Biochemistry: How To Use The Workbook With The Videos

page 1
Biochemistry
How to Use the Workbook with the Videos
Using this table as a guide, read the Facts in First Aid for the USMLE Step 1 2014,
watch the corresponding First Aid Express 2014 videos, and then answer the workbook
questions.
Facts in First Aid for Corresponding First Aid Workbook

the USMLE Step 1 2014 Express 2014 videos questions
66.1–75.4 Molecular (4 videos) 1–24
76.1–81.3 Cellular (3 videos) 25–45
81.4–83.4 Laboratory Techniques (2 videos) 46–52
84.1–91.4 Genetics (5 videos) 53–72
91.5–97.2 Nutrition (2 videos) 73–74
98.1–118.3 Metabolism (16 videos) 75–91
Copyright © 2014 by MedIQ Learning, LLC All rights reserved v1.0

page 2 First Aid Express 2014 workbook: BIOCHEMISTRY
Questions
MOLECULAR
1. Which histone is not part of the nucleosome core? (p. 66) ________________________________
2. What is DNA called when it is condensed and transcriptionally inactive? (p. 66) _______________
3. What is the name for transcriptionally active DNA? (p. 66)_________________________________
4. What physical property is displayed by nucleic acids that have increasing proportions of guanine-
cytosine bonds? (p. 66) ___________________________________________________________
5. Which enzyme is inhibited by hydroxyurea? (p. 67) ______________________________________
6. 5-Fluorouracil inhibits _______________, whereas both methotrexate and trimethoprim inhibit

_______________. (p. 67)
7. A child has megaloblastic anemia not responsive to vitamin B12 or folate administration. She is
small for her age. Serum studies show increased orotic acid and hyperammonemia. What is the
most likely diagnosis? (pp. 67, 109) __________________________________________________
8. A 12-year-old boy with moderate mental retardation visits his physician because of painful swollen
joints. During the examination, the boy makes several uncontrolled spastic muscle movements. His
medical history includes muscular hypotonia diagnosed when he was 5 months old. When he was
3 years old he was referred to a pediatric dentist for severe repetitive biting of his lip and tongue.
What is the most likely diagnosis? (p. 68) _____________________________________________
9. What enzyme “proofreads” DNA synthesis with its exonuclease activity in prokaryotic DNA replica-
tion? In which direction can it remove nucleotides? (p. 69) ________________________________
10. What enzyme degrades the RNA primer and replaces it with DNA during prokaryotic DNA
replication? (p. 69) _______________________________________________________________
11. Which category of drugs inhibits DNA gyrase? (p. 69) ____________________________________
12. Silent mutations often result from changes in which position of a codon? (p. 70) _______________
13. What kind of mutation denotes a DNA change that results in the misreading of all nucleotides
downstream from it? (p. 70) ________________________________________________________
14. What specific DNA repair mechanism is defective in xeroderma pigmentosum? (p. 71) __________
______________________________________________________________________________
15. In single-stranded DNA repair, how are nucleotide-excision and base-excision repair different? (p.
71) _________________________________________________________________________
16. Hereditary nonpolyposis colorectal cancer results from the loss of which DNA repair mechanism?
(p. 71) _________________________________________________________________________

page 3
17. What commonly results from a mutation within a promoter? (p. 72) _________________________
18. What type of RNA is the largest? The smallest? The most numerous? (p. 73) ________________
______________________________________________________________________________
19. What poisonous protein that inhibits RNA polymerase II is found in death cap mushrooms? (p. 73)
______________________________________________________________________________
20. In eukaryotes, what enzyme makes mRNA? (p. 73) _____________________________________
21. In eukaryotes, what enzyme makes tRNA? (p. 73) ______________________________________
22. Patients with which disease make antibodies to spliceosomal small nuclear ribonucleoproteins?
(p. 73)_________________________________________________________________________
23. β-Thalassemia can be caused by a mutation causing splicing defects in a process that combines
different exons within a single gene. What mechanism allows the same gene to encode for various
different proteins? (p. 74) __________________________________________________________
24. Explain the three steps of protein elongation. (p. 75) _____________________________________
______________________________________________________________________________
______________________________________________________________________________
CELLULAR
25. Fill in the boxes on the following diagram, noting the phases of the mitotic cell cycle. (p. 76)
26. Which transition in the cell cycle is prevented by Rb and p53 tumor suppressors? (p. 76) ________
______________________________________________________________________________
27. Match the cell type with its description. (p. 76)
_____ A. Cells remain in G0 and regenerate from stem cells 1. Labile cells
_____ B. Enter G1 from G0 when stimulated 2. Permanent cells
_____ C. Never go to G0 and divide rapidly with a short G1 3. Stable (quiescent) cells

