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Biochemistry

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1. What does hormone sensitive lipase do
Degradation of TG stored in adipocytes
Tryosine hydroxylase
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Protein kinase A

2. How do tetracyclines work
PFK - rate limiting enzyme
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Epithelial cells
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)

3. 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
FISH
Acetoacetate and beta hydroxybutyrate
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Changed AA (convservative - new AA is similar in chemical structure)

4. What is the Hardy Weinberg disease prevalence equation
P2 +2pq+ = 1
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

5. What shuttle is involved in fatty acid synthesis and What does it move From where to where
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Specific glycosylases - AP endonuclease
RRNA
Citrate - acetyl coa from mito to cyto

6. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Specific glycosylases - AP endonuclease
Abnormal protein folding - degradation before reaching cell surface
Hereditary spherocytosis
Proton gradient

7. metaphse chromosomes are stained - ordered and numbered according to morphology - size - arm length ratio - banding pattern
Karyotyping
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Krabbes - galactocerebrosidase - galactocerebroside - AR
VMA

8. telangiectasia - recrrent epistaxis - skin discolorations - AVMs
Abnormal protein folding - degradation before reaching cell surface
Inc melt - dec fluidity
Liver - ovaries - seminal vesicles
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)

9. What are the blood glucose levels maintained by for days 1-3
PMNs
RNA
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)
Alpha - ketoglutarate dehydrogenase complex

10. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
Must be both activated and inactivated for cell cycle to progress
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Eu - methionine - pro - formyl - methionine
Euchromatin

11. characterize autosomal domint inheritance
Metanephrine
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Cre - lox system
Dopamine beta hydroxylase

12. What does a carboxylase do
Adds 2 carbon with the help of biotin
Disease
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Phosphorylation - glycosylation - hydroxylation

13. RNA poly can't proofread - but What can it do
Metanephrine
Eu - methionine - pro - formyl - methionine
Facial flushing
Initiate chains

14. In a marathon Where does energy come from
B12 and folate
Glycogen and FFA oxidation; glucose conserved for final sprinting
RNA
Silencers

15. What is Gowers maneuver
Assistance of upper extremities to stand up
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Flagella - cilia - mitotic spindles
Stored ATP - creatine phosphate - anaerobic glycolysis

16. What metabolic rxns occur in the cytoplasm
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Palate - facial and cardiac defects
CarTWOlage
Colchicine

17. protein malnutrition resulting in skin lesions - edema and liver malfxn
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Wrinkles and acne
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Kwashiorkor - small child with swollen belly

18. What are the physical findings of fragile x syndrome
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Proton gradient
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse

19. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
III - joint dislocation - anuerysms - organ rupture
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Cartilage - hyaline - vitreous body - nucleus pulposus

20. in a 100 meter sprint Where does energy come from
Targets the proteins for lysosome
Stored ATP - creatine phosphate - anaerobic glycolysis
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Locus heterogeneity - ocular albinism is x- linked recessive

21. What does helicase do
Carbomoyl phosphate synthetase I
B6
Unwinds DNA template at replcation fork
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US

22. What is the RDE of the HMP shunt
Glucose 6 phosphate dehydrogenase (G6PD)
Diphyllobothrium latum
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
VMA

23. characterize mitochondrial inheritance
Transmitted only through mother - all offspring of affected females may show signs of disease
Tryptophan
X- linked recessive
HVA

24. characterize autosomal recessive inheritance
Collagen
Glycine
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
Lariat shape in order and remove intron precisely and join 2 exons

25. What amino acid makes up most of the octamer
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
30 - glycerol -3- phosphate shuttle
Lysine and arginine
Inhibits 50S peptidyltransferase

26. What is the RDE of gluconeogenesis
Fructose 1 -6 bisphosphate
B100
Biotin
RRNA

27. What is the function of biotin
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Inc CPK and muscle biopsy

28. What are the glucogenic/ketogenic amino acids
Ile - phe - thr - trp
AMP - fructose 2 -6 BP
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Facial flushing

29. What is the activated carrier for phosphoryl
ATP
RNA poly II
Cre - lox system
Cyclin dependent kinases;constitutive and inactive

30. What does a kinase do
BOne
Uses ATP to add high energy phophate group onto substrate
Liver - ovaries - seminal vesicles
Scrutinizes - hydrolyzes the bond

31. What is a missense mutation
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Changed AA (convservative - new AA is similar in chemical structure)
Silencers
Kidney - ears - eyes

32. 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
Conversion of NE to epi
Tuberous sclerosis
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Changed AA (convservative - new AA is similar in chemical structure)

33. Which part of the DNA binds RNA polymerase and multiple other TFs upstream from gene locus
Promotor - TATA box - and CAAT box - AT rich
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
RNA poly II
Lysine and leucine

34. What induces pyruvate kinase
Griseofulvin
F16BP
Anabolic processes as a supply of reducing equivalents
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side

35. What does osteogenesis imperfecta causes and why
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
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
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex

36. What trinucleotide repeat in Huntingtons and what chromosome is it found on...
PMNs
Malonyl coa
III - joint dislocation - anuerysms - organ rupture
CAG - 4

37. Which cells are rich in smooth ER
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Liver hepatocytes and steroid producing cells of the adrenal cortex
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

38. What happens in vit K def
Lariat shape in order and remove intron precisely and join 2 exons
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Cri du chat
Targets the proteins for lysosome

39. What does amino acid catabolsim results in the formation of what?
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Failure to track objects or develop a social smile
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Phosphorylation - glycosylation - hydroxylation

40. nucleotide repeat for fredreich's ataxia
Peroxide
Alpha 1 -6 and alpha 1 -4
Wrinkles and acne
GAA

41. What is pleiotropy and given an example
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Mcardle's - skeletal muscle glycogen posphorylase
No

42. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
CFTR gene - 7 - Phe 508
RER
Facial flushing

43. What is linkage disequilibrium
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Isocitrate dehydrogenase
CGG

44. What are pyrimidines made from
Stop codon is recognized by release factor - and completed protein is released from ribosome
Sucrose = glucose + fructose - lactose = glucose + galactose
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Orotate precursor - with PRPP added later

45. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Chylomicrons
Basement membrane or basal lamina
Oxalacetate
Neural tube

46. What causes Down syndrome
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Heterochromatin = HighlyCondensed
RNA poly II
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates

47. What does degenerate/rundant genetic code refer to...
More than 1 codon may code for the same amino acid
Intermediate filaments
Medial dorsal nucleus of thalamus - mamillary bodies
2pq

48. In which state is FBPase -2 active
HVA
Fasting
Glycogen and FFA oxidation; glucose conserved for final sprinting
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia

49. What does apoCII do
Cofactor for LPL
Mucus secreting globlet cells and antibody secreting plasma cells
Phenylethamolamine N methyl transferase
Acetyl - CoA

50. What does the ELISA test for
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
4 under the floor
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Antibiotic use or excessive ingestion of raw eggs

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Biochemistry

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