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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 metabolic rxns occur in the cytoplasm
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Poly A polymerase - signal is AAUAA
Tryptophan
CTG

2. How do labile celss grow and regenerate and What are examples
Abnormal protein folding - degradation before reaching cell surface
Sulfation
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

3. What is the main source of folate
Foliage - small reserve in liver - eat green leaves
In ER - glucose 6- P to glucose
NADH - NADPH - FADH2
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA

4. Where is EtOH dehydrogenase located
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Glycine - aspartate - glutamine
Connective tissue
Cytosol

5. Which carbon bears the triphosphate and the energy source for bond formation

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6. What catacholamine step is SAM required for
More than 1 codon may code for the same amino acid
APRT + PRPP
Conversion of NE to epi
Inc CPK and muscle biopsy

7. central and peripheral demyelination with ataxia and dementia
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Unwinds DNA template at replcation fork
Epithelial cells
Proline and glycine (non glycosylated forms)

8. How does ouabain work
Polyneuritis - symmetrical muscle wasting
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
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Inhibits the Na/K pump by binding the K side

9. Where do you find elastin and What does it do
Avidin
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.

10. What is the defect in II A familial hypercholesterolemia
P+q = 1
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Alpha 1 -6 and alpha 1 -4
Tryptophan

11. What substances directly inhibit electron transport chain
IDL
Rotenone - CN- - antimycin A - CO
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Acetyl - CoA carboxylase (ACC)

12. What is mosaicism and give an example
Occurs when cells in the body have different genetic makeup - can be germline mosaic - which may produce a disease that is not carried by parents somatic cells - lyonization - random X inactivation in females
Degradation of TG stored in adipocytes
THFs
Inc Cl - in sweat

13. In which structures do you find microtubules
Flagella - cilia - mitotic spindles
Phosphofructokinase 1
African Americans and Asians
Inc dicarboxylic acids - dec in glucose and ketones

14. How is orotic aciduria inherited
OTC has hyperammonemia - orotic aciduira does not
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
AR
Mitochondria

15. metaphse chromosomes are stained - ordered and numbered according to morphology - size - arm length ratio - banding pattern
Karyotyping
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
40 - 60 - 80
5' of the incoming nucleotide

16. Type III collagen
3' end (with CCA)
Glycogen and FFA oxidation; glucose conserved for final sprinting
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Inhibits the Na/K pump by binding the K side

17. Leysh - Nyhan syndrome is a defect in which enzyme and What are the biochemical results
HGPRT - defective purine salvage - excess uric acid production
Fasting
Von gierkes - glucose 6 phosphatase
Malonyl coa

18. What are the two transgenic strategies in mice
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Dopa decarboxylase
Ile - phe - thr - trp
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

19. What is the RDE of gluconeogenesis
Fructose 1 -6 bisphosphate
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Dermatitis - glossitis - and diarrhea
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)

20. What is the RDE of ketogenesis
Methionine encode by only 1 codon (AUG)
HMG- CoA synthase
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Karyotyping

21. What metabolic rxns occur in the mitochondria
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
SnRNPs
Phosphofructokinase 1
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS

22. In what cell is collagen synthesis initiated
Protein kinase A
Fibroblast
Ribos first then deoxyribos with ribonucleotide reductase
Acetyl - CoA carboxylase (ACC)

23. What does primase do
B48 - AIV - CII - E
Makes RNA primer on which DNA poly III can initiate replication
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles

24. What two pathways is carbomoyl phosphate involved in - and what enzyme deficiency leads to a build of carbamoyl phosphate leading to what element in pyrimidine synthesis
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
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
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
Inhibits RNA polymerase II - found in death cap mushrooms

25. Which cells are rich in smooth ER
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
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
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Liver hepatocytes and steroid producing cells of the adrenal cortex

26. Which RNA poly opens DNA at promotor site
Oxidized hemoglobin precipiated within RBCs
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Failure to track objects or develop a social smile
RNA poly II

27. What collagen type is most frequently affected in ehlers danlos and What are common complications
Dermatitis - enteritis - alopecia - adrenal insuff
PCR - denaturation - annealing - elongation
III - joint dislocation - anuerysms - organ rupture
Ile - phe - thr - trp

28. What is the TX for CF and What does it do
Fructose 1 -6 bisphosphate
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
African Americans and Asians
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase

29. Infection with what organism can cause B12 def
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Inc vit B6
Diphyllobothrium latum
No - its non homologous

30. What two rxns in in glycolysis require ATP
Intermediate filaments
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Rotenone - CN- - antimycin A - CO

31. What is uniparental disomy
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
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Oral uridine administration
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells

32. What is the breakdown product of NE
VMA
ADPKD
Orotate precursor - with PRPP added later
Von Gierke's - Pompe - Cori - McArdle

33. characterize x linked dominant
17 - 17 letters in von Recklinghausen
Robertsonian translocation and mosaicism
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Transmitted through both parents - affected mother may have affected children - affected father will have affected children

34. In prokaryotes - What does makes the different types of RNA
HMG- CoA (HMG- CoA to mevalonate
Microarrays
Glucose - 2Pi - 2ADP - 2NAD+
1 kind with multiple subunits

35. What is the hardy weinberg allele prevalence
Tryptophan
P+q = 1
Four
Y shaped region along the DNA template where leading nad lagging strands are synthesized

36. What else can phosphoylate phosphorylase kinase
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Ca/calmodulin in muscle to coordinate with muscle activity
Nine

37. What is dominant negative mutation and give an example
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
Eu - methionine - pro - formyl - methionine
Attachment of ubiquitin to defective proteins tag them for breakdown
Not all individuals with a mutant genotype show the mutant phenotype

38. What does the deletion of the dystrophin gene lead to...
Active secretion in lungs and GI - reabsorbs in skin
Stored ATP - creatine phosphate - anaerobic glycolysis
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Accelearted muscle breakdown

39. What two proteins make up microtubules and how are they arranged
Alpha and beta tubulin - dimers have two GTP bound
Alpha 1 -4 glucosidase
Two
CGG

40. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Reads usual codon but inserts wrong AA
2 -4 DNP - aspirin
Marasmus - muscle wasting
Silencers

41. What is the treatment for dec affinity of cystathionine synthase for pyroxidal phosphate
Locus heterogeneity - ocular albinism is x- linked recessive
Liver and leafy veggies
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Inc vit B6

42. 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
CFTR gene - 7 - Phe 508
HMG- CoA (HMG- CoA to mevalonate
Scrutinizes - hydrolyzes the bond
Night blindness - dry skin

43. What does the golgi assemble proteoglycans from
X- linked recessive
Arginine
Core proteins
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first

44. Very Poor Carbohydrate Metabolism stands for 4 of the glycogen storage diseases - What are thy

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45. How do macrolides and clindamycin work
One
Keep glutathione reduced so it can detoxify free radicals and peroxides
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Binds 50S - blocking translocation

46. decreases In what substances can cause PKU
HVA
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
FMR1 gene - methylation - associated with chromosomal breakage
Fabrys - alpha galactosidase A - ceramide trihexoside - XR

47. What converts limit dextran to glucose
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
G6PD
Debranching enzyme
Dec methionine - inc cystiene - inc B12/folate

48. What happens in vit D def
African Americans and Asians
They yield only acetyl - CoA equivalents
Base + ribose
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)

49. What are the irreversible enzymes of gluconeogenesis
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
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Schwann cells - lens - retina - kidneys
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase

50. Describe robertsonian translocation
Familial hypercholesterolemia - hyperlipidemia type IIA
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
Tropoelastin with fibrillin scafolding
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22