Free Online USMLE Step 1 Questions and Answers 5

4. A 69-year-old woman with Alzheimer disease is brought to the emergency department after getting lost while taking a walk in her neighborhood. Her son has been unable to contact the patient for the last 2 days, and today the police found her wandering in a park. The patient says that she drank water from a park fountain but has not had anything to eat for over 24 hours. On physical examination, she is mildly confused with dry mucous membranes. Laboratory studies show a blood glucose level of 92 mg/dl. Which of the following hormones binds to an intracellular receptor to help maintain this patient’s laboratory findings within the normal range?

A. Cortisol
B. Epinephrine
C. Glucagon
D. Growth hormone
E. Insulin
F. Norepinephrine

Correct Answer: A

Answer Explanation:

(Choices B, C, and F) Catecholamines (eg, epinephrine, norepinephrine) and glucagon attenuate hypoglycemia. However, they exert their metabolic effects via extraceffular, transmembrane, G protein-coupled receptors that activate adenyl cyclase and increase cyclic AMP production.
(Choice D) Growth hormone acts via an extracellular, transmembrane receptor that activates a JAK-STAT pathway. Growth hormone antagonizes insulin action, increases gluconeogenesis, and promotes lipolysis (provides gluconeogenic substrates).
(Choice E) In addition to the production of counterregulatory hormones, the inhibition of insulin release from pancreatic beta cells plays a primary role in preventing hypoglycemia during fasting. However, insulin acts on an extrace/lu/artransmembrane receptor with intrinsic tyrosine kinase activity.

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5. A 34-year-old woman with a history of recurrent urinary tract infections comes to the physician with dysuria and increased urinary frequency. Her urine culture grows colonies of Gram-negative bacteria. The bacteria are isolated and placed in a growth-enhancing nutrient solution, where they undergo rapid cellular division. As they are actively dividing, the bacterial cells are lysed and their DNA is extracted and purified. Analysis of the partially replicated DNA fragments shows the presence of uracil. This finding is most likely mediated by which of the following enzymes?

A. DNA ligase
B. DNA polymerase I
C. DNA polymerase Ill
D. Gyrase
E. Helicase
F. Primase

Correct Answer: F

Answer Explanation:

(Choice A) DNA ligase is the enzyme that repairs single-strand breaks in duplex DNA during DNA replication and repair.
(Choices B and C) During replication, DNA polymerase Ill is the primary enzyme responsible for synthesis of daughter DNA strands; DNA polymerase I functions chiefly to replace the RNA primers with DNA segments. Unlike DNA polymerase Ill, DNA polymerase I has 5’→3′ exonuclease activity that can remove RNA primers and damaged DNA segments. The 3’→ 5′ exonuclease activity of DNA polymerase I and Ill provides a proofreading function that fixes mismatched nucleotides in the newly formed daughter strands.
(Choices D and E) Helicase unwinds DNA at the replication fork. However, this process results in supercoiling of the DNA. DNA gyrase is a type II topoisomerase that helps to relieve the resultant strain.

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6. A 10-year-old boy is brought to the emergency department for new swelling in his right leg. He has a history of lens dislocation and intellectual disability. Physical examination demonstrates moderate, pitting edema from his right calf to his right thigh and a normal left lower extremity. In addition, the patient has a caved-in appearing chest wall. He has no family members with similar conditions. Ultrasound reveals a deep venous thrombosis in his right femoral vein. Further genetic testing reveals a single missense mutation in the gene coding for cystathionine betasynthase enzyme. Which of the following is the most likely explanation for this patient’s genetic defect affecting multiple tissues?

A. Dominant negative mutation
B. Genetic linkage
C. Incomplete penetrance
D. Locus heterogeneity
E. Pleiotropy
F. Polyploidy
G. Segregation

Correct Answer: E

Answer Explanation:

(Choice A) Dominant negative mutations occur when an abnormal gene negatively affects the product of the wildtype gene in the same cell. For example, certain oncogene p53 mutations can lead to translation of a protein product that prevents wild-type p53 from binding to the promoter of its target genes.
(Choice B) Genetic linkage describes the tendency of alleles located near one another on the same chromosome to be inherited jointly.
(Choice C) Penetrance refers to the proportion of individuals with a given genotype that express the associated phenotype. In incomplete penetrance, less than 100% of individuals with a given genotype express its associated phenotype.
(Choice D) Locus heterogeneity refers to the ability of one disease or trait to be caused by mutations in multiple different genes. An example is familial hypercholesteremia, which can be caused by different mutations affecting cholesterol metabolism genes (eg, LDL receptor, apo B-100).
(Choice F) Polyploidy occurs when more than 2 complete sets of homologous chromosomes exist within an organism or cell . In a partial hydatidiform mole, for example, there are cells of nonstandard ploidy (typically 69,XXX; 69,XXY; or 69,XYY). The chromosomes in this case are derived from 1 haploid maternal set and 2 haploid paternal sets of chromosomes.
(Choice G) The law of segregation (Mendel’s first law) describes the phenomenon whereby gametogenesis within the parent organism results in the separation of paired alleles so that each offspring inherits only half of each parent’s genetic composition.

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