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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 rate determining enzyme (RDE) of glycolysis
Binds 50S - blocking translocation
Colchicine
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Phosphofructokinase 1

2. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
30 - glycerol -3- phosphate shuttle
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Heterochromatin = HighlyCondensed

3. Leysh - Nyhan syndrome is a defect in which enzyme and What are the biochemical results
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
1 -25 OH2 D3 = calcitriol
Stop codon is recognized by release factor - and completed protein is released from ribosome
HGPRT - defective purine salvage - excess uric acid production

4. progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

5. fibrillin defect leading to connective tissue disorder affecting skeleton - heart - and eyes
Locus heterogeneity - ocular albinism is x- linked recessive
Rb and p53
Makes RNA primer on which DNA poly III can initiate replication
Marfans

6. What is RNAi used for
African Americans and Asians
DsRNA promotes degradation of target mRNA knocking down gene expression
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year

7. How is vit D stored
25OHD3
Dopamine beta hydroxylase
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

8. What kind of RNA is transported out of the nucleus
Only processed RNA
Acetly- CoA - CO2 - NADH
Muscle
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US

9. characterize autosomal domint inheritance
NAD+
Enhancers
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
B6

10. What is the RDE of fatty acid oxidation
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Glycogen and FFA oxidation; glucose conserved for final sprinting
Carnitine acyltransferase I
After citruline

11. What is the RDE of the HMP shunt
II - VII - IX - X (1972) protein C and S
Glucose 6 phosphate dehydrogenase (G6PD)
G6PD
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first

12. How do fluoroquinolones work
ATP and alanine
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Inhibit DNA gyrase specific for prokaryotic topoisomerase
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

13. What metabolic rxns occur in both the cytoplasm and mitochondria
Attachment of ubiquitin to defective proteins tag them for breakdown
B48 - AIV - CII - E
Glutamine PRPP amidotransferase
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two

14. How does insulin inhibit glycogenolysis
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Familial hypercholesterolemia - hyperlipidemia type IIA
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Krabbes - galactocerebrosidase - galactocerebroside - AR

15. What is disulfiram used for
Actin and myosin
Rotenone - CN- - antimycin A - CO
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms

16. Give an example of a mitochondrial inherited disease
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Two
75 to 90 - cloverleaf
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond

17. What apolipoprotein is on LDL
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
P+q = 1
L form
B100

18. In which direction is protein synthesized
N to C
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Leu - lys
Intermediate filaments

19. What are bite cells and when do you see them
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
ATP - citrate
Result from phagocytic removal of heinz bodies my macs - G6PD def
Chylomicrons

20. What is locus heterogeneity and give an example
Degredation of TG circulating in chylomicrons and VLDLs
Base + ribose + phosphate (3' -5') phosphodiester bond
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two

21. What does the golgi do to sugars in proteoglycans and of selected tyrosine on proteins
Free ribosomes
Sulfation
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Arg - lys - his - arg is most basic - has has no charge at body pH

22. What causes patau's syndrome and What is it
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
By inhibiting formation of the initiation complex and cause misreading of mRNA
SnRNPs and other proteins
III - joint dislocation - anuerysms - organ rupture

23. What are cyclin - CDK complexes
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Infection - free radicals generated by inflammatory response
Must be both activated and inactivated for cell cycle to progress
Mutated dystrophin gene - less severe - adolescence

24. What is the main source of folate
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
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Foliage - small reserve in liver - eat green leaves
Carbomoyl phosphate synthetase I

25. What does degenerate/rundant genetic code refer to...
More than 1 codon may code for the same amino acid
Foliage - small reserve in liver - eat green leaves
Result from phagocytic removal of heinz bodies my macs - G6PD def
Arg - lys - his - arg is most basic - has has no charge at body pH

26. What does lactase deficiency cause
Binds to LDL receptor - mediates VLDL secretion
Glycogenolysis to form glucose
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
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

27. What makes up a nucleoside
RRNA
Base + ribose
Unwinds DNA template at replcation fork
Adds an inorganic phosphate onto substrate without using ATP

28. What creates the musty body odor in PKU
Pseudomonas and s aureus
Disorder of aromatic amino acid metabolism
Inhibits RNA polymerase II - found in death cap mushrooms
Site of steroid synthesis and detoxification of drugs and poisons

29. What are uncoupling agents
DNA
Cartilage - hyaline - vitreous body - nucleus pulposus
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
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

30. What does the vimentin stain for
APKD1 on chromosome 16
30 - 50 - 70
Connective tissue
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

31. What does Adenosine deaminase deficiency cause a build up of - and What does that lead to?
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Heterochromatin = HighlyCondensed
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Ketone - methyl

32. What is the active form of vit D
VLDL
Dec methionine - inc cystiene - inc B12/folate
1 -25 OH2 D3 = calcitriol
Mcardle's - skeletal muscle glycogen posphorylase

33. What is the RDE of ketogenesis
HMG- CoA synthase
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Lysine and arginine
Elastase - inhibited by alpha1 antitrypsin

34. How many rings do purines have
2 rings
Inc CPK and muscle biopsy
Initiate chains
Flank pain - hematuria - HTN - progressive renal failure

35. What are the clinical features of I cell diesase
CAG
Abnormal protein folding - degradation before reaching cell surface
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step

36. What are the irreversible enzymes of gluconeogenesis
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
LDL
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL

37. peripheral neuropathy - developmental delay - optic atrophy - glopoid cells
Skin
No - its non homologous
Neg to pos
Krabbes - galactocerebrosidase - galactocerebroside - AR

38. What does a phosphatase do
They yield only acetyl - CoA equivalents
Removes phosphate group from substrate
Nine
Liver and leafy veggies

39. What happens in hyperammonemia
Isocitrate dehydrogenase
Ribose 5- P to PRPP
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision

40. Type II cartilage
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
AMP - fructose 2 -6 BP
Mucus secreting globlet cells and antibody secreting plasma cells
CarTWOlage

41. What enzyme does fructose metabolism bypass to reach glycolysis
4 under the floor
PFK - rate limiting enzyme
Neuralgia
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

42. What happens in vit D excess
Degredation of TG circulating in chylomicrons and VLDLs
Dopa decarboxylase
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Skin

43. What converts NE to epi
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Phenylethamolamine N methyl transferase
Assistance of upper extremities to stand up
Base + ribose + phosphate (3' -5') phosphodiester bond

44. Name as many x- linked recessive disorders as you can

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45. What two cells are particularly rich in RER
Cytosol
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Mucus secreting globlet cells and antibody secreting plasma cells
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly

46. 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
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
FISH
SNP
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue

47. characterize mitochondrial inheritance
Transmitted only through mother - all offspring of affected females may show signs of disease
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
More than 1 codon may code for the same amino acid

48. In a marathon Where does energy come from
Glycogen and FFA oxidation; glucose conserved for final sprinting
Enhancers
CAG - 4
Secretion of abnl thick mucus that plugs lungs - pancreas - liver

49. What is the RER called in neurons and What is made there
Carnitine shuttle - acyl - coa from cyto to mito
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Nissl body - enzyme and NTs

50. What does helicase do
In ER - glucose 6- P to glucose
B6
Unwinds DNA template at replcation fork
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA