1. A physician is asked to evaluate a 5-year-old girl who has developed a mass in her neck.

During
the interview, he learns that the mass appeared within the past few months and has been enlarging;
however, it causes no pain or discomfort. The mass is in the midline of the neck just inferior to the
hyoid bone. Laboratory tests reveal a triiodothyronine level of 150 ng/dL, a thyroxine level of 8.0
µg/dL, and a thyroid-stimulating hormone level of 1 µU/mL. A CT scan of the neck is performed and
the doctor recommends surgery. Which of the following is the most likely diagnosis?
(A) Branchial cleft cyst
(B) Dermoid cyst
(C) Ectopic thyroid gland
(D) Enlarged pyramidal lobe of the thyroid
(E) Lipoma
(F) Thyroglossal duct cyst

2. The x-ray shown in the image is from a child with a congenital condition. Which of the following is
the most common cause of death in infants with this condition?
(A) Cardiac tamponade
(B) Coarctation of the aorta
(C) Diaphragmatic eventration
(D) Mediastinal shift
(E) Pulmonary hipoplasia
3. A child has a unilateral notch of the upper lip (see image). What is the most likely etiology of this
lip malformation?
(A) Abnormal fusion of the maxillary and medial nasal processes
(B) Altered development of the third and fourth branchial pouches
(C) Flaws in the mandibular and maxillary bones
(D) Incomplete development of the third pharyngeal arch

4. Spermatogenesis, the process of forming spermatozoa, occurs in the seminiferous tubules of the
testes. As the cells proceed through the different stages of spermatogenesis, they contain varying
numbers of chromosomes and varying amounts of DNA. A laboratory investigator is observing, under
the microscope, cells undergoing this process. He has focused on a group of cells that recently gained
an acrosome and tail. Which of the following best describes the amount of DNA and the number of
chromosomes that exist in those cells?
(A) 23, 1n
(B) 23, 2n
(C) 46, 1n
(D) 46, 2n
(E) 46, 4n

5. Ensuring adequate maternal intake of a specifc nutrient is especially important in reducing the
incidence of the congenital anomaly shown in the image. A defciency of this nutrient, when present
in an adult, is associated with which of the following conditions?
(A) Confabulation and anterograde amnesia
(B) Diarrhea, dermatitis, and dementia
(C) Megaloblastic anemia
(D) Megaloblastic anemia with neurologic symptoms
(E) Microcytic anemia
6. A 2-year-old Scottish-American girl presents with deeply pigmented and scarred skin and her
growth is delayed. Her dermatologist obtains a skin biopsy, suspecting the xeroderma pigmentosum
group of diseases (MIM*278730); these have decreased ability to repair thymine-thymine dimers in
DNA that are caused by ultraviolet light (sunlight exposure). Which of the following strategies would
best measure unscheduled DNA synthesis (DNA repair) in the patient’s skin fibroblasts?
(A) Cell synchrony, then incubation with labeled iodine in G phase to complex with newly created
hydroxyl groups in deoxyribose residues
(B) Incubation with labeled purines to replace newly synthesized bases on the outside of the DNA
duplex
(C) Cell synchrony, then incubation with labeled deoxyribonucleotides in G phase to measure
extension of single DNA strands in the 3’ to 5’ direction
(D) Incubation with labeled deoxyribonucleotide triphosphates to measure extension of both strands
in the 5’ to 3’ direction
(E) Incubation with labeled deoxyribonucleotide triphosphates to measure extension of both strands
in the 3’ to 5’ direction

7. It is well known that DNA polymerases synthesize DNA only in the 5’ to 3’ direction. Yet, at the
replication fork, both strands of parental DNA are being replicated with the synthesis of new DNA. An
experiment examines incorporation of radio-labeled nucleotide triphosphates in unsynchronized cells
and finds a small amount of incorporated label in DNA fragments of small size. Which of the following
statements explains why the experiment is compatible with new DNA from both strands being added
in the 5’ to 3’ direction?
(A) A different DNA polymerase replicates the complementary DNA strand as a series of small
fragments.
(B) A 3’ to 5’ DNA polymerase is active in cells with high rates of DNA replication.
(C) DNA synthesis on complementary strand produces small 5’ to 3’ fragments that are continuously
ligated together.
(D) DNA replication switch strands every 100 nucleotides, a detail not resolved by microscopy.
(E) DNA synthesis on the complementary strand does not use RNA p
8. A 20-year-old African-American male consults a physician because his father and a paternal aunt
developed colon cancer in their mid-20s. Neither relative had multiple colonic polyps, so a diagnosis
of hereditary nonpolyposis colon cancer (HNPCC-MIM*114500) is considered. The man’s physician
discusses testing for HNPCC, knowing that affected patients have genes with microsatellite instability,
many gene regions containing abnormal, small loops of unpaired DNA. These DNA loops are the
result of a mutation affecting which of the following?
(A) Mismatch repair
(B) Chain-break repair
(C) Base excision repair
(D)Depurination repair
(E) Nucleotide excision repair

9. A 9-month-old Italian American boy presents with tachypnea and respiratory distress. His physical
examination reveals a large spleen and his blood counts reveal severe anemia with targeted red
blood cells on smear. A diagnosis of β-thalassemia (MIM*141900) is suggested and analysis of gene
structure and expression is begun. As shown in the diagram above Questions 241 to 248, the β -
globin gene contains three exons that encode a protein of 150 amino acids, separated by introns of
150 and 750 bp. The β -globin messenger RNA (mRNA) has 5’- and 3’-untranslated regions of 50
nucleotides. Choose the size of the mature β-globin messenger RNA and its amount in this boy with
β -thalassemia:
(A) 1450 bp-normal amount of mRNA
(B) 700 bp-decreased amount of mRNA
(C) 550 bp-decreased amount of mRNA
(D) 500 bp-increased amount of mRNA
(E) 450 bp-decreased amount of mRNA
10. A couple request genetic counseling because their first child had severe β-thalassemia
(MIM*141900) and expired at age 1 year from graftversus-host reaction after bone marrow transplant.
DNA analysis of the child demonstrated a promoter mutation on one copy of the β-globin gene and a
mutation in the middle of exon 2 on the other copy. What is the most likely type of mutation in exon 2
that would lead to β-thalassemia (ie, decreased production of β-globin peptide from both β-globin
gene copies), and what is the couple’s recurrence risk for their next child to be affected?
(A) Deletion of 3 bp, 50%
(B) Insertion of 1 bp, 25%
(C) Insertion of 3 bp, 25%
(D) Missense mutation, 25%
(E) Silent mutation, virtually zero recurrence risk

11. How many high-energy phosphate-bond equivalents are utilized in the process of activation of
amino acids for protein synthesis?
(A) Zero
(B) One
(C) Two
(D) Three
(E) Four

12. The sequence of the template DNA strand is 5′-GATATCCATTAGTGAC-3′. What is the sequence
of the RNA produced?
(A) 5’-CAGUGAUUACCUAUAG-3’
(B) 5’-CTATAGGTAATCACTG-3’
(C) 5’-CUAUAGGUAAUCACUG-3’
(D) 5’-GTCACTAATGGATATC-3’
(E) 5’-GUCACUAAUGGAUAUC-3’

13. Ribosomes similar to those of bacteria are found in which of the following?
(A)Cardiac muscle cytoplasm
(B)Liver endoplasmic reticulum
(C)Neuronal cytoplasm
(D)Pancreatic mitocondria
(E) Plant nuclei

14. Which of the following eukaryotic promoter/regulatory elements has the most variable position with
respect to the start site of transcription?
(A) Downstream promoter element (DPE)
(B) Enhancer
(C) Initiator sequence
(D) Operator
(E) TATA box

15. Gyrate atrophy (MIM*258870) is a rare autosomal recessive genetic disorder caused by a +
deficiency of ornithine aminotransferase. Affected individuals experience progressive chorioretinal
degeneration with visión and neurologic defects. The gene for ornithine aminotransferase has been
cloned, its structure has been determined, and mutations in affected individuals have been
extensively studied. Which of the following mutations best fits with test results showing normal
Southern blots with probes from all ornithine aminotransferase exons but absent enzymatic activity?
(A) Duplication of entire gene
(B) Two-kb deletion in coding region of gene
(C) Two-kb insertion in coding region of gene
(D) Deletion of entire gene
(E) Missense mutation

16. A metabolic process is pictured below. Which intermediate in this process inhibits the ratelimiting
enzyme of glycolysis and activates the rate-limiting enzyme of fatty acid synthesis?
(A) A
(B) B
(C) C
(D) D
(E) E

17. A 57-year-old woman visits her primary care physician. Laboratory studies reveal an LDL of 194
mg/dL and HDL of 41 mg/dL. Her physician begins therapy with a drug that inhibits production of
mevalonic acid. Which of the following is a common side effect of this therapy?
(A)Hepatomegaly without elevations in aspartate aminotransferase or alanine aminotransferase
(B)Muscle injury clinically similar to myositis
(C)Spontaneous abortion of a pregnancy
(D)Suicidality and homicidality in patients with bipolar disorder
(E)Tonic-clonic seizures

18. A 42-year-old woman presents to her physician with generalized itching. Physical examination
reveals scleral icterus. Laboratory tests show:
Total bilirubin: 2.7 mg/dL
Conjugated bilirubin: 2.4 mg/dL
Alkaline phosphatase: 253 U/L
Aspartate aminotransferase: 36 U/L
Alanine aminotransferase: 40 U/L
What is the most likely mechanism underlying
this patient’s jaundice?
(A) Absence of UDP-glucuronyl transferase
(B) Decreased levels of UDP-glucuronyl transferase
(C) Extravascular destruction of the patient’s RBCs
(D) Intrahepatic or extrahepatic biliary obstruction
(E) Intravascular destruction of the patient’s RBCs

19. A 30-year-old man is diagnosed with type I familial dyslipidemia. Recent laboratory studies show
an elevated triglyceride level but normal LDL and HDL cholesterol levels. Which of the following
explains the pathophysiology of this disease?
(A) Apolipoprotein E defciency
(B) LDL cholesterol receptor defciency
(C) Lipoprotein lipase defciency
(D) VLDL cholesterol clearance defciency
(E) VLDL cholesterol overproduction

20. A 6-year-old boy is brought to his pediatrician’s office by his parents, who report that the child has
been unusually thirsty for the past week. He also has increased urinary frequency and has wet the
bed three times in the past two weeks. A random blood glucose level is 215 mg/dL. The pediatrician
suspects that the child has type 1 diabetes mellitus caused by autoimmune destruction of insulin-
producing pancreatic β cells. Which of the following is the transporter for glucose to enter pancreatic
β cells?
(A) GLUT 1
(B) GLUT 2
(C) GLUT 4
(D) Simple diffusion

21. A 75-year old man with a 40-pack year history of smoking and hypercholeterolemia is diagnosed
with severe atherosclerosis. Atherosclerotic occlusion of which of the following arteries would result
in insufficient perfusión of the urinay bladder?
(A) External iliac
(B) Inferior epigastric
(C) Internal iliac
(D) Internal pudendal
(E) Lateral sacral

22. A 36-year-old woman is hospitlaized for tretament of a stomach ulcer that has been getting
progerssively worse over several months. Radiographic studies reveal the site of involvement to be
along the greater curvature, approximately 4cm away frome the pyloric sphincter. That nigth, the ulcer
perforates, and there considerable intra-abdominal bleeding. Surgery reveals that the ulcer has
eroded through the stomah wall and has damaged the artery supplying te involved region of the
stomach. Wich artery was likely involved?
(A) Left gastric
(B) Left gastroepiploic
(C) Rigth gastric
(D) Rigth gastrepiploic
(E) Short gastric

23. A woman who recentrly gave birth has elevated prolactin levels. The gland for secretion of this
hormone is derived from which of the following structures? }
(A) Cerebral vesicle
(B) Infundibulum
(C) Neurohypophysis
(D) Proctodeum
(E) Rathke’s pouch

24. A 54-year-old man has cirrosis, with obstruction of the portal circulation within the liver. Portal
blood could stoll be conveyed to the caval system voa which of the following?
(A) Azygos and hemiazygos veins
(B) Gonadal veins
(C) External iliac veins
(D) Splenic vein
(E) Vesical venous plexus

25. A 26-year-old man is stabbed in the left chest during a bar brawl. Several days after he is treated,
he returns to the physician complaining of decreased function in his left arm. Physical examination
reveals a winged left scapula and an inability to raise his left arm above the horizontal. Which of the
following nerves is most likely affected?
(A) Axillary
(B) Long thoracic
(C) Lower subscapular
(D) Suprascapular
(E) Thoracodosal

26. A couple comes to the physician for advice about contraception and family planning. The physician
provides advice about variosus methods of birth control. While discussing the option of using an
intrauterine device, a discussion of the process of implantation comes up. At what stage of embryonic
develpoment does an embryo normally begin to implant in the endometrium?
(A) Blastocyst
(B) Four-cell stage
(C) Morula
(D) Trilaminar embryo
(E) Zygote

27. Below is an artist’s rendition of the anatomy of the base of the brain. What is a major function
of the cranial nerve indicated by the arrow?
(A) Eye movement
(B) Facial movement
(C) Hearing
(D) Mastication
(E) Tongue movements
28. A 26-year-old man presents with left eye pain and intermittent double vision. When at rest,
his left eye is deviated downwards and laterally, as pictured in the image. Upward gaze and adduction
are limited in the affected eye; however, abduction appears intact. Also, the left lid droops, and the
left pupil is dilated and unresponsive to light. Which of the following cranial nerves is most likely to
have been injured?
(A) Abducens nerve
(B) Oculomotor nerve
(C) Optic nerve
(D) Trigeminal nerve
(E) Trochlear nerve

29. The femoral triangle is bounded superiorly by the inguinal ligament. Which f the following
structures form the lateral and medial borders of the femoral triangle?
(A)Adductor longus and gracilis
(B) Adductor longus and sartorium
(C) Gracilis and pectineus
(D) Gracilis and sartorious
(E) Pectineum and sartorious

30. During a routinephysical examnination, a 71-year-old man is found to have a 7cm pulsatile mass
deep in the abdomen, between the xiphoid and the umbilicus. He has a history of untreated
hypertension. The endothelial lining of the affected structure is composed of the following tissue
types?
(A) Pseudostratified epithelium
(B) Simple columnar epithelium
(C) Simple cuboidal epithelium
(D) Simple squamous epithelium
(E) Stratified squamous epithelium