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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. How many rings do purines have
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
2 rings
Failure to track objects or develop a social smile
PFK - rate limiting enzyme

2. If two alleles are present - but the active allele is deleted - what happens
Familial hypercholesterolemia - hyperlipidemia type IIA
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Skin
Disease

3. Type IV collagen
Basement membrane or basal lamina
Myeloperoxidase
Chylomicrons
Oxidized hemoglobin precipiated within RBCs

4. What catacholamine step is SAM required for
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
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Conversion of NE to epi
Ribos first then deoxyribos with ribonucleotide reductase

5. What are bite cells and when do you see them
Result from phagocytic removal of heinz bodies my macs - G6PD def
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Tryosine hydroxylase
Ile - phe - thr - trp

6. What is the hardy weinberg allele prevalence
40 - 60 - 80
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
P+q = 1
Terminal regions - tropocollagen

7. What substance inside the cells replenishes NADPH
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Protective against malaria
G6PD
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels

8. What are cyclin - CDK complexes
Must be both activated and inactivated for cell cycle to progress
Exercise: inc NAD/NADH - inc ADP - inc Ca
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Orotate precursor - with PRPP added later

9. What does DNA poly III do?

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10. What happens in vit D excess
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
ATP
Oxidative and nonoxidative - no ATP produced or used

11. What tissue samples are used for karyotyping
Arg - lys - his - arg is most basic - has has no charge at body pH
Must be both activated and inactivated for cell cycle to progress
Blood - bone marrown - amniotic fluid - placental tissue
Hypoxanthine to xanthing and xanthine to uric acid

12. How does patients present with ADPKD
Degredation of TG circulating in chylomicrons and VLDLs
Flank pain - hematuria - HTN - progressive renal failure
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Bruton's agammaglobulinemia - wiskott - aldrich - fabrys disease - G6PD def - ocular albinism - Lesch - Nyhan syndrome - Duchenne and Becker Muscular Dystrophy - hunter's syndrome - hemophilia A and B

13. What are the characteristics of prader willi syndrome How does it occur
Achondroplasia
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Glycogenolysis to form glucose
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15

14. What are the reactants for glycolysis
Dermatitis - alopecia - enteritis
Glucose - 2Pi - 2ADP - 2NAD+
CAG - 4
Glycine

15. What does a carboxylase do
CG- 3 > AT-2 - More CG content - melting point goes up
Adds 2 carbon with the help of biotin
EtOH dehydrogenase and acetaldehyde dehydrogenase
Alanine

16. In the chromatin structure - which histones form the octamer - and which ties the nucleosome beads together in a string?
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Marasmus - muscle wasting

17. How do macrolides and clindamycin work
Binds 50S - blocking translocation
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Histidine
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase

18. What are the symptoms of vit A excess
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
The triphosphate bond
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Chronic granulomatous disease - no respiatory burst - no formatino of ROS

19. Eukaryotic and prokaryotic DNA synthesis is blank and involves both blank and blank strands
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Nine
Poly A polymerase - signal is AAUAA
Oxalacetate

20. What is variable expression and What is an example
Debranching enzyme
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Tryptophan

21. What converts limit dextran to glucose
Nine
Debranching enzyme
Particular sequence of DNA where replicatino begins - may be single of multiple
Tryosine hydroxylase

22. delivers hepatic TGs to peripheral tissue - secreted by liver
CGG
Methionine encode by only 1 codon (AUG)
PCR - denaturation - annealing - elongation
VLDL

23. What is the result of vit B5 def
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
OTC has hyperammonemia - orotic aciduira does not
Reads usual codon but inserts wrong AA

24. Infection with what organism can cause B12 def
Isocitrate dehydrogenase
Diphyllobothrium latum
Pyruvate to oxaloacetate (3C to 4C)
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss

25. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
Must be both activated and inactivated for cell cycle to progress
1 kind with multiple subunits
ATP and methionine
30 - glycerol -3- phosphate shuttle

26. What causes patau's syndrome and What is it
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Exons
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
NF2 on chromosome 22

