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Biochemistry

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1. What does cytokeratin stain for
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
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Epithelial cells

2. What are the findings in orotic aciduria
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

3. What is dominant negative mutation and give an example
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Exerts a dominant effect - a heterozygote produces a nonfxnal altered protein that also prevents the normal gene from functioning - mutation of Tx factor its allosteric site - nonfxning mutant can still bind DNA - preventing wild type Tx from binding
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine

4. What does a northern blot use as its sample
RNA
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Schwann cells - lens - retina - kidneys

5. What collagen type is most frequently affected in ehlers danlos and What are common complications
CarTWOlage
Schwann cells - lens - retina - kidneys
III - joint dislocation - anuerysms - organ rupture
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR

6. What does desmin stain for
Niacin - constituent of NAD and NADP - derived from tryptophan
Deamination
Muscle
Lactate

7. In a 1000 meter run - Where does energy come from
1 kind with multiple subunits
Same as sprint + OXPHOS
Tuberous sclerosis
Liver hepatocytes and steroid producing cells of the adrenal cortex

8. Pts with albinism are at inc risk For what cancer
II - VII - IX - X (1972) protein C and S
Skin
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Inc intestinal absorption fo calcium and phosphate - inc bone resorption

9. What does the golgi add to serine and threonine residues
CAG
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
O- oligosaccharaides
Exons

10. bilateral acoustic schwannomas - juvenile cataracts
25OHD3
NF2 on chromosome 22
Dopa decarboxylase
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA

11. Severe fasting hypoglycemia - inc glycogen storage in liver - inc blood lactate - hepatomegaly - dz and def enzyme
Tryosine hydroxylase
Actin and myosin
Von gierkes - glucose 6 phosphatase
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns

12. What does the vimentin stain for
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
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
Binds to LDL receptor - mediates VLDL secretion
Connective tissue

13. What does a carboxylase do
Adds 2 carbon with the help of biotin
Alpha 1 -4 glucosidase
RRNA
The triphosphate bond

14. In which direction is protein synthesized
3' end (with CCA)
N to C
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Not all individuals with a mutant genotype show the mutant phenotype

15. Which amino acids are elastin rich in
Proline and glycine (non glycosylated forms)
Same as sprint + OXPHOS
CAG - 4
B12 and folate

16. What causes Hartnup's disease
1 ring
Zero
Kidney - ears - eyes
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells

17. What does high cholesterol or long saturated fatty acid content do to the melting temperature and fluidity
Williams syndrome
Inc melt - dec fluidity
Fibrofatty replacement of muscle - cardiac myopathy
Von hippel lindau - 3

18. What is the defect in I- hyperchylomicronemia
Each codon specifies only 1 amino acid
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints

19. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
CG- 3 > AT-2 - More CG content - melting point goes up
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Von gierkes - glucose 6 phosphatase
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast

20. What defects characterize DiGeorge syndrome
Thymic - parathyroid and cardiac
Sucrose = glucose + fructose - lactose = glucose + galactose
Removal of N or C termal propeptides from zymogens to generate mature proteins
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive

21. What is the RDE of cholesterol synthesis
Mediates chylomicron secretion
Post to neg
HMG- CoA reductase
Fructose 1 -6 bisphosphate

22. Type I collagen
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Autosomal recessive diseases
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
IDL

23. What is the hardy weinber heterozygote prevalence
Fructose 1 -6 bisphosphate
2pq
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Regulatory proteins that control cell cycle events; phase specific; activate CDKs

24. What are the function of vit C
Glucose -6 phosphate
Disease
Terminal regions - tropocollagen
Antioxidant - facilitates iron absorption by keeping iron in the Fe2+ reduced state - necessary for hydroxylation of proline and lysine collagen bridges - necessary for dopamine beta hydroxylase which converts DA to NE