28. Name two cells that are rich in rough endoplasmic reticulum. (p. 76) ________________________
29. Name two cells that are rich in smooth endoplasmic reticulum. (p. 76) _______________________
30. A child presents with coarse facial features, clouded corneas, restricted joint movement, and high
plasma levels of lysosomal enzymes. What is the most likely diagnosis? (p. 77) _______________
31. Which molecular motor protein is used for anterograde transport along microtubules? (p. 78) _____
32. Which antifungal agent targets microtubules? (p. 78) ____________________________________
33. Which antihelminthic drugs target microtubules? (p. 78) __________________________________
34. A 22-year-old woman presents with a history of recurrent pneumonia. X-ray of the chest shows
dextrocardia. What is the most likely diagnosis? (p. 78) __________________________________
35. Cilia, flagella, mitotic spindles, neurons, and centrioles are composed of which cytoskeletal
element? (p. 78) _________________________________________________________________
36. Vimentin, desmin, cytokeratin, glial fibrillary acid proteins, and neurofilaments are examples of
which type of cytoskeletal element? (p. 78) ____________________________________________
+ +
37. What effect does digoxin’s inhibition of Na -K ATPase have on cardiac contractility? (p. 79) _____
______________________________________________________________________________
38. What type of collagen is found in each structure? (p. 79)

_____ A. Basement membrane or basal lamina 1. Type I collagen
_____ B. Bone, skin, tendon, dentin, fascia, cornea, 2. Type II collagen
late wound repair 3. Type III collagen
_____ C. Cartilage, vitreous body, nucleus pulposus 4. Type IV collagen
_____ D. Skin, blood vessels, uterus, fetal tissue, granulation
tissue
39. British sailors in the 17th century were often unable to hydroxylate proline and lysine residues for
collagen synthesis. What disease did they have, and why did the treatment work? (p. 80)
______________________________________________________________________________
40. What disease leads to an inability to form procollagen from pro α chains? (p. 80) _____________
41. A patient presents with hyperextensible skin, easy bruising, and hypermobile joints. What is the
most likely diagnosis? (p. 81) _______________________________________________________
42. A baby is born with multiple fractures and hearing loss. What finding would most likely be seen
during the ophthalmologic examination? (p. 80) ________________________________________
43. Which enzyme involved in collagen synthesis will have decreased activity in a patient who has a
mutation that impairs copper absorption and transport? (p. 81) _____________________________
44. Marfan syndrome is caused by a defect in what protein? (p. 81) ____________________________
45. Which lung disorder can result from excess elastase activity? (p. 81) ________________________

