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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 part of the pre mRNA contains the actual genetic information coding for protein
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Exons
Binds 50S - blocking translocation

2. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
Same AA - often base change in 3rd position of codon (tRNA wobble)
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
X linked frame shif mutation
Fructose 1 -6 bisphosphate

3. What CETP do
AMP - fructose 2 -6 BP
Glucose - 2Pi - 2ADP - 2NAD+
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Cleft palate - cardiac abnl - pregs test

4. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
30 - glycerol -3- phosphate shuttle
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination

5. What is the most abundant protein in the body
Collagen
Superoxide dismutase
RRNA
Lariat shape in order and remove intron precisely and join 2 exons

6. How do aminoglycosides work
Procollagen - triple helix of 3 alpha collagen chains
By inhibiting formation of the initiation complex and cause misreading of mRNA
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Dermatitis - enteritis - alopecia - adrenal insuff

7. What happens in elongation of protein synthesis

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8. What is proteasomal degredation
Attachment of ubiquitin to defective proteins tag them for breakdown
O- oligosaccharaides
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
NF2 on chromosome 22

9. How does patients present with ADPKD
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Conversion of NE to epi
Flank pain - hematuria - HTN - progressive renal failure
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)

10. What does a northern blot use as its sample
RNA
Phosphofructokinase 1
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
Carnitine shuttle - acyl - coa from cyto to mito

11. What is the RDE of glycogen synthesis
Glycogen synthase
9+2 arrangement of microtubules
Orotic acid to UMP
PMNs

12. In which direction is protein synthesized
Leu - lys
N to C
PMNs
HMG- CoA synthase

13. What is heteroplasmy
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
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

14. What causes biotin def
Tyrosine
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Antibiotic use or excessive ingestion of raw eggs

15. What does degenerate/rundant genetic code refer to...
Malonyl coa
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
More than 1 codon may code for the same amino acid
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)

16. What is the amino acid precursor for porphyrin and heme
Orotate precursor - with PRPP added later
Proline and glycine (non glycosylated forms)
Glycine
Antibiotic use or excessive ingestion of raw eggs

17. What are the glucogenic/ketogenic amino acids
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Ile - phe - thr - trp
Phenylethamolamine N methyl transferase
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood

18. What happens in vit D def
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
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Phosphorylation - glycosylation - hydroxylation
Each codon specifies only 1 amino acid

19. What are the products for glycolysis
Glycine
Isocitrate dehydrogenase
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase

20. What does a pyruvate dehydrogenase deficiency lead to and What are the findings
Leu - lys
GTP
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
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects

21. What is a silent mutation
Ketone - methyl
Same AA - often base change in 3rd position of codon (tRNA wobble)
Glucose 6 phosphate dehydrogenase (G6PD)
Palate - facial and cardiac defects

22. bilateral acoustic schwannomas - juvenile cataracts
Locus heterogeneity - ocular albinism is x- linked recessive
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
NF2 on chromosome 22
Each codon specifies only 1 amino acid

23. progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly
VLDL
Palate - facial and cardiac defects
AMP - fructose 2 -6 BP
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR

24. What are the results of pancreatic insuff in CF
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
HMG- CoA reductase
Malabsorption and steatorrhea (ADEK)
LDL

25. What does the ELISA test for
SnRNPs
Fibrofatty replacement of muscle - cardiac myopathy
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

26. What does the golgi do to sugars in proteoglycans and of selected tyrosine on proteins
HMG- CoA (HMG- CoA to mevalonate
Sulfation
Essential fructosuria - fructokinase AR
3' end (with CCA)

27. What apolipoprotiens are on VLDL
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
B-100 - CII and E
Fibroblast
Degredation of TG circulating in chylomicrons and VLDLs

28. How does warfarin work
Malapsorption syndromes like sprue or CF or mineral oil intake
Vit K antagonist
Adenosine to inosine
Read from a fixed starting point as a continuous sequence of bases

29. What activates the pyruvate dehydrogenase complex
Adds an inorganic phosphate onto substrate without using ATP
Mutated dystrophin gene - less severe - adolescence
25OHD3
Exercise: inc NAD/NADH - inc ADP - inc Ca

30. What enzyme does fructose metabolism bypass to reach glycolysis
Stop codon is recognized by release factor - and completed protein is released from ribosome
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Glucose -6 phosphate
PFK - rate limiting enzyme

31. What does hartnups disease cause
Facial flushing
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Inhibits the Na/K pump by binding the K side

32. 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
Pyruvate to oxaloacetate (3C to 4C)
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Heterochromatin = HighlyCondensed

33. What is a frame shift
L form
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Inc dicarboxylic acids - dec in glucose and ketones
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation

34. How do permanent cells grow and regenerate and What are examples of permanent cells
Hyperlipidemia
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Asp and Glu
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision

35. What are the 4 assumption of the Hardy Weinberg law
Cri du chat
Chylomicrons
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
III - joint dislocation - anuerysms - organ rupture

36. What is the TX for PKU
TRNA
Glycine
Males are infertile due to bilateral absence of vas deferens
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet

37. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
Dec DNA - dec lymphos leads to SCID
Silencers
Oligomycin
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation

38. What metabolic rxns occur in both the cytoplasm and mitochondria
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Metanephrine
Inc glucagon - inc cAMP - inc PKA
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two

39. what findings are associated with marfans
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Changed AA (convservative - new AA is similar in chemical structure)
Stop codon is recognized by release factor - and completed protein is released from ribosome
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA

40. metaphse chromosomes are stained - ordered and numbered according to morphology - size - arm length ratio - banding pattern
The triphosphate bond
Karyotyping
After citruline
Antibiotic use or excessive ingestion of raw eggs

41. What is imprinting and give an example

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42. what gene is implicated in fragile X syndrome - and What is the mutation
FMR1 gene - methylation - associated with chromosomal breakage
Acetly- CoA - CO2 - NADH
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Q -

43. What makes up a nucleoside
Alanine
Von hippel lindau - 3
Base + ribose
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive

44. How many rings do pyrimidines have
1 ring
Degradation of TG stored in adipocytes
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
1 -25 OH2 D3 = calcitriol

45. pyruvate carboxylase catalyzes what rxn
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
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
Pyruvate to oxaloacetate (3C to 4C)
Hyperlipidemia

46. What is the hardy weinberg allele prevalence
P+q = 1
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Oxidative is irreversible

47. What is the most abundant type of RNA
PFK - rate limiting enzyme
Glucose 6 phosphate dehydrogenase (G6PD)
RRNA
Carnitine acyltransferase I

48. antbiotic controlled promoter to induciblly manipulate genes at specific developmental points
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Griseofulvin
Cre - lox system
Must be both activated and inactivated for cell cycle to progress

49. A small proportion of Down syndrome is due to What two genetic events
Robertsonian translocation and mosaicism
Inhibits 50S peptidyltransferase
Glycogen synthase
Cartilage - hyaline - vitreous body - nucleus pulposus

50. Which end of the tRNA is the amino acid bound to...

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