25. What is the RDE of ketogenesis
PMNs
IDL
Muscle
HMG- CoA synthase

26. Which phase of the HMP shunt is reversible and Which is irreversible
Oxidative is irreversible
Conversion of NE to epi
Inc Cl - in sweat
SnRNPs

27. What is maternal PKU
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Inc glucagon - inc cAMP - inc PKA
Targets the proteins for lysosome
Exercise: inc NAD/NADH - inc ADP - inc Ca

28. What happens in vit K def
CTG
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Nonsense > missense > silent
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

29. In eukaryotes - What does RNA poly II make
Rotenone - CN- - antimycin A - CO
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
MRNA
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

30. What does amino acid catabolsim results in the formation of what?
Autosomal recessive diseases
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
HVA
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

31. What happens in termination of proteins synthesis
Polycystic liver disease - berry aneurysm - mitral valve prolapse
TTP
Stop codon is recognized by release factor - and completed protein is released from ribosome
ATP and alanine

32. What is NAD+ generally used for
Disease
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Catabolic processes to carry reducing equivalents away as NADH
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns

33. What do def in in enzymes of gluconeogenesis cause
Accelearted muscle breakdown
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Hypoglycemia
Grows slowly - collapses quickly

34. What chromosome is the NF gene on...
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
17 - 17 letters in von Recklinghausen
EtOH dehydrogenase and acetaldehyde dehydrogenase

35. What does DNA poly III do?

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36. What is the RDE of the HMP shunt
SnRNPs and other proteins
EtOH dehydrogenase and acetaldehyde dehydrogenase
Glucose 6 phosphate dehydrogenase (G6PD)
PFK - rate limiting enzyme

37. What is sorbitol - how and why is it made
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
CarTWOlage
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Alcohol version of glucose - can trap glucose in cell - aldose reductase

38. How do microtubules grow and collapse
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Grows slowly - collapses quickly
Von hippel lindau - 3

39. What do the single stranded binding proteins do
Binds to LDL receptor - mediates VLDL secretion
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Evident in first few days of life - can present last onest - excess carbamoyl phosphate converted to orotic acid - orotic acid in blood and urine - dec BUN and symptoms of hyerpammonemia
Prevent strands from reannealing

40. What is heteroplasmy
Q -
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Lysine and leucine

41. How many ATP are created by aerobic metabolism of glucose in the heart and liver via what shuttle
Read from a fixed starting point as a continuous sequence of bases
1 ring
Kwashiorkor - small child with swollen belly
32 - malate aspartate shuttle

42. Broadly - What can cause fat - soluble vitamin deficiencies
Malapsorption syndromes like sprue or CF or mineral oil intake
Glycogenolysis to form glucose
Connective tissue
Colchicine

43. What is a missense mutation
Changed AA (convservative - new AA is similar in chemical structure)
Dermatitis - alopecia - enteritis
Fibrofatty replacement of muscle - cardiac myopathy
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light

44. What does a dehydrogenase do
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
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
Oxidizes substrate
ADPKD

45. What is uniparental disomy
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
MRNA - tRNA
Cytosol - F 1 -6 BP to fructose 6 Phosphate
CAG - 4

46. Which enzyme involved in RNA synthesis does not require a template
TTP
Huntingtons
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Poly A polymerase - signal is AAUAA

47. How is ATP used by the cell
Result from phagocytic removal of heinz bodies my macs - G6PD def
Inhibits the Na/K pump by binding the K side
Debranching enzyme
ATP hyrdolysis couple to energetically unfavorable rxns

48. Where is fructose 1 -6 bisphosphatase found and What does it do
Glycogenolysis to form glucose
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Semiconservative - continuous and discontinuous strands (okazaki fragments)
DsRNA promotes degradation of target mRNA knocking down gene expression

49. caf
Neurofibromatosis type 1 (von Recklinghausens disease)
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Glycine - aspartate - glutamine
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

50. What is the physiologic role of dystrophin
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Vit K antagonist
Phenylalanine
Anchor muscle fibers - primarily in skeletal and cardiac muscle

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Biochemistry

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