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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 pancreatic lipase do
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Degredation of dietary TG in small intestine
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Inhibits lipoic acid - vomiting - rice water stools - garlic breath

2. What is the amino acid precursor for GABA and glutathione
Glutamate
Particular sequence of DNA where replicatino begins - may be single of multiple
Glycogen and FFA oxidation; glucose conserved for final sprinting
Lactate

3. What happens in vit D def
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
III - joint dislocation - anuerysms - organ rupture
B48 - AIV - CII - E
Carbomoyl phosphate synthetase II

4. What is the amino acid precuros for niacin and serotonin/melatonin
Tropoelastin with fibrillin scafolding
Tryptophan
Chylomicrons
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)

5. What does Ehlers Danlos cause and why
32 - malate aspartate shuttle
Degredation of dietary TG in small intestine
Pseudomonas and s aureus
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints

6. What is axonemal dynein
Unwinds DNA template at replcation fork
Acetly- CoA - CO2 - NADH
Acetyl - CoA to malonyl - CoA (2C to 3C)
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

7. What is the fxn of vit E
Antioxidant - protects RBCs and membrances from free radical damage
Catabolic processes to carry reducing equivalents away as NADH
Inc CPK and muscle biopsy
Dopamine beta hydroxylase

8. depression - progressive dementia - choreiform movements - caudate atrophy and dec levels of GABA and ACH in the brain
Arginine
Schwann cells - lens - retina - kidneys
Huntingtons
Achondroplasia

9. How is vit D stored
25OHD3
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
No
Comlex II

10. Where is pyruvate carboxylase found - What does it do - What does it require amd What activates it
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Deamination
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Prevent strands from reannealing

11. What is locus heterogeneity and give an example
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Silencers
Collagen
Glucose 6 phosphatase

12. What are the purely ketogenic amino acids
More than 1 codon may code for the same amino acid
Leu - lys
Binds to LDL receptor - mediates VLDL secretion
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood

13. What tissue samples are used for karyotyping
N to C
17 - 17 letters in von Recklinghausen
Accelearted muscle breakdown
Blood - bone marrown - amniotic fluid - placental tissue

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

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15. characterize autosomal domint inheritance
Binds to LDL receptor - mediates VLDL secretion
Hyperlipidemia
Neurofibromatosis type 1 (von Recklinghausens disease)
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty

16. protein malnutrition resulting in skin lesions - edema and liver malfxn
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Nine
APKD1 on chromosome 16
Kwashiorkor - small child with swollen belly

17. What is a frame shift
NADPH
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects

18. What is the longest time of RNA and shortest
Conversion of NE to epi
Early in life - AR - inability to synthesize lipoproteins due to def in apoB100 and B48 - intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons - failure to thrive - steatorrhea - acanthocyt
MRNA - tRNA
G6PD

19. Delivers hepatic cholesterol to peripheral tissues - formed by LPL modification of VLDL in the peripheral tissue - taken up by target cells via RME
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Foliage - small reserve in liver - eat green leaves
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
LDL

20. Formed and degradation of VLDL - delivers TGs and cholesterol to liver where they are degraded to LDL
APRT + PRPP
Vit K antagonist
IDL
GAA

21. Describe the replication fork
Core proteins
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)

22. What shuttle is involved in fatty acid synthesis and What does it move From where to where
Glycogen phosphorylase
N to C
Citrate - acetyl coa from mito to cyto
Keep glutathione reduced so it can detoxify free radicals and peroxides

23. What is the Name and function of vit B1
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Myeloperoxidase

24. What makes up a nucleotide

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25. What does acetyl - CoA become before becoming palmitate
Pyruvate to oxaloacetate (3C to 4C)
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Liver and leafy veggies

26. What catacholamine step is SAM required for
Adds 2 carbon with the help of biotin
Conversion of NE to epi
After citruline
N to C

27. What is the Name and fxn of vit B12
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
X- linked recessive
Cytosol

28. In a 1000 meter run - Where does energy come from
Muscle
SAM
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users
Same as sprint + OXPHOS

29. What does the mutation in the gene cause in protein synthesis
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
B12 and folate
Abnormal protein folding - degradation before reaching cell surface
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision

30. What converts DOPA to dopamine
Dopa decarboxylase
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Rotenone - CN- - antimycin A - CO
Actin and myosin

31. How do permanent cells grow and regenerate and What are examples of permanent cells
Biotin
Result from phagocytic removal of heinz bodies my macs - G6PD def
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
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

32. Which direction does dynein go
Post to neg
Exercise: inc NAD/NADH - inc ADP - inc Ca
Alpha and beta tubulin - dimers have two GTP bound
Degredation of TG circulating in chylomicrons and VLDLs

33. What does a carboxylase do
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Lactate
Adds 2 carbon with the help of biotin
Citrate - acetyl coa from mito to cyto

34. What is the activated carrier for aldehyddes
TTP
Tropoelastin with fibrillin scafolding
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Glutamine PRPP amidotransferase

35. What is the treatment for orotic aciduria
Oral uridine administration
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Essential fructosuria - fructokinase AR
Actin and myosin

36. How is Lesch Neyhan inherited
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Hyperlipidemia
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
X- linked recessive

37. How do aminoglycosides work
Scrutinizes - hydrolyzes the bond
Lariat shape in order and remove intron precisely and join 2 exons
By inhibiting formation of the initiation complex and cause misreading of mRNA
Particular sequence of DNA where replicatino begins - may be single of multiple

38. What are the 4 assumption of the Hardy Weinberg law
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Wernicke - korsakoff - dry and wet beriberi
Hypoglycemia
Particular sequence of DNA where replicatino begins - may be single of multiple

39. What enzyme converts phenylalanine to tyrosin
Phenylalanine hydroxylase
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele

40. What is imprinting and give an example

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41. What can excess vit B3 cause
Exercise: inc NAD/NADH - inc ADP - inc Ca
Facial flushing
Bind 30s subunit preventing attachment of aminoacyl - tRNA
III - joint dislocation - anuerysms - organ rupture

42. delivers hepatic TGs to peripheral tissue - secreted by liver
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Glycolysis and aerobic respiration
O- oligosaccharaides
VLDL

43. If two alleles are present - but the active allele is deleted - what happens
Disease
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Night blindness - dry skin
Y shaped region along the DNA template where leading nad lagging strands are synthesized

44. What induces pyruvate kinase
Oxidative and nonoxidative - no ATP produced or used
F16BP
Alpha - ketoglutarate dehydrogenase complex
HMG- CoA reductase

45. What part of the pre mRNA contains the actual genetic information coding for protein
Antibiotic use or excessive ingestion of raw eggs
Wernicke - korsakoff - dry and wet beriberi
PFK - rate limiting enzyme
Exons

46. What bone disorder has x linked dominant inheritance
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Night blindness - dry skin
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination

47. What does DNA poly III do?

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48. What are the findings in PKU
CAG
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
GTP
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

49. What stretch of DNA that alters gene expression by binding of transcription factors
Enhancers
Ca/calmodulin in muscle to coordinate with muscle activity
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
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA

50. 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
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Inc dicarboxylic acids - dec in glucose and ketones
Males are infertile due to bilateral absence of vas deferens