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Biochemistry

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1. How many nucTIDEs is a tRNA and What does the secondary sturcture form
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
30 - glycerol -3- phosphate shuttle
75 to 90 - cloverleaf

2. Synthesis of vit B3 requires what other vitamin
Degredation of TG circulating in chylomicrons and VLDLs
B6
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Read from a fixed starting point as a continuous sequence of bases

3. What are ketone bodies made from - where are they metabolized and how are they excreted
Essential fructosuria - fructokinase AR
Proline and glycine (non glycosylated forms)
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Flagella - cilia - mitotic spindles

4. What are the mRNA stop codons
UGA - UAA and UAG
Coenzyme A - lipoamide
Glutamate
Alpha1 antitrypsin

5. In a 1000 meter run - Where does energy come from
Same as sprint + OXPHOS
UGA - UAA and UAG
UDP glucose pyrophosphorylase
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

6. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
Robertsonian translocation and mosaicism
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Dec DNA - dec lymphos leads to SCID
Neurons

7. Why is albinism inheritnace varialbe due to...
Locus heterogeneity - ocular albinism is x- linked recessive
NADPH
Mucus secreting globlet cells and antibody secreting plasma cells
Collagen

8. What bone disorder has x linked dominant inheritance
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Palate - facial and cardiac defects
Cri du chat
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation

9. What causes maple syrup urine disease and What does it lead to...
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
SNP
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Neurofibromatosis type 1 (von Recklinghausens disease)

10. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
Purines= A - G pyrimidine = C - T (U)
Palate - facial and cardiac defects
Pyruvate - NAD+ - CoA
Euchromatin

11. What is the prevalence of an X- linked recessive disease in males and in females
Only processed RNA
Q -
Lysine and leucine
Specific glycosylases - AP endonuclease

12. Which antifungal drugs work on microtubules
Williams syndrome
Griseofulvin
Autosomal recessive diseases
2 -4 DNP - aspirin

13. How is vit D stored
Kwashiorkor - small child with swollen belly
25OHD3
Males are infertile due to bilateral absence of vas deferens
Arg - lys - his - arg is most basic - has has no charge at body pH

14. What regulates whether FBPase -2 or PFK-2 is active
Mucus secreting globlet cells and antibody secreting plasma cells
Protein kinase A
Nissl body - enzyme and NTs
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

15. What drugs can cause folate def
Mutated dystrophin gene - less severe - adolescence
Phenytoin - MTX - and sulfonamides
Nissl body - enzyme and NTs
SNP

16. What substances are uncouling agents
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
2 -4 DNP - aspirin
Modifies N- oligosaccharides
Chronic granulomatous disease - no respiatory burst - no formatino of ROS

17. What is the TX for CF and What does it do
Pyruvate to oxaloacetate (3C to 4C)
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Oxalacetate

18. characterize x linked recessive
Alpha and beta tubulin - dimers have two GTP bound
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
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Wernicke - korsakoff - dry and wet beriberi

19. What defects characterize velocardiofacial syndrome
RER
Karyotyping
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Palate - facial and cardiac defects

20. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
CG- 3 > AT-2 - More CG content - melting point goes up
Same as sprint + OXPHOS
Polyneuritis - symmetrical muscle wasting

21. What metabolic rxns occur in the cytoplasm
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
9+2 arrangement of microtubules
F16BP
SnRNPs and other proteins

22. What does inc phenylalanine lead to...
Blood - bone marrown - amniotic fluid - placental tissue
Phenylketones in urine
Arg and his inc in histones Which bind negatively charged DNA
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase

23. What tissues have only aldose reductase
Schwann cells - lens - retina - kidneys
Deamination
Disease
Williams syndrome

24. Which direction does dynein go
NADPH
Post to neg
3' end (with CCA)
Same as sprint + OXPHOS

25. What enzyme converts adenine to AMP
Superoxide dismutase
APRT + PRPP
1 kind with multiple subunits
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

26. How do microtubules grow and collapse
Grows slowly - collapses quickly
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Protein kinase A
Marfans

27. What happens in vit B2 def
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
HMG- CoA reductase
Actin and myosin

28. What part of the pre mRNA contains the actual genetic information coding for protein
Exons
Glucose 6 phosphate dehydrogenase (G6PD)
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Phosphofructokinase 1

29. Inhibition of thymidilate synthase and and DHFR lead to decrease In what substance
Must be both activated and inactivated for cell cycle to progress
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
DTMP
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)

30. Giving folate during early pregnancy is important to prevent what birth defects
Sulfation
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Neural tube
Inhibits 50S peptidyltransferase

31. How is Lesch Neyhan inherited
Disease
X- linked recessive
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

32. What collagen type is most frequently affected in ehlers danlos and What are common complications
III - joint dislocation - anuerysms - organ rupture
Inc vit B6
Orotate precursor - with PRPP added later
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase

33. How do odd chain fatty acids participate in gluconeogenesis
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
II - VII - IX - X (1972) protein C and S
ATP - citrate
Seals.

34. What step of uric acid synthesis does xanthine oxidase catalyze
Hypoxanthine to xanthing and xanthine to uric acid
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Methionine encode by only 1 codon (AUG)

35. What does a southern blot use as its sample
Palate - facial and cardiac defects
GAA
DNA
Locus heterogeneity - ocular albinism is x- linked recessive

36. What are the purely ketogenic amino acids
Mcardle's - skeletal muscle glycogen posphorylase
Silencers
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Leu - lys

37. What is the pathway in the fed state leading to dec FBPase -2 and inc PFK-2
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
The triphosphate bond
Inc insulin - dec cAMP - dec PKA
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

38. What is the Name and function of vit B1
Acetoacetate and beta hydroxybutyrate
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Von Gierke's - Pompe - Cori - McArdle
Oxidative and nonoxidative - no ATP produced or used

39. What is the Name and fxn of vit B12
NADPH
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
ADPKD

40. What are Heinz bodies
Oxidized hemoglobin precipiated within RBCs
HDL
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Neurofibromatosis type 1 (von Recklinghausens disease)

41. What neuroanatomical strutures are injured in wernicke - korsakoff
Medial dorsal nucleus of thalamus - mamillary bodies
Blood - bone marrown - amniotic fluid - placental tissue
P+q = 1
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP

42. What does amino acid catabolsim results in the formation of what?
Coenzyme A - lipoamide
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Zero

43. In which structures do you find microtubules
Oxalacetate
Flagella - cilia - mitotic spindles
VLDL
Autosomal recessive diseases

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

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45. What is the hardy weinber heterozygote prevalence
HMG- CoA (HMG- CoA to mevalonate
Sulfation
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
2pq

46. Why does alpha amanitin cause liver failure and Where is it found
Inhibits RNA polymerase II - found in death cap mushrooms
Infection - free radicals generated by inflammatory response
CarTWOlage
Tuberous sclerosis

47. What does universal genetic code refer to and What are some exception
Inhibits RNA polymerase II - found in death cap mushrooms
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Inhibits the Na/K pump by binding the K side
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels

48. Give an example of a mitochondrial inherited disease
Glycogen synthase
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
GTP

49. What is a missense mutation
Oxidizes substrate
Changed AA (convservative - new AA is similar in chemical structure)
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations

50. What does desmin stain for
Inhibit DNA gyrase specific for prokaryotic topoisomerase
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
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Muscle

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