27. What is the amino acid precuror for creatine - urea and nitric oxide
Arginine
F16BP
APC on chromosome 5
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue

28. What does vit B3 def result in
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
OTC has hyperammonemia - orotic aciduira does not
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
SnRNPs

29. decreases In what substances can cause PKU
2 rings
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Marfans
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two

30. What are uncoupling agents
Connective tissue
2pq
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
Nine

31. What 3 steps in RNA processing occur after transcription

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32. Which antihelminthe drugs work on microtubules
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Mebendazole/thiabendazole
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)

33. What does high cholesterol or long saturated fatty acid content do to the melting temperature and fluidity
Inc melt - dec fluidity
DTMP
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis

34. The golgi apparatus fxns as a distribution center between what organelles in the cell and What does it process
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Bruton's agammaglobulinemia - wiskott - aldrich - fabrys disease - G6PD def - ocular albinism - Lesch - Nyhan syndrome - Duchenne and Becker Muscular Dystrophy - hunter's syndrome - hemophilia A and B
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

35. What is the defect in fructose intolerance and What does it cause
Alanine
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
PFK - rate limiting enzyme
Citrate - acetyl coa from mito to cyto

36. What is NADPH's role inside RBCs
Flank pain - hematuria - HTN - progressive renal failure
Cyclin dependent kinases;constitutive and inactive
Muscle
Keep glutathione reduced so it can detoxify free radicals and peroxides

37. What is used to diagnose muscular dystrophies
Dermatitis - enteritis - alopecia - adrenal insuff
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Inc CPK and muscle biopsy
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

38. How is orotic aciduria inherited
AR
ATP and alanine
Cytosol
Carbomoyl phosphate synthetase II

39. What does aminoacyl tRNA synthetase do the AA before and after it binds to tRNA - and what happens if it's the wrong the match
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
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
Scrutinizes - hydrolyzes the bond
EtOH dehydrogenase and acetaldehyde dehydrogenase

40. 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
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Passed to glutamate - then to alanine enters blood - enters liver - coverted to pyruvate and transfers ammonium back to glutamate which gives it to the urea cycle

41. In a 1000 meter run - Where does energy come from
Same as sprint + OXPHOS
CGG
Base + ribose + phosphate (3' -5') phosphodiester bond
Result from phagocytic removal of heinz bodies my macs - G6PD def

42. Why can't even chain fatty acids produce new glucose
ATP and alanine
They yield only acetyl - CoA equivalents
Orotate precursor - with PRPP added later
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1

43. Which step in the de novo purine and pyrimidine synthesis pathway requires just aspartate
RRNA
Orotic acid to UMP
Ribose 5- P to PRPP
B100 and E

44. What does an umabiguous genetic code refer to...
SnRNPs
Each codon specifies only 1 amino acid
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
OTC has hyperammonemia - orotic aciduira does not

45. What are the function of vit C
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
Carnitine acyltransferase I
Avidin
Consesus sequenec of base pairs

46. What causes B12 def
Change resulting in early stop codon
Alpha 1 -6 and alpha 1 -4
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Pseudomonas and s aureus

47. What is the composition of urea and where do each part derive from
APC on chromosome 5
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Alpha1 antitrypsin
Degredation of TG circulating in chylomicrons and VLDLs

48. What amino acid makes up most of the octamer
Carbomoyl phosphate synthetase II
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Lysine and arginine
Antigen - antibody reactivity - can look for antigen or antibody in patients blood

49. spheroid RBCs due to spectrin or ankyrin defect - hemolytic anemia - inc MHCH - splenectomy is curative
HVA
Acetly- CoA - CO2 - NADH
PFK - rate limiting enzyme
Hereditary spherocytosis

50. Wgat substances directly inhibit mitochondrial ATPase - causing an inc in proton gradient - no ATP because pump is stopped
HDL
Oligomycin
Changed AA (convservative - new AA is similar in chemical structure)
Same AA - often base change in 3rd position of codon (tRNA wobble)