SNL DES SGU BPM I FTM-1 Practice Exam

The following document contains questions from the FTM-1 module that were 1) originally
created as well as 2) drawn from various sources such as textbooks, other DES group pages etc.
It is 103 questions long and is in our opinion similar in style and content to the real exam. It is
intended to be used as a practice tool. Do not just focus on these practice questions for the
exam – ensure that all material is reviewed sufficiently.

1. The drug actinomycin D is highly toxic and inhibits DNA synthesis and transcription in both
prokaryotes and eukaryotes, and causes DNA damage. Actinomycin D exerts its toxic effects by
(A) Inhibiting topoisomerase I
(B) Binding irreversibly to primase
(C) Inhibiting DNA helicase
(D) Intercalating with bases in DNA
(E) Inhibiting DNA polymerase III and DNA polymerase delta

2. An infant was born normally with no complications but develops microcephaly and infantile
seizures 2 months later. A metabolic encephalopathy is suspected. Where is the transporter
affected by this disease found in highest amounts?
(A) Skeletal tissue
(B) Cardiac tissue
(C) Erythrocytes
(D) Hepatocytes
(E) Seminal vesicle epithelium

3. Which of the following statements concerning the diffusion of water that is true?
(A) The net flux of water is from an area of low solute concentration to high solute
concentration
(B) It requires a semi-permeable membrane
(C) It requires energy
(D) Both A and B
(E) A, B and C

4. A 26-year old female presents with a fever (102 degrees). Under such conditions, membrane
fluidity would be markedly increased which in turn would produce decrease molecular order
amongst membrane fatty acid chains. Vital membrane transporters would also malfunction.
Which of the following molecules helps stabilize membrane fluidity during fever?
(A) Sphingomyelin
(B) Cholesterol
(C) Cholesteryl ester
(D) Phosphatidylethanolamine
(E) Phosphatidylinositol

5. Tumors are designed in such a way that they are able to replicate without proper signals to
stop. This can occur by multiple mechanisms. One mechanism recently discovered was
abnormal silencing of tumor suppressor genes. Which of the following would you expect to see
near tumor suppressor genes of malignant cells?
(A) Modification of a cytosine to 5-methylcytosine using DNA methyltransferase
(B) Removal lysines and arginine
(C) Modification of histones by adding acetyl groups
(D) Adding negative charges to the histone proteins
(E) Euchromatic formation

6. A 32-year old female walks into the clinic with painful urination and a foul smell in the urine.
She was also running a fever of 100oF. The attending physician diagnosis the patient with an
acute bacterial UTI. The physician knows the best course of treatment would be to prescribe an
antibiotic that inhibits an enzyme that helps bacteria relieve negative supercoils. Which
antibiotic should the physician prescribe?
(A) Decitabine
(B) Campothecin
(C) Etoposide
(D) Ciprofloxacin
(E) Azidothymidine

7. Recent evidence suggests that sodium butyrate has anti-proliferative effects on various
cancers including prostate cancer. Sodium butyrate is an inhibitor of histone deacetylase. What
will be the effect of sodium butyrate on gene expression and DNA packaging? It will
(A) Reduce levels of transcriptional activity
(B) Cause the formation of euchromatin
(C) Increase the positive charge of histone proteins
(D) Increase global levels of DNA methylation
(E) Increase the affinity of DNA for the nucleosome

8. A 24-year old student examines histological images with a Transmission Electron Microscope
(TEM) and comes upon the following organelle. What is the function of this organelle?

(A) Protein synthesis

(B) Lipid synthesis
(C) Metabolism of very-long chain fatty acids
(D) ATP production
(E) Intracellular vesicular transport

9. A 59-year old man comes to the hospital with crushing chest pain radiating into his left arm.
Serum CK-MB was measured to confirm the diagnosis of MI. Which of the following statements
is correct regarding the enzyme in this scenario?
(A) It peaks two days after the MI
(B) It accumulates later than cardiac troponins
(C) It shows a shark peak in the serum after a MI
(D) It is less than 1% of total CK
(E) It has the same time course as LDH-1

10. Two compartments (X and Y) of water are separated by a semipermeable membrane. The
concentrations of impermeant solute at time zero are shown in the following drawings. Which
of the drawings below best represents the volumes of X and Y when the system reaches
equilibrium?

11. A 67-year old woman is diagnosed with rheumatoid arthritis. The physician prescribes a
short course of a steroid drug for symptomatic relief of her symptoms. Steroids will exert their
function via which of the following mechanisms of action?
(A) Increasing IP3 levels
(B) Increasing cAMP levels
(C) Affecting gene expression
(D) Activating tyrosine kinase receptors
(E) Activating ligand-gated K+ channels

12. Substance X has an intracellular concentration of 15 mM and an extracellular concentration

of 145 mM. Substance Y has an intracellular concentration of 40 mM and an extracellular
concentration of 20 mM. The direction of transport for both substance X and substance Y is
from extracellular to intracellular. What type of membrane transport best describes the
movement of Y and X?
(A) Secondary active cotransport
(B) Primary active transport
(C) Secondary active exchange
(D) Simple passive diffusion
(E) Facilitated diffusion

13. Solutions A and B are separated by an artificial semipermeable membrane. Solution A

contains 10 mM glucose and 10 mM testosterone. Solution B contains 10 mM glucose. The
reflection coefficient is 1 for glucose and 0 for testosterone. Which of the following statements
about these solutions is correct?
(A) Solution B is isosmotic and hypotonic when compared to Solution A
(B) Solution B is hyposmotic and isotonic when compared to Solution A
(C) Solution B is hypertonic when compared to Solution A
(D) Solution B is hyperosmotic when compared to Solution A
(E) The two solutions are isosmotic and isotonic

14. A 22-year old woman and a 23-year old man present for genetic counseling. Both are
Caucasian and have a close relative with a disease that affects the CFTR gene. What would be
the most appropriate method to assess the risk that this couple has of transmitting this disease
to their potential child?
(A) Western blot of the CFTR protein
(B) Biochemical testing (sweat chloride testing)
(C) FISH
(D) Karyotype analysis with Giemsa stain
(E) PCR with ASO

15. A 4th term SGU medical student has been stressed due to the 14 hours of lab she has each
week. Her chronic stress causes a higher than normal level of cortisol in her blood. Which of the
following molecules is a precursor of her cortisol?
(A) Sphingomyelin
(B) Aldosterone
(C) Vitamin D
(D) Cholesterol
(E) omega-6 fatty acid

16. A 40-year old overweight man comes to the endocrinologist to ask questions about his
diabetes. Of the many questions the man asks, one of the questions is about why his blood
sugar is high when he does not take his insulin. Which of the following is the best response to
this question?
(A) No insulin 🡪 decreased SGLT-1 transport 🡪 decreased absorption from the GIT 🡪 high blood
glucose
(B) No insulin 🡪 increased activity of SGLT-1 transport 🡪 increased absorption from the GIT 🡪
high blood glucose
(C) No insulin 🡪 no GLUT-4 🡪 no uptake into fat cells and skeletal muscle 🡪 high blood sugar
(D) No insulin 🡪 increased GLUT-5 🡪 increased fructose uptake 🡪 higher blood sugar
(E) No insulin 🡪 no GLUT-2 no uptake into liver 🡪 high blood sugar
17. The rate of diffusion of a substance across a cell membrane will increase if:
(A) The concentration gradient across the membrane decreases
(B) The molecular weight of the substance increases
(C) The surface area of the membrane decreases
(D) The thickness of the membrane increases
(E) The lipid solubility of the substance increases

18. During an action potential when the membrane potential is at its peak (+50 mV), which ion
has the greatest driving force assuming equilibrium potentials of E K = -80mV, ECl = -40mV, ENa =
+60mV and ECa = +80mV
(A) Calcium
(B) Potassium
(C) Glucose
(D) Chloride
(E) Sodium

19. A 40-year old man came to the neurologist displaying signs of marked involuntary
movements at times of rest. Upon examining the patient, the neurologist finds out that his
patient’s dad died of a similar disease at the age of 50. The disease involves a triplet repeat of
CAG. The patient was later diagnosed with Huntington’s disease. Which of the following can be
seen in this disease?
(A) Variable expressivity
(B) Anticipation
(C) Incomplete penetrance
(D) Linkage disequilibrium
(E) Pleiotropy

20. Which one of the following is true of DNA?

21. A 3-day old newborn presents with hypotonia, poor feeding, seizures, hearing loss, vision
loss, distinctive facial features, and skeletal abnormalities. She is diagnosed with Zellweger
Syndrome. As a result, which of the following functions is most likely impaired in this patient?
(A) Protein synthesis
(B) Lipid synthesis
(C) Metabolism of very-long chain fatty acids
(D) ATP production
(E) Intracellular vesicular transport

22. A 4-year old child is seen by the doctor and is found to have mild intellectual disability and
rapid weight gain associated with a huge appetite. The pediatrician later makes the diagnosis of
Prader-Willi syndrome. Molecular diagnostic analysis of the child will likely reveal which of the
following?
(A) Promoter mutation of the maternal SNRPN gene
(B) Inability to produce SNPRN protein
(C) Duplication of the paternal UBE3A gene
(D) Maternal deletion of the UBE3A gene
(E) Paternal imprinting of the SNRPN gene

23. The following concentrations of ions in a system are observed:

Intracellular Extracellular
[K+] 120 mM 12 mM
[Na+] 14 mM 140 mM
[Cl-] 20 mM 100 mM
Assuming that RT/zF = -60 mV, what are the equilibrium potentials (in mV) for the ions depicted
above?
(A) EK = -60, ENa = +60, ECl = -42
(B) EK = -60, ENa = +60, ECl = +42
(C) EK = +60, ENa = +60, ECl = +42
(D) EK = +60, ENa = -60, ECl = -42
(E) EK = -60, ENa = -60, ECl = +42

24. A 68-year old man with a history of GERD suffers a massive stroke and expires. Tissue from
the lower esophagus was taken at autopsy and stained for microscopic investigation. It was
noted that the lower part of the esophagus presented with simple columnar epithelium with
goblet cells (intestinal epithelium). Which of the following types of cell adaptations is best
displayed by this scenario?
(A) Hypertrophy
(B) Hyperplasia
(C) Atrophy
(D) Metaplasia
(E) Carcinoma in situ

25. Which inheritance pattern best fits the disease shown in the pedigree?
(A) Autosomal recessive
(B) Autosomal dominant
(C) X-linked recessive
(D) X-linked dominant
(E) Mitochondrial

26.Germline mosaicism would be the most likely explanation for which of the following?
(A) First cousins with Angelmann Syndrome
(B) Father to son transmission of sickle cell disease
(C) Deafness in fraternal twins who are each heterozygous for a GJB2 mutation
(D) Healthy parents having 2 children with Osteogenesis Imperfecta Type I
(E) The birth of a child with Down syndrome to consanguineous parents

28. A portion of the small intestine is collected at autopsy and sections are stained with
Periodic-Acid-Schiff and counterstained with hematoxylin. The mucosa is examined on light
microscopy. Which of the following could be seen easily due to the use of the PAS stain?
(A) Collagens
(B) Lipids
(C) Nucleic acids
(D) Proteins
(E) Sugars

29. A bacterial mutant grows normally at 32oC, but at 42oC, accumulates short segments of
newly synthesized DNA. Which one of the following enzymes is most likely to be defective at
the non-permissive temperature (the higher temperature) in this mutant?
(A) DNA primase
(B) DNA polymerase
(C) An exonuclease
(D) An unwinding enzyme (helicase)
(E) DNA ligase

30. An 8-year old male presents to the ED experiencing bronchoconstriction. Which of the
following is an important direct mediator of bronchoconstriction?
(A) DHA
(B) Palmitic acid
(C) Leukotrienes
(D) Prostaglandins
(E) Thromboxane

31. A 2-year old male patient is identified to have Prader-Willi Syndrome as a result of
uniparental disomy. In this case, he has lost the paternal contribution of chromosome 15 and
instead he has two copies of his maternal chromosome 15. Which genetic mechanism allowed
this patient to inherit two copies of chromosome 15 from his mother?
(A) Heteroplasmy
(B) Anticipation
(C) Trisomy rescue
(D) Lyonization
(E) Allelic heterogeneity

32. Individuals from a foreign land possess a point mutation in a 10 exon enzyme “X” that
introduces a new 5’ donor splice site into the middle of exon 5. Assuming a premature stop
codon is not generated, which of the following is most likely to occur?
(A) The X mRNA will be longer
(B) The X mRNA will be shorter
(C) Exon 5 and Intron 5 will be removed
(D) Exon 5 will be spliced out
(E) There will be no effect

33. A 24-year old medical student is studying for his 1st test of medical school. One of his friends
is quizzing him and shows him this image. He asks the medical student what areas in the body
this specialization is found and what epithelium is found at those areas. The medical student
quickly says…

(A) Intestine with simple columnar epithelium

(B) Respiratory epithelium with pseudostratified columnar
(C) Kidney tubules with simple cuboidal
(D) Epididymus with pseudostratified and intestine with simple columnar
(E) Respiratory tract with pseudostratified and fallopian tubes with simple columnar

34. In the intestine, the apoB mRNA is a truncated version of the apoB found in the liver. The
last codon of the truncated is UAA. The enzyme that produces the truncated version is called?
(A) Adenosine Deaminase
(B) Uridyl Transferase
(C) Endonuclease
(D) Guanylytransferase
(E) Cytidine Deaminase

35. A 24-year old female presents to your office with extreme fatigue and a characteristic
butterfly rash across her face. After more testing, she is diagnosed with Systemic Lupus
Erythematosus. This autoimmune disease is characterized by antibodies against U1. In regards
to the patient’s mRNA:
(A) The patient’s mRNA will be longer
(B) The patient’s mRNA will be unaffected
(C) The patient’s mRNA will be shorter
(D) There will be reduced 3’ splice sites
(E) There will be increased 3’ splice sites

36. A 63-year old male patient presents to the ER complaining of fever, general malaise, and
extreme tenderness to an open wound on his right big toe. The patient has diabetes. After
blood cultures are grown a bacteria susceptible to erythromycin is identified. What is the
mechanism of action this drug?
(A) Inactivation of EF-2
(B) Irreversible binding of the 50S subunit
(C) Inhibition of peptidyl transferase
(D) Accepts peptide from P site
(E) Blocks access of aminoacyl tRNA

37. A 53-year old man with a history of chronic alcohol abuse comes to the doctor for a
checkup. The doctor noticed that his stomach was swollen (ascites) and his skin appeared to be
yellow (jaundiced). Worrying about malfunction of one of the organs in the body, the doctor
orders bloodwork. Which of the following is expected to be true in regards to his blood
enzymes?
(A) Elevated lipase and amylase with lipase: amylase > 2
(B) Elevated lipase and amylase with amylase: lipase > 2
(C) Elevated ALP and AST with AST: ALP ratio > 2
(D) Elevated AST and ALT with AST: ALT > 2
(E) Elevated AST and ALT with ALT: AST > 2

38. A temperature-sensitive cell line would show early senescence when grown at the non-
permissive temperature and examination of the chromosomes demonstrated many 3’
overhangs at the ends of the DNA fragments. The defective enzyme, at the non-permissive
temperature, is which one of the following?
(A) DNA helicase
(B) Telomerase
(C) DNA polymerase III
(D) DNA ligase
(E) DNA polymerase

39. A PCN-allergic child was given sulfonamides for otitis media. This drug is used for some
types of bacterial infections. It can be used as an antimicrobial due to human cells being
resistant to the drug. Human cells are resistant to sulfonamides due to which of the following?
(A) Sulfonamides are specific for prokaryotic DNA polymerases
(B) Sulfonamides are specific for prokaryotic RNA polymerases
(C) Sulfonamides inhibit a metabolic pathway not present in eukaryotic cells
(D) Sulfonamides inhibit bacterial ribonucleotide reductase, but not the human form of that
enzyme
(E) Sulfonamides inhibit prokaryotic mismatch repair, but not eukaryotic mismatch repair

40. A 24-year old female comes to your office complaining of a cough and fever. You find out
that she has had recurrent P. aeruginosa infections in the past. She also has fatty stools. A
sweat test comes back positive for chloride. Cystic fibrosis is diagnosed. Which membrane
transporter is defective in this patient?
(A) GLUT-2
(B) GLUT-5
(C) SGLT-2
(D) CFTR
(E) GLUT-1

41. What is the calculated osmolarity of a solution containing 12 millimolar NaCl, 4 millimolar
KCl, and 2 millimolar CaCl2 (in mOsm/L)?
(A) 18
(B) 20
(C) 29
(D) 32
(E) 38
(F) 42

42. A 30 weeks of gestation premature neonate arrives to your NICU with difficulty breathing.
Your attending believes the problem is associated with a lack of a lipid. What type of lipid does
the baby lack?
(A) Sphingophospholipid
(B) Cerebroside
(C) Fatty acids
(D) Globoside
(E) Glycerophospholipid

43. Which inheritance pattern best fits the disease shown in the pedigree?

(A) Autosomal recessive

(B) Autosomal dominant
(C) X-linked recessive
(D) X-linked dominant
(E) Mitochondrial

44. Brendan goes to the hospital with diarrhea and vomiting for 2 days. The hospital discharged
him and told him to get some immodium and man up. He felt better, but a couple of days later,
he was brought back to the hospital and admitted with renal and liver failure. Brendan died 7
days later. After his death, his friends told the doctor that he tried a new strain of shrooms that
a dealer outside Bananas was selling. Little did he know that the shrooms weren’t the shrooms
he was looking for, and would have the following effects:
(A) Inability to make rRNA
(B) Inability to make mRNA
(C) Inhibition of DNA polymerase I
(D) Inhibition of DNA polymerase III
(E) Inability to make mRNA

45. A 23-year old female patient arrives to the ER by ambulance for evaluation of severe
hypoglycemia. It is later found out by blood analysis that her C-peptide is much lower than it
should be. This finding is very suspicious for factitious hypoglycemia. This peptide is cleaved in
which organelle?
(A) Lysosomes
(B) Golgi Apparatus
(C) Mitochondria
(D) Rough Endoplasmic Reticulum
(E) Smooth Endoplasmic Reticulum

46. A 15-year old child is brought to the doctor by his mom with concerns about the child’s
eyes. The doctor, after performing several tests, determines that the child has cancer
(retinoblastoma). The doctor starts thinking back to medical school and remembers that
retinoblastoma is due to a mutation in Rb. Which of the following effects would this mutation
have on the cell cycle?
(A) Mutation 🡪 increased inhibition of cells at the G2🡪M checkpoint
(B) Mutation 🡪 decreased inhibition of cells at the G2🡪M checkpoint
(C) Mutation 🡪 increased inhibition of cells at the G1🡪S checkpoint
(D) Mutation 🡪 decreased inhibition of cells at the G1🡪S checkpoint
(E) It doesn’t matter because Rb has no effect on either of these checkpoints

47. A 55-year old male was admitted to the hospital after suffering from a myocardial infarction.
The doctor on duty warns the patient to start taking a daily baby aspirin. The reason for starting
the patient on the ASA is due to its effects on decreasing clotting ability. Which of the following
is NOT true about the actions of this drug?
(A) Irreversible inhibition of COX
(B) Inhibits the ability of platelets to form thromboxane to stimulate coagulation
(C) Inhibits the ability of the endothelial cells to form prostacyclin to prevent clotting
(D) Inhibits the ability of platelets to form prostacyclin to prevent clotting
(E) Acts with a similar mechanism of action to di-isopropyl fluorophosphate

48. In this Lineweaver-Burke Plot, an enzyme’s kinetics are plotted 5 times with each successive
plot mixed with more inhibitor. Which of the following plots has the highest affinity for the
substrate? E = control

(A) A
(B) B
(C) C
(D) D
(E) E
(F) Equal Affinity

49. A child was brought to the doctor for checkup. The child was noted to have flat facies, a
single palmar crease, and intellectual disability. The doctor wants to run genomic tests to
confirm his suspicions of Down Syndrome. Which of the following techniques would be best for
confirmation of trisomy 21?
(A) ASO
(B) Northern blot
(C) Southern blot
(D) FISH
(E) PCR

50. A 10-year old boy sprains his ankle while running. History reveals that he has difficult
running, jumping, and keeping up with other children in races. His mother reports that she is
also clumsy. Physical exam demonstrates foot drop, weakness, sensory loss, and reduced
reflexes. The boy is found to have a decrease in nerve conduction velocity and an X-linked
mutation of connexion 32, consistent with Charcot-Marie Tooth (CMT) disease. The neuropathy
and gait disorder result because connexion is an important component of which of the
following?
(A) Gap Junction
(B) Microtubule
(C) Sarcoplasmic reticulum
(D) Sodium channel
(E) Synaptic vesicle

51. A 60-year old man takes 75 mg of aspirin daily. He was placed on this regimen by his
primary care provider as a preventionary measure to reduce the occurrence of clots. The
mechanism behind this results in?
(A) A greater ratio of TXA2 to PGI2
(B) Reduced capacity of endothelial cells to produce PGI2
(C) A greater ratio of PGI2 to TXA2
(D) Suicide inhibition of prostacyclin synthase
(E) Reduced capacity of platelets to produce TXA2

52. Which of the following best describes the changes in cell volume that will occur when red
blood cells (previously equilibrated in a 280 milliosomlar solution of NaCl) are placed in a
solution of 140 millimolar NaCl containing 20 millimolar urea, a relatively large but permeable
molecule?
(A) Cells shrink initially, then swell over time and lyse
(B) Cells shrink transiently and return to their original volume over time
(C) Cells swell and lyse
(D) Cells swell transiently and return to their original volume over time
(E) No change in cell volume will occur

53. Phosphatidylcholine is a major component of red blood cell membranes, myelin, surfactant,
and cholesterol. Phosphatidylcholine is synthesized through phosphorylation of choline
obtained from the diet or with reused choline derived from phospholipid turnover. De novo
synthesis requires an addition of three methyl groups, transferred from an amino acid. Without
the turnover component, deficiency in which essential amino acid would make dietary choline
essential for phosphatidylcholine synthesis?
(A) Asparagine
(B) Histidine
(C) Methionine
(D) Threonine
(E) Valine

54. A DNA segment is treated with restriction enzymes, pipetted into a well of polyacrylamide
gel, and subjected to an electric field. Next, the gel is stained with ethidium bromide and
visualized under ultraviolet lights. What laboratory technique does this describe?
(A) Enzyme-linked immunosorbent assay
(B) Gel electrophoresis
(C) Northern blot
(D) Polymerase chain reaction
(E) Sequencing
(F) Southern blot
(G) Western blot

55. A 32-year old man sees his physician after collapsing suddenly without any other physical
distress. Laboratory results demonstrate an elevated serum concentration of potassium and he
is diagnosed with periodic hyperkalemic paralysis, a clinical condition in which a sudden
increase in extracellular potassium concentration results in muscle weakness. Which of the
following is most likely to cause muscle weakness as a result of increased extracellular
potassium concentration?
(A) Hyperpolarization of the muscle cells
(B) Inactivation of Na+ channels in muscle cells
(C) Increased release of neurotransmitters from alpha motor neurons
(D) Decreased potassium conductance in muscle cells
(E) Increased duration of action potentials produced by alpha motor neurons

56. Which of the following disorders is most likely to be displayed by the affected members in
the family depicted by the pedigree shown?
(A) Neurofibromatosis
(B) Duchenne Muscular Dystrophy
(C) Glucose-6-phosphate dehydrogenase deficiency
(D) Mitochondrial encephalitis with lactic acidosis and stroke-like episodes
(E) Phenylketonuria

57. A karyotype is performed on an obese child and is entirely normal. Because the physician
suspects Prader-Willi Syndrome, southern blotting is performed to determine the origin of the
patient’s number 15 chromosome. In the figure below, a hypothetical Southern blot with DNA
probe D1558 defines which four restriction fragment length polymorphisms (RFLPs) are present
in the DNA from mother (M), child (C) and father (F). Based on the D1558 locus, what is the
origin of the child’s two number 15 chromosomes?

(A) One from the mother and one from the father
(B) Both from the father
(C) Both from the mother
(D) From neither parent
(E) Cannot tell because the locus is deleted in the child

58. Glucose is transported into human cells by two different families of membrane-associated
carrier proteins: the glucose transporter facilitators (GLUT) and the sodium-coupled glucose
transporters (SGLT). If a patient has a defect in the non-sodium-coupled glucose transporters,
which cell line is still able to acquire glucose?
(A) Adipocytes
(B) Enterocytes
(C) Erythrocytes
(D) Hepatocytes
(E) Myocytes
(F) Pancreatic beta cells

59. There is a solution in 2 chambers separated by a semi-permeable membrane to the

dissolved solutes. Suppose chamber A has the concentration of 20mg/L, while chamber B has
10mg/L, and the diffusion rate is 10mg/hour. What is the diffusion rate when the concentration
of chamber A doubles?
(A) 5 mg/hour
(B) 10 mg/hour
(C) 15 mg/hour
(D) 20 mg/hour
(E) 30 mg/hour

60. A 31-year-old white woman is trying to get pregnant. She has a niece who suffers from a
genetic disease characterized by recurrent respiratory infections and pancreatic failure. She
would like to assess her chances of having a child with this disease. Which of the following
laboratory techniques could be used to deter- mine if this woman and/or her husband is a
carrier of the mutant gene?
(A) Enzyme-linked immunosorbent assay
(B) Gel electrophoresis
(C) Northern blot
(D) Polymerase chain reaction and sequencing
(E) Western blot

61. A 4-year old boy is brought to the doctor by his mom because she is concerned about
weakness the boy has been having in muscles of the lower extremity. The doctor noticed on
physical exam a waddling gait. After genetic testing, the doctor confirms the presence of an X-
linked recessive condition resulting from a mutation in the DMD gene. Which of the following
kinds of mutations does this disease represent?
(A) Silent mutation
(B) Failure of mismatch repair
(C) Splice site mutation
(D) Frameshift mutation
(E) Addition of 2 nucleotides
62. A 25-year old male presents to the ED with intense abdominal pain. The physician notices
jaundice of the skin and sclera. The patient says that he is an IV drug user and has been doing it
for years. You suspect viral hepatitis. Which of the following lab values would be most likely
elevated in the hepatitis?
(A) CK-MM
(B) CK-MB
(C) Amylase
(D) Alanine Aminotransferase
(E) Lactate Dehydrogenase 1

63. A child is brought to the doctor by his mom with concern about neurological problems she
has been noticing. The doctor also noticed a cherry red macula spot on the patient’s eye. The
patient did not present with hepatosplenomegaly. The doctor later diagnosed the patient with
Tay-Sachs, which is characterized by a buildup of GM2 ganglioside. This is an example of which
of the following?
(A) Sphingoglycolipid
(B) Sphingomyelin
(C) Glycerophospholipid
(D) Cerebroside
(E) Sulfatide

64. While walking through a forest, a 38-year old female comes upon a bear and her cubs. The
woman’s sympathetic nervous system is activated releasing catecholamines from the adrenal
medulla through Gq signalling at a M1 receptor. This signalling involves the hydrolysis of IP3,
which is the phosphorylated version of which of the following?
(A) Phosphatidylethanolamine
(B) Phosphatidylserine
(C) Phosphatidylinositol
(D) Phosphatidylcholine
(E) Dipalmitoyl Lecithin

65. A 25-year old 1st year resident in the ER was told he needs to work the night shift. On the
first shift, he gets really tired and passes out for a couple of hours in one of the hospital beds.
When he wakes up, he apologizes for falling asleep and says he is not used to staying awake at
night. He then goes on to tell the nurse about melatonin, which is released from the pineal
gland at night, causing him to be tired. In time, his body will adjust to working nights and will
not release as much melatonin to make him tired during his shifts. This scenario would best fall
into which of the following?
(A) Negative feedback
(B) Positive feedback
(C) Redundancy
(D) Set point deviation
(E) Equilibrium
66. A 20-year old man comes to the doctor for a normal checkup. The doctor notices that the
man has undergone multiple transfusions over the last couple of years. This was due to a
hematologic disorder of the RBCs. Concerned about his patient, the doctor asks to do a tissue
biopsy of his patient’s spleen in order to microscopically examine his tissue for a pigment.
Which of the following pigments is most likely to be demonstrated upon histological
examination?
(A) Lipid
(B) Glycogen
(C) Hemosiderrin
(D) Melanin
(E) Lipofuscin

67. Which of the following diseases is most likely to be displayed by the affected members in
the family depicted by the pedigree below?

(A) Neurofibromatosis
(B) Duchenne muscular dystrophy
(C) Glucose-6-phosphate dehydrogenase deficiency
(D) Mitochondrial encephalitis with lactic acidosis and stroke-like symptoms (MELAS)
(E) Phenylketonuria

68. Which of the following, if given intravenously, would lower the intracellular fluid volume?
(A) 100 mOsm/L sodium chloride solution
(B) 150 mOsm/L sodium chloride solution
(C) 400 mOsm/L sodium chloride solution
(D) Whole blood
(E) Plasma

69. A 52-year old man is brought to the emergency room by his wife. He had suffered a mild
heart attack two years ago and experienced similar pain during the last night. His ECG does not
indicate an acute MI and blood samples are taken. His blood plasma is used to test for both,
total serum creatine kinase (CK) and serum CK-MB. What is the reasoning behind this?
(A) Total serum CK alone is an injury marker for the liver
(B) Increase of serum CK-MB but not of total CK indicates rhabdomyolysis
(C) Serum CK-MB larger than about 3 or 5% of total serum CK can indicate an acute MI
(D) Serum cTnT is also a marker for, but accumulates only after 2 days in blood
(E) Serum levels of CK-MB but not total serum CK are increased after an acute MI

70. As a 25-year old research assistant in the lab you are studying the miscellaneous organelle
found within a eukaryotic cell. One of the organelles you are assigned to learn about is the golgi
apparatus. Which of the following is involved in the movement of proteins from the ER to the
golgi?
(A) Dynein
(B) Kinesin
(C) Clathrin
(D) COP II
(E) COP I

71. A biopsy was taken from tumor cells from a woman who has advanced ovarian cancer. The
cells were analyzed and found to have multiple aberrations, breakages, insertions, fusions and
rearrangements. For instance, a portion of chromosome 8 was fused to chromosome 5, and
chromosome 1 had a large chunk of chromosome 14 inserted on the q arm. Another aspect of
this genome is the appearance of a large amount of extra-chromosomal material. Which type of
test would be used to generate data that identifies and displays these chromosomal defects in a
single image?
(A) cDNA microarray
(B) Spectral karyotype
(C) G-banding karyotype
(D) Southern blot
(E) Northern blot
(F) ASO probes
(G) FISH

72. A 50-year old male comes to the ER with altered mental status, right-sided weakness, and
slurred speech. A CT scan is ordered which reveals no evidence of bleeding in the brain. The
doctor tells the patient he is most likely having a stroke where a thrombus has occluded an
artery that supplies oxygen to the brain. Which of the following would most likely accumulate
in the cell due to the decrease of oxygen to the brain?
(A) K+
(B) Na+
(C) K+ and Na+
(D) Cl-
(E) Urea

73. The family shown in the pedigree is segregating a disease which is linked to a polymorphic
DNA linked marker denoted by the pairs of numbers under each family member (1, 2, 3 and 4
represent individual alleles for the DNA marker). Shaded individuals are affected with the
disorder. In this family, which marker is the disease most likely associated with?
(A) Marker 1
(B) Marker 2
(C) Marker 3
(D) Marker 4

74. A 50-year old male comes to the doctor with concerns about mass that has been growing
over the last year. Tissue biopsy reveals a malignant carcinoma. Genetic analysis reveals a
mutation in p21. Which of the following is the function that will be lost in this patient?
(A) Repairing of dsDNA breaks
(B) cdc24 inactivation
(C) CDK4/cyclin D inhibition
(D) APC inhibition
(E) CFTR inhibition

75. What can be concluded from the following Velocity vs. [S] curve?

(A) The more substrate added to the mix, the faster the reaction will go
(B) Line A represents an effector being feedback inhibited
(C) Line A has the most active sites
(D) The K0.5 of A is greater than the control
(E) Line B represents an effector being feed-forward activated

76. A patient of yours is found to have a mutation in Dnmt3. Which of the following would be
most direct result of this mutation?
(A) Inability to recruit MeCP2
(B) Increased formation of heterochromatin
(C) Inability to methylate DNA
(D) Inability to deacetylate histones
(E) Increased acetylation of histones

77. A researcher has identified multiple one nucleotide changes that are linked to an increased
risk for development of multiple sclerosis. Which of the following is best represented by these
findings?
(A) Pseudogene
(B) SNP
(C) VNTR
(D) Low copy repeat
(E) SSR

78. In the diagram shown below, the H represents invariant HindIII restriction sites, and the
asterisks represent polymorphic HindIII sites. What possible band sizes are expected to be
observed in the population after cutting with the HindIII restriction endonuclease, and using the
probe indicated?

(A) Band 1kb only

(B) Bands 1kb, 2kb, 3kb, 4kb, 5kb
(C) Bands 1kb, 2kb, 3kb
(D) Bands 1kb, 3kb, 4kb, 6kb
(E) Band 6kb only

79. A child with down syndrome is brought to the doctor for checkup by his mother. During the
appointment, the mother asks the doctor “What happened for my son to have down
syndrome”? If the doctor were explaining this in medical jargon, he would say it was due to…
(A) Frameshift mutation
(B) Meiotic non-disjunction
(C) Missense mutation
(D) Mismatch repair defect
(E) Failure of mitosis to be performed properly

80. Four persons in a family (labeled 1, 2, 3 and 4) with a single point mutation were tested for
a specific mutation by an ASO blot. RFLP analysis with a specific restriction endonuclease
revealed that the point mutation resulted in the creation of an additional restriction site. Which
of the shown RFLP patterns most likely represents these individuals?

(A) A
(B) B
(C) C
(D) D
(E) E

81. Helene is a carrier for DMD. She marries Gary, who also has BMD (defect in the same gene,
but a bit less severe). Helene has just given birth to a son. What is the probability that this child
will be affected with a muscular dystrophy disease (either BMD or DMD)?
(A) 0%
(B) 50%
(C) 25%
(D) 75%
(E) 100%

82. Atropine is a muscarinic antagonist that is used to treat patients with organophosphate
poisoning and bradycardia. Atropine works by binding to muscarinic receptors. In order to
reverse bradycardia, the drug binds to a receptor on the heart, which normally decreases free
available cAMP, and inhibits the normal activity of this receptor. What type of receptor is M2?
(A) Gs
(B) Gi
(C) Gq
(D) TRK
(E) Ligand-gated sodium channel
83. Solutions A and B are separated by a membrane that is permeable to urea. Solution A is 10
mM urea and solution B is 5 mM urea. If the concentration of urea in solution A is doubled, the
flux of urea across the membrane will be
(A) Double
(B) Half
(C) Same
(D) Decreased by 1/3rd
(E) Triple

84. A mass is felt in the groin of an infant girl during a physical examination. Surgical resection
shows that it is a testicle. The baby is diagnosed with testicular feminization syndrome. In this
syndrome, androgens are produced but cells fail to respond to the steroid hormones because
they lack appropriate intracellular receptors. After binding intracellular receptors, steroids
regulate the rate of which of the following?
(A) Initiation of protein synthesis
(B) mRNA degradation
(C) mRNA processing
(D) Protein translation
(E) Transcription of genes

85. A 6-month old boy was brought to the pediatrician due to frequent bacterial and viral
infections. Blood work shows the complete absence of B and T cells. Radiographic analysis
shows a greatly reduced thymic shadow. Treatment of the child with a stabilized protein
reverses the deficiencies. The protein has which of the following activities?
(A) Converts IMP to XMP
(B) Converts adenine to AMP
(C) Converts guanine to GMP
(D) Converts adenosine to inosine
(E) Converts guanosine to inosine

86. Genetic testing confirms that a newborn baby has Marfan syndrome. The mutation was
found in the fibrillin-1 gene, resulting in a mutant gene product, preventing assembly of a
multimeric protein. What is the genetic principle illustrated in the case?
(A) Dominant negative
(B) Haploinsufficiency
(C) Anticipation
(D) Gain of function
(E) Heteroplasmy

87. A 60-year old man with cancer is started on an anti-cancer regiment that is aimed at
inhibiting an enzyme that is found in eukaryotes and removes supercoils found in the genome.
Which of the following drugs was this man placed on?
(A) Methotrexate
(B) Etoposide
(C) Tetracycline
(D) Colchicine
(E) Taxol

88. A child is brought to the doctor because his mom is concerned about the child showing
signs of aggression and self-mutilation. After examination, the child is noted to have intellectual
impairment. An enzyme defect is suspected. Which of the following is true regarding this
condition?
(A) It is autosomal recessive
(B) Will cause a buildup of dATP
(C) The patient will have frequent bacterial infections
(D) Allopurinol will probably be prescribed at some point
(E) It is autosomal dominant

89. The RNA below as a mutation in the splice acceptor site for intron 1. What would be the
structure of the mature mRNA due to this mutation?

(A) Exon 1 + Exon 2 + Exon 3

(B) Exon 1 + Intron 1 + Exon 3
(C) Exon 1 + Exon 3
(D) Exon 1 + Exon 2 + Intron 2
(E) Exon 1

90. A 62-year old man presents to the emergency room with an acute onset of aphasia and
hemiparesis. A CT scan reveals an increase in intracranial fluid. Which of the following solutions
will be most effective in reducing intracranial pressure (ICP) following a large hemispheric
stroke?
(A) 150 mmol sodium chloride
(B) 250 mmol glycerol
(C) 250 mmol glucose
(D) 350 mmol urea
(E) 350 mmol mannitol

91. A 2-year-old boy presents to the pediatrician with fever, facial tenderness, and a green,
foul- smelling nasal discharge. The patient is diagnosed with sinusitis, and the physician notes
that he has a history of recurrent episodes of sinusitis. X-ray of the chest is ordered because of
the fever; it reveals some dilated bronchi and shows the heart situated on the right side of his
body. A congenital disorder is diagnosed. Which other finding would this patient be most likely
to have? (A) Defective chloride transport
(B) Elevated blood sugar
(C) Infertility
(D) Reactive airway disease
(E) Tetralogy of Fallot

Explanation: The correct answer is C. Kartagener’s syndrome, or immotile cilia, is caused by a

defect in dynein that prevents effective movement of cilia. The full syndrome is characterized
by sinusitis, bronchiectasis, situs inversus, and male infertility. Cilia play an important role in
moving mucus along the airway and clearing debris; the absence of this function contributes to
the pulmonary findings of the syndrome. Cilia are also very important for leukocyte movement
and phagocytosis. Infertility is present in most patients due to immotile cilia.

92. A 48-year old male was diagnosed with familial hypercholestremia, an autosomal dominant
condition that results in high circulating levels of LDL and cholesterol. One treatment for this
condition is a class of drug known as statins. Which of the following is true about this drug?
(A) Non-competitive reversible inhibition of HMG-CoA reductase
(B) Reversible competitive inhibition of HMG-Coa reductase
(C) Irreversible competitive inhibition of HMG-Coa reductase
(D) Irreversible non-competitive inhibition of HMG-Coa reductase
(E) Functions via the same mechanism of action as allopurinol

93. Which of the following stains is most likely used to identify the fibers at the
pointers?

(A) Sudan black

(B) Silver nitrate
(C) Hematoxylin
(D) 50 Shades of Grey
(E) Trichrome
94. At approximately 2.3 Mb and with 79 exons, the dystrophin gene is the largest gene in the
human genome. A diseased boy has a mutation in dystrophin which leads to the loss of exons 3,
4, and 5. After splicing, the resulting transcript is no longer in frame. In the figures, C indicates
“control”, and P indicates “patient”. Which of the following data sets would most likely be
characteristic of the mutation found in this boy?

(A) A
(B) B
(C) C
(D) D

95. A 24-year old woman presents to her physician with a lump in her right forearm. The slide
prepared from the biopsy from this lesion is shown below. The clear space that has pushed the
cytoplasm and nucleus to the periphery of these cells is best described by which of the
following terms.

(A) Endosome
(B) Granule
(C) Inclusion
(D) Vacuole
(E) Vesicle
96. Which of the following antibiotics would be detrimental to humans because it inhibits
peptidyl transferase activity in these cells?
(A) Cycloheximide
(B) Streptomycin
(C) Erythromycin
(D) Chloramphenicol
(E) Alpha-amanitin
(F) Rifampin
(G) Arachidonic acid

97. If the Vm is -80mV, which ion has the greatest DF?

(A) Ca
(B) K
(C) Na
(D) Cl

98. In 1912, a group of exploring geneticists discovered a family from a remote

tribe in Africa whose members had a type of ectrodactly called split-hand/foot
deformity (SHFM). Two members had split feet, 3 had split hands, and 6 had a little bit
of both. This family lineage is still passing on this trait today, and DNA sequencing
of the TP63 gene of affected individuals revealed that they all have the same point
mutation in exon 10. This is an example of:
(A) Variable Expressivity
(B) Genetic heterogeneity
(C) Reduced penetrance
(D) Allelic heterogeneity
(E) A mutation hot spot

99. Of the following conditions, which would most likely be depicted in the
pedigree shown below?

(A) OTC
(B) FH
(C) PKU
(D) Lesch-Nyhan
(E) BMD

100. A fibroblast cell line was mutated using CRISPR technology. DNA sequence analysis
confirmed that the sequence TATAAA at position -25 of the fibrin gene was changed to TATTTC.
Which of the following will most likely occur as a result of this genetic mutation?
(A) mRNA will not be translated into protein
(B) mRNA will not be transcribed
(C) The protein will be normal
(D) The DNA will not be replicated
(E) There will be abnormal splicing

101. An individual affected with NF1 exhibits the following clinical symptoms: cafe
au lait spots, neurofimbromas, Lisch nodules, optic nerve gliomas and
pseudoarthrosis. These manifestations most closely represent an example of which
of the following?
(A) Imprinting
(B) Multifactorial
(C) Pleiotropism
(D) Allelic Heterogeneity
(E) Anticipation

102. A 10-year old boy presents to the ED in respiratory distress after playing outside with his
sibling. Wheezing can be heart bilaterally. Asthma is suspected and a drug is given that will
decrease the amount of intracellular calcium released by the endoplasmic reticulum. What is
the likely property of this drug?
(A) Gs stimulator
(B) Gs inhibitor
(C) Gq stimulator
(D) Gq inhibitor
(E) Gi stimulator
(F) Gi inhibitor

103. An artificial cell with a volume of 1 liter contains 300 mOsm of non-penetrating solutes.
The cell is then bathed in 1 liter of a solution that contains 150 mOsm of NaCl (reflection
coefficient = 1) and 140 mOsm of glucose (reflection coefficient = 0). What happens to the
concentration of the solutes in the bathing solution?
(A) NaCl concentration does not change, glucose concentration does not change
(B) NaCl equilibrates across the membrane, glucose equilibrates across the membrane
(C) NaCl equilibrates across the membrane, glucose falls
(D) NaCl equilibrates across the membrane, glucose concentration does not change
(E) NaCl concentration does not change, glucose concentration falls