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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 catacholamine step is SAM required for
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Glucose 6 phosphate dehydrogenase (G6PD)
Marasmus - muscle wasting
Conversion of NE to epi

2. What does the TCA cycle produce per 1 acetyl CoA
Base + ribose + phosphate (3' -5') phosphodiester bond
Foliage - small reserve in liver - eat green leaves
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
X linked frame shif mutation

3. trinucleotide repeat for huntingtons
VLDL
Glycine - aspartate - glutamine
Attachment of ubiquitin to defective proteins tag them for breakdown
CAG

4. What is RNAi used for
Failure to track objects or develop a social smile
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Mitochondria
DsRNA promotes degradation of target mRNA knocking down gene expression

5. What are the glucogenic essential amino acids
Anabolic processes as a supply of reducing equivalents
Met - val - arg his
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
5' of the incoming nucleotide

6. Which anticancer drugs work on microtubules
P2 +2pq+ = 1
Tryptophan
Malabsorption and steatorrhea (ADEK)
Vincritsine/vinblastine

7. Type I collagen
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
SnRNPs
Degredation of dietary TG in small intestine

8. What is the most common urea cycle disorder and What is the mode of inheritance?
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
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Vincritsine/vinblastine

9. What does the CFTR channel do in the lungs - GI tract and skin
Leu - lys
Active secretion in lungs and GI - reabsorbs in skin
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
Alpha1 antitrypsin

10. How do stable (quiescent) cells grow and regenerate and What are examples
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Lysine and leucine
Pseudomonas and s aureus

11. What ribosomes do eukaryotes have
NADPH
Diphyllobothrium latum
Acetyl - CoA
40 - 60 - 80

12. How do macrolides and clindamycin work
Acetyl - CoA carboxylase (ACC)
Flagella - cilia - mitotic spindles
Binds 50S - blocking translocation
Neg to pos

13. An inability to convert orotic acid to UMP would be caused by a deficiency either of which two enzymes

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14. What does inc phenylalanine lead to...
Supply sufficient glucose to brain and RBCs and to preserve protein
Avidin
Oligomycin
Phenylketones in urine

15. What causes maple syrup urine disease and What does it lead to...
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
PMNs
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
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

16. What are the findings in Down's syndrome
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Mental retardation - flat facies - prominent epicanthal folds - simian crease - gap between 1st 2 toes - duodenal atresia - congenital heart disease (ASD) - inc risk of All and Alzheimers
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Mediates extra remnant take up

17. NADPH are used In what 4 things
ATP
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
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

18. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
Ribos first then deoxyribos with ribonucleotide reductase
Attachment of ubiquitin to defective proteins tag them for breakdown
CAG - 4
Ile - phe - thr - trp

19. What is the result of vit B5 def
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Must be both activated and inactivated for cell cycle to progress

20. RNA poly can't proofread - but What can it do
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Hepatic glycogenolysis - adipose tissue release of FFA - muslce and liver FFA - hepatic gluconeogenesis from peripheral tissue lactate and alanine and from adipose tissue glycerol and proprionyl - coA (odd chain FFA)
Inhibits RNA polymerase II - found in death cap mushrooms
Initiate chains

21. What are Heinz bodies
Oxidized hemoglobin precipiated within RBCs
Arg - lys - his - arg is most basic - has has no charge at body pH
Anabolic processes as a supply of reducing equivalents
Flank pain - hematuria - HTN - progressive renal failure

22. What does a defective Cl channel do
Q -
Achondroplasia
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

23. 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
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Must be both activated and inactivated for cell cycle to progress
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

24. trinucleotide repeat fo myotonic dystrophy
CTG
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Cofactor for LPL
RRNA

25. What other inflammatory process can induce a hemolytic anemia in NADPH defieicnt patients
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Infection - free radicals generated by inflammatory response
Neuralgia
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints

26. What converts limit dextran to glucose
GAA
Ile - phe - thr - trp
Debranching enzyme
Males are infertile due to bilateral absence of vas deferens

27. What does Alports syndrome cause and why
Fed
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Glucose 6 phosphatase
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive

28. Gene imprinting implies that How many alleles are active at a single locus
Peroxide
One
Inc melt - dec fluidity
Grows slowly - collapses quickly

29. Do balanced translocations cause abnl phenotype
No
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
HGPRT - defective purine salvage - excess uric acid production
AR

30. What happens in termination of proteins synthesis
Sucrose = glucose + fructose - lactose = glucose + galactose
Oxalacetate
Stop codon is recognized by release factor - and completed protein is released from ribosome
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations

31. What converts DOPA to dopamine
Facial flushing
Dopa decarboxylase
Glycine - aspartate - glutamine
Inc CPK and muscle biopsy

32. Which aspect of the spliceosome do patients with lupus make antibodies against
30 - glycerol -3- phosphate shuttle
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
SnRNPs
Elastase - inhibited by alpha1 antitrypsin

33. What are the glucogenic/ketogenic amino acids
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Ile - phe - thr - trp
AR
Dermatitis - alopecia - enteritis

34. what disease can cause pellagra
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Fructose 1 -6 bisphosphate
HMG- CoA synthase
SNP

35. What kind of branches do glycogen branches have
B6
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Alpha 1 -6 and alpha 1 -4
Inc dicarboxylic acids - dec in glucose and ketones

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

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37. What does NADPH oxidase deficiency result in and why
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
MEN - 2A and 2B with ret gene
Wobble

38. what happens in acyl coa dehyrdogenase def
Inc dicarboxylic acids - dec in glucose and ketones
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Alpha 1 -4 glucosidase
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1

39. What does a kinase do
Zero
Uses ATP to add high energy phophate group onto substrate
Abnormal protein folding - degradation before reaching cell surface
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

40. What tissues have only aldose reductase
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Mitochondria
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Schwann cells - lens - retina - kidneys

41. What apolipoproteins are on chylomicrons
B48 - AIV - CII - E
HMP shunt
2pq
Acetoacetate and beta hydroxybutyrate

42. Patients with chronic granulomatous disease are at increased risk of infection From which kind of organisms
Anabolic processes as a supply of reducing equivalents
SnRNPs and other proteins
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

43. What happens in elongation of protein synthesis

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44. How are the many staggered tropocollagen molecules reinforced
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Only processed RNA
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Neurofibromatosis type 1 (von Recklinghausens disease)

45. What is the Name and function of vit B1
One
Nissl body - enzyme and NTs
TRNA
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase

46. What does DNA poly III do?

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47. What is the RDE of de novo pyrimidine synthesis
GAA
Williams syndrome
Carbomoyl phosphate synthetase II
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR

48. What is uniparental disomy
Consesus sequenec of base pairs
Euchromatin
Type II
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

49. What is a silent mutation
PFK - rate limiting enzyme
Hypoxanthine to xanthing and xanthine to uric acid
Same AA - often base change in 3rd position of codon (tRNA wobble)
Mutated dystrophin gene - less severe - adolescence

50. What produces NADPH
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
HMP shunt
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Core proteins