page 5
LABORATORY TECHNIQUES
46. Why can’t human DNA polymerase be used for PCR? (p. 81) ______________________________
47. Which would travel farther on an agarose gel, a fragment of 10 kD or of 100 kD, and why? (p. 81)
______________________________________________________________________________
48. Describe each of the following blot techniques: Southern, Northern, and Western. (p. 82)
Southern blot: ___________________________________________________________________
______________________________________________________________________________
Northern blot: __________________________________________________________________
______________________________________________________________________________
Western blot: ___________________________________________________________________
______________________________________________________________________________
49. Which assay can measure the expression level of many genes simultaneously? (p. 82) _________
_______________________________________________________________________________
50. What information can be obtained from an ELISA using a test antibody? Is this a direct or indirect
ELISA? (p. 82) __________________________________________________________________
_______________________________________________________________________________
51. What is the advantage of fluorescence in situ hybridization over karyotyping? (p. 83) ___________
______________________________________________________________________________
52. What is the most direct lab technique for detecting autosomal trisomies? (p. 83) _______________
______________________________________________________________________________
GENETICS
53. Explain loss of heterozygosity. (p. 84) ________________________________________________
______________________________________________________________________________
54. A genetic disease that shows _______________________________ may have mutations at one of
several different loci that produce the same phenotype. (p. 84)
55. In terms of p and q, what is the heterozygote prevalence in a population that is in Hardy-Weinberg
equilibrium? (p. 85) _______________________________________________________________
56. How is Prader-Willi syndrome inherited? What are the symptoms? (p. 85) ____________________
______________________________________________________________________________
57. How is Angelman syndrome inherited? What are the symptoms? (p. 85) ____________________
______________________________________________________________________________

58. Which mode of inheritance is represented by each of the following pedigrees? (p. 86)
_____ A. _____ B. _____ C.
_____ D. _____ E.
1. Autosomal dominant
2. Autosomal recessive
3. Mitochondrial inheritance
4. X-linked dominant
5. X-linked recessive
59. What percentage of sons of a carrier mother is expected to inherit an X-linked recessive disease?
(p. 86) _________________________________________________________________________
60. True or False: A mother with an X-linked dominant disease may pass the disease to her sons but
not to her daughters. (p. 86) ________________________________________________________
61. Adult polycystic kidney disease is inherited in an autosomal- _______________ (dominant/

recessive) pattern, whereas infantile polycystic kidney disease is associated with an autosomal-
_______________ (dominant/recessive) pattern. (p. 87)
62. A patient has multiple telangiectasias and skin discolorations, and notes recurrent epistaxis. What
vascular pathology would you expect to find? (p. 87) ___________________________________
63. What is an effective “cure” for hereditary spherocytosis? (p. 87) ____________________________
64. A tall man comes to the emergency room with the combination of a dissecting ascending aorta and
acute mitral valve prolapsed. What disorder best explains these findings? (p. 87) ______________
65. You notice café-au-lait spots and cutaneous neurofibromas all over a patient’s skin. On which
chromosome is the gene that causes this disorder? (p. 87) _______________________________
66. Cystic fibrosis results from a defect in which gene? Which chromosome? Which ion channel?
(p.88) _________________________________________________________________________
67. Which drug can be used to loosen mucus plugs in patients with cystic fibrosis? (p. 88) __________
68. A patient with cystic fibrosis has an increased risk a deficiency of which vitamins? (p. 88)
______________________________________________________________________________
69. A 4-year-old boy needs to use his upper extremities to push against his legs in order to stand up.
What maneuver is he using? (p. 89) _________________________________________________

page 7
70. A male patient has a long face, a large jaw, large ears, autism, and macroorchidism. What is the
most likely diagnosis? (p. 89) _______________________________________________________
71. Before his anticipated death, a 42-year-old man had received many years of treatment for
depression, severe cognitive decline, and involuntary writhing movements. His father had similar
symptoms shortly before his death. What is the cause of this patient’s most likely disease? (pp. 89,
454) __________________________________________________________________________
72. A newborn is diagnosed with Down syndrome. She is vomiting bilious material. What is the most
likely cause? (p. 90) ______________________________________________________________
NUTRITION
73. Match each set of symptoms/conditions with the vitamin that is deficient. (pp. 92-96)
_____ A. Bruising, anemia, swollen gums, and poor wound healing 1. Biotin
_____ B. Cheilosis and corneal vascularization 2. Folic acid
_____ C. Convulsions, hyperirritability, peripheral neuropathy, 3. Vitamin A
and sideroblastic anemia 4. Vitamin B1
_____ D. Dermatitis, enteritis, and alopecia 5. Vitamin B2
_____ E. Dermatitis, enteritis, alopecia, and adrenal insufficiency 6. Vitamin B3
_____ F. Diarrhea, dermatitis, and dementia 7. Vitamin B5
_____ G. Hemolytic anemia, muscle weakness, and neuropathy 8. Vitamin B6
_____ H. Hemorrhagic disease of the newborn 9. Vitamin B12
_____ I. Hypocalcemic tetany 10. Vitamin C
_____ J. Macrocytic, megaloblastic anemia with no 11. Vitamin D
neurologic problems 12. Vitamin E
_____ K. Macrocytic, megaloblastic anemia, subacute combined 13. Vitamin K
degeneration, paresthesia, and optic neuropathy
_____ L. Night blindness
_____ M. Wernicke-Korsakoff syndrome
74. Which vitamin or mineral is a cofactor for many transcription factors, and has dysgeusia as a
symptom of its deficiency? (p. 96) ___________________________________________________
METABOLISM
75. Match each of the following processes with its rate-determining enzyme. (p. 99)
_____ A. Cholesterol synthesis 1. Acetyl-CoA carboxylase

_____ B. De novo purine synthesis 2. Carbamoyl phosphate synthetase I
_____ C. De novo pyrimidine synthesis 3. Carbamoyl phosphate synthetase II
_____ D. Fatty acid oxidation 4. Carnitine acyltransferase I
_____ E. Fatty acid synthesis 5. Fructose-1,6-bisphosphatase
_____ F. Glycogenesis 6. G6PD
_____ G. Glycolysis 7. Glutamine-PRPP amidotransferase
_____ H. Gluconeogenesis 8. Glycogen phosphorylase
_____ I. Glycogenolysis 9. Glycogen synthase
_____ J. HMP shunt 10. HMG-CoA reductase
_____ K. Ketogenesis 11. HMG-CoA synthase
_____ L. TCA cycle 12. Isocitrate dehydrogenase
_____ M. Urea cycle 13. Phosphofructokinase-1

76. Fill in the rectangles in the following diagram. Which steps of glycolysis are reversible? (Add one-
or two- sided arrows to the squares.) (p. 100)
77. How many ATP molecules can be created by the aerobic and anaerobic metabolism of glucose?
(p. 101) ________________________________________________________________________
78. The α-ketoglutarate dehydrogenase complex and the pyruvate dehydrogenase complex require the
same five cofactors; what are these cofactors? (pp. 102-103) ______________________________
_______________________________________________________________________________
79. List the four irreversible enzymes in gluconeogenesis. (p. 104) _____________________________
_______________________________________________________________________________

page 9
80. What are Heinz bodies? What are bite cells? (pp. 106, 386) _______________________________
_______________________________________________________________________________
81. Fill in the boxes on the image below, noting the substrates of the urea cycle. (p. 108)

82. Fill in the boxes in the following chart, noting the enzymes that catalyze each step of catecholamine
synthesis. (p. 110)
83. A 16-year-old boy presents for a routine visit. Physical examination shows symptoms consistent
with Fabry disease. What is the inheritance pattern of this disease? (p. 114) _______________
______________________________________________________________________________

page 11
84. For each lysosomal storage disease in the chart below, name the enzyme and accumulated
substrate(s). (p. 114)
Accumulated
Disease Deficient Enzyme
Substrate
Fabry disease
Gaucher disease
Hunter syndrome
Hurler syndrome
Krabbe disease
Metachromatic
leukodystrophy
Niemann-Pick disease
Tay-Sachs disease
85. Most mucopolysaccharidoses are inherited in a(n) _______________-_______________ pattern;

the exception is _______________. (p. 114)
86. Most sphingolipidoses are inherited in a(n) _______________-_______________ pattern; the

exception is _______________. (p. 114)
87. Which cell-type(s) cannot use ketones as an energy source? Why? (p. 116) __________________
_______________________________________________________________________________
88. What is the target enzyme of the lovastatin? (p. 117) ____________________________________
89. Which apolipoprotein binds to the LDL receptor? On which lipoproteins is it found? (p. 118) ______
______________________________________________________________________________
90. Match the lipoprotein with its function. (p. 118)

_____ A. Delivers dietary TGs to peripheral tissues 1. Chylomicron
_____ B. Delivers hepatic cholesterol to peripheral tissues 2. HDL
_____ C. Delivers hepatic TGs to peripheral tissues 3. IDL
_____ D. Delivers TGs and cholesterol to liver 4. LDL
_____ E. Mediates cholesterol transport from periphery to liver 5. VLDL
91. In which organ(s) is HDL produced? (p. 118) __________________________________________

Answers
MOLECULAR
1. H1.
2. Heterochromatin.
3. Euchromatin. (It is less condensed and accessible to transcription factors.)
4. Increasing melting temperatures due to the tighter binding of the strands.
5. Ribonucleotide reductase.
6. Thymidylate synthase; dihydrofolate reductase.
7. Ornithine transcarbamylase deficiency. (Orotic aciduria does not have hyperammonemia.)
8. This child has Lesch-Nyhan syndrome, which is characterized by mental retardation, self-
mutilation, aggression, hyperuricemia, gout, and choreoathetosis. It is caused by the absence of
HGPRT, which leads to a defective purine salvage pathway.
9. DNA polymerase III has 3' to 5' exonuclease activity for proofreading.
10. DNA polymerase I.
12. The third position (due to tRNA wobble).
13. Frameshift.
11. Fluoroquinolones. (They impair bacterial DNA synthesis.)
14. Nucleotide excision repair.
15. During nucleotide repair, the entire nucleotide structure is removed and replaced. During base
excision repair, the base is clipped off of the sugar and repaired without the entire backbone of the
DNA being taken apart.
16. The mismatch repair system.
17. A significant decrease in gene transcription.
18. mRNA is the largest type, tRNA is the smallest, and rRNA is the most numerous type of RNA.
19. α-Amanitin. (When consumed, it causes liver failure.)
20. RNA polymerase II.
21. RNA polymerase III.
22. Lupus.

page 13
23. Alternative splicing. (In this case, the alternative splicing yields a pathologic protein.)
24. (1) Aminoacyl-tRNA binds to the A site. (2) Peptidyltransferase adds a peptide to the amino acid
chain at site A. (3) The ribosome advances three nucleotides in the 3′ direction, thereby moving the
peptidyl tRNA to the P site.
CELLULAR
25.
26. Transition from G1 to S phase. (Defective cells are not allowed to undergo DNA synthesis.)
27. A-2, B-3, C-1.
28. Goblet cells (secrete mucus) and plasma cells (secrete antibodies).
29. Liver hepatocytes and steroid-hormone–producing cells of the adrenal cortex.
30. I-cell disease.
31. Kinesin.
32. Griseofulvin.
33. Mebendazole and thiabendazole.
34. Kartagener syndrome.
35. Microtubules.
36. Intermediate filaments.
37. It increases cardiac contractility by increasing intracellular calcium concentration.

38. A-4, B-1, C-2, D-3.
39. Scurvy; the limes supplied the sailors with the vitamin C they needed during their long voyage (and
earned them the nickname "limeys").
40. Osteogenesis imperfecta.
41. Ehlers-Danlos syndrome.
42. Blue sclerae.
43. Lysyl oxidase.
44. Fibrillin.
45. Emphysema. (α1-Antitrypsin inhibits elastase, which degrades elastin; therefore, lack of α1-
antitrypsin can lead to loss of elastin in the lungs, thereby resulting in emphysema.)
LABORATORY TECHNIQUES
46. The DNA polymerase in PCR needs to be stable at high temperatures, since you need to
repeatedly melt the DNA into a single-stranded form. Therefore, the heat-stable polymerase from
the thermophilic bacteria Thermos aquaticus (Taq polymerase) is used.
47. A fragment of 10 kD; smaller molecules travel farther since they are less hindered by the gel.
48. Southern: DNA is run on an electrophoresis gel and transferred to a filter; the DNA on the filter is
denatured and exposed to a labeled DNA probe; the double-stranded DNA is visualized when the
filter is exposed to film.
Northern: RNA is run on an electrophoresis gel and transferred to a filter; the RNA on the filter is
exposed to a labeled DNA probe; the hybrid DNA-RNA molecule is visualized when the filter is
exposed to film.
Western: Sample protein is separated via gel electrophoresis and transferred to a filter; labeled
antibody is used to bind and detect the protein of interest.
49. Microarrays.
50. An ELISA using a test antibody can determine whether a particular antigen is present in the
patient's blood. This is a direct ELISA.
51. FISH allows for identification of anomalies at the molecular level, including deletions that are too
small to see on a karyotype.
52. Karyotyping.
GENETICS
53. When a tumor suppressor gene has only one functional allele due to an inherited mutation or
deletion of the other, and then a cell loses the remaining allele as well. Consequently, having no
functional alleles permits a neoplastic transformation.

page 15
54. Locus heterogeneity.
55. 2pq.
56. Prader-Willi syndrome is inherited via deactivation of the paternal copies of genes on chromosome
15 or can occur via uniparental disomy. Symptoms include mental retardation, hyperphagia,
obesity, hypogonadism, and hypotonia.
57. Angelman syndrome is inherited via deactivation of the maternal copies of genes on chromosome
15 or can occur via uniparental disomy. Symptoms include mental retardation, seizures, ataxia, and
inappropriate laughter.
58. A-5, B-1, C-2, D-3, E-4.
59. 50%.
60. False. (Her sons and daughters may be affected.)
61. Dominant; recessive.
62. Arteriovenous malformations. (This constellation of symptoms is typical of hereditary hemorrhagic

telangiectasia.)
63. Refractory hereditary spherocytosis can be cured by splenectomy.
64. Marfan syndrome. (It is associated with cystic medial necrosis of the aorta [which may lead to a
dissection] as well as a floppy mitral valve prone to prolapse.)
65. Chromosome 17.
66. CF is due to a defect in the CFTR gene on chromosome 7 that affects the chloride channel.
67. N-acetylcysteine.
68. Vitamins A, D, E, and K (all of which are fat soluble).
69. Gowers maneuver. (This action is necessary due to weakness of the proximal muscles.)
70. Fragile X syndrome. (Remember: Fragile X = eXtra large testes, jaw, and ears.)
71. The patient has classic symptoms of Huntington disease, which is caused by an expansion of CAG
trinucleotide repeats on chromosome 4.
72. Duodenal atresia.
NUTRITION
73. A-10, B-5, C-8, D-1, E-7, F-6, G-12, H-13, I-11, J-2, K-9, L-3, M-4.
74. Zinc.

METABOLISM
75. A-10, B-7, C-3, D-4, E-1, F-9, G-13, H-5, I-8, J-6, K-11, L-12, M-2.
76.
77. Aerobic glucose metabolism produces 32 ATP molecules per molecule of glucose in heart and liver
and 30 in muscle. Anaerobic glucose metabolism products only 2 net ATP molecules per molecule
of glucose.
78. Vitamins B1, B2, B3, and B5, and lipoic acid.
79. Pyruvate carboxylase, PEP carboxykinase, fructose-1,6-bisphosphatase, and glucose-6-

phosphatase.
80. Heinz bodies are clumps of denatured hemoglobin precipitates that stick to an RBC’s membrane.
When the RBC passes through the spleen, macrophages remove the Heinz bodies, which make
the cell look as if a bite were taken out of it.

page 17
81.

82.
83. X-linked recessive.
84.
Accumulated
Disease Deficient Enzyme
Substance(s)
Fabry disease α-galactosidase A Ceramide trihexoside
Gaucher disease β-glucocerebrosiderase Glucocereboside
Heparan sulfate,
Hunter syndrome Iduronate sulfatase
dermatan sulfate
Heparan sulfate,
Hurler syndrome α-L-iduronidase
dermatan sulfate
Krabbe disease Galactocerebrosidase Galactocerebroside
Metachromatic
Arylsulfatase A Cerebroside sulfate
leukodystrophy
Niemann-Pick disease Sphingomyelinase Sphingomyelin
Tay-Sachs disease Hexosaminidase A GM2 ganglioside

page 19
85. Autosomal-recessive; Hunter disease.
86. Autosomal-recessive; Fabry disease.
87. Erythrocytes, because they have no mitochondria.
88. HMG-CoA reductase
89. B-100; VLDL, IDL, LDL.
90. A-1, B-4, C-5, D-3, E-2.
91. Liver and intestine.

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page 1

Facts in First Aid for Corresponding First Aid Workbook

Copyright © 2014 by MedIQ Learning, LLC All rights reserved v1.0

3. What is the name for transcriptionally active DNA? (p. 66)_________________________________

5. Which enzyme is inhibited by hydroxyurea? (p. 67) ______________________________________

6. 5-Fluorouracil inhibits _______________, whereas both methotrexate and trimethoprim inhibit

Copyright © 2014 by MedIQ Learning, LLC All rights reserved v1.0

20. In eukaryotes, what enzyme makes mRNA? (p. 73) _____________________________________

21. In eukaryotes, what enzyme makes tRNA? (p. 73) ______________________________________

Copyright © 2014 by MedIQ Learning, LLC All rights reserved v1.0

32. Which antifungal agent targets microtubules? (p. 78) ____________________________________

33. Which antihelminthic drugs target microtubules? (p. 78) __________________________________

38. What type of collagen is found in each structure? (p. 79)

Copyright © 2014 by MedIQ Learning, LLC All rights reserved v1.0

Copyright © 2014 by MedIQ Learning, LLC All rights reserved v1.0

_____ A. _____ B. _____ C.

61. Adult polycystic kidney disease is inherited in an autosomal- _______________ (dominant/

Copyright © 2014 by MedIQ Learning, LLC All rights reserved v1.0

_____ A. Cholesterol synthesis 1. Acetyl-CoA carboxylase

Copyright © 2014 by MedIQ Learning, LLC All rights reserved v1.0

Copyright © 2014 by MedIQ Learning, LLC All rights reserved v1.0

Copyright © 2014 by MedIQ Learning, LLC All rights reserved v1.0

Copyright © 2014 by MedIQ Learning, LLC All rights reserved v1.0

85. Most mucopolysaccharidoses are inherited in a(n) _______________-_______________ pattern;

86. Most sphingolipidoses are inherited in a(n) _______________-_______________ pattern; the

90. Match the lipoprotein with its function. (p. 118)

91. In which organ(s) is HDL produced? (p. 118) __________________________________________

Copyright © 2014 by MedIQ Learning, LLC All rights reserved v1.0

3. Euchromatin. (It is less condensed and accessible to transcription factors.)

4. Increasing melting temperatures due to the tighter binding of the strands.

6. Thymidylate synthase; dihydrofolate reductase.

7. Ornithine transcarbamylase deficiency. (Orotic aciduria does not have hyperammonemia.)

10. DNA polymerase I.

12. The third position (due to tRNA wobble).

11. Fluoroquinolones. (They impair bacterial DNA synthesis.)

14. Nucleotide excision repair.

16. The mismatch repair system.

17. A significant decrease in gene transcription.

19. α-Amanitin. (When consumed, it causes liver failure.)

20. RNA polymerase II.

21. RNA polymerase III.

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27. A-2, B-3, C-1.

29. Liver hepatocytes and steroid-hormone–producing cells of the adrenal cortex.

30. I-cell disease.

33. Mebendazole and thiabendazole.

34. Kartagener syndrome.

36. Intermediate filaments.

37. It increases cardiac contractility by increasing intracellular calcium concentration.

Copyright © 2014 by MedIQ Learning, LLC All rights reserved v1.0

38. A-4, B-1, C-2, D-3.

40. Osteogenesis imperfecta.

41. Ehlers-Danlos syndrome.

42. Blue sclerae.

43. Lysyl oxidase.

Copyright © 2014 by MedIQ Learning, LLC All rights reserved v1.0

54. Locus heterogeneity.

58. A-5, B-1, C-2, D-3, E-4.

60. False. (Her sons and daughters may be affected.)

___ A. _ B. ___ C.

85. Most mucopolysaccharidoses are inherited in a(n) _-_ pattern;

86. Most sphingolipidoses are inherited in a(n) _-_ pattern; the