drugs that interfere with nucleotide synthesis
Glycogen and FFA oxidation; glucose conserved for final sprinting
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Ribose 5- P to PRPP
NADPH

27. What substance inside the cell reduces glutatione
NADPH
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
III - joint dislocation - anuerysms - organ rupture
Cleft palate - cardiac abnl - pregs test

28. 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
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
9+2 arrangement of microtubules
Glycine - aspartate - glutamine

29. What is the activated carrier for Acyl
OTC has hyperammonemia - orotic aciduira does not
Coenzyme A - lipoamide
CGG
Miscarriage - stillbirth - chromosomal imbalance (down - patau)

30. several distinct syndromes characterized by familial tumors of endocrine glands including pancreas - parathyroid - pituitary - thryoid and adrenal medulla - disorders and gene association
Familial hypercholesterolemia - hyperlipidemia type IIA
Liver - ovaries - seminal vesicles
MEN - 2A and 2B with ret gene
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)

31. What enzyme converts adenine to AMP
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
B48 - AIV - CII - E
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
APRT + PRPP

32. Describe the location and fxn of the Na/K ATPase
Von gierkes - glucose 6 phosphatase
Purines= A - G pyrimidine = C - T (U)
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side

33. What is chediak higashi
APC on chromosome 5
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
UDP glucose pyrophosphorylase

34. What happens with dry beriberi
Polyneuritis - symmetrical muscle wasting
SAM
CGG
SnRNPs and other proteins

35. What apolipoproteins are on IDL
Carbomoyl phosphate synthetase I
B100 and E
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)
Promotor - TATA box - and CAAT box - AT rich

36. What does vit B3 def result in
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Neurofibromatosis type 1 (von Recklinghausens disease)
Proline and lysine - vit C
Asp and Glu

37. What is NADPH used for
Dermatitis - alopecia - enteritis
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Anabolic processes as a supply of reducing equivalents
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria

38. Which phase of the HMP shunt is reversible and Which is irreversible
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
In ER - glucose 6- P to glucose
Oxidative is irreversible
Hyperlipidemia

39. What substance accumulates in galactokinase def and What is the clinical picture
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Glutamine PRPP amidotransferase
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies

40. What is the energy source for tRNA actication (charging)
Arg and his inc in histones Which bind negatively charged DNA
ATP
Robertsonian translocation and mosaicism
Proline and glycine (non glycosylated forms)

41. What are the products for glycolysis
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Sucrose = glucose + fructose - lactose = glucose + galactose

42. What is the most common urea cycle disorder and What is the mode of inheritance?
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Phenylethamolamine N methyl transferase
Poly A polymerase - signal is AAUAA

43. What reaction does adenosine deaminase normally catalyze
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Malapsorption syndromes like sprue or CF or mineral oil intake
Adenosine to inosine
TTP

44. What does apoE do
No - its non homologous
Defect in fibrillin
Mediates extra remnant take up
Transfers methyl units

45. What substances are uncouling agents
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Leu - lys
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
2 -4 DNP - aspirin

46. What is the activated carrier for 1 carbon units
L form
Vit K antagonist
THFs
IDL

47. pyruvate carboxylase catalyzes what rxn
Pyruvate to oxaloacetate (3C to 4C)
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
Cleft palate - cardiac abnl - pregs test
Inc permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat

48. What is codominance and give an example
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Neither of 2 alleles is dominant - blood groups
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Seals.

49. cardiomegaly - systemic findings leading to early death - dz and enzyme

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50. Type II cartilage
Histidine
ATP - citrate
CarTWOlage
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine