Free Online USMLE Step 1 Questions and Answers 6

7. A healthy couple, who recently emigrated from Eastern Europe, brings their 3-year-old son to the office for evaluation of an eczematous rash. On examination, the child also shows signs of intellectual disability and gait abnormality and has a musty body odor. Which of the following is the likelihood that this couple’s next child will be affected with the same disease?

A. Same as the general population
B. 1/32
C. 1/16
D. 1/8
E. 1/4
F. 1/2

Correct Answer: E

Answer Explanation:

The probability that a child will inherit a mutant allele from each carrier parent is equal to p1 x p2 =1/4 because these are independent events (Choices A, B, and D).
(Choice C) The probability of having two future children both inherit an autosomal recessive disease from parents who are heterozygous carriers is 1/4 x 1/4 = 1/16 (each 1/4 representing the likelihood of 1 child inheriting the disease). In this case, this family already has an affected child, making the probability of a single subsequent child with the disease remain at 1/4.
(Choice F) The probability that a child will inherit an autosomal dominant disorder if one parent is affected is 1/2.

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8. A genetic researcher is comparing the DNA replication process of prokaryotic and eukaryotic cells. In an experiment, Escherichia coli and human cells are cultured in separate media containing tagged nucleotides and their rates of DNA replication are determined. Although the eukaryotic genome is significantly larger and more complex than that of the prokaryote, eukaryotic DNA replication still occurs in a tjmely manner. Which of the following features of eukaryotic replication best explains this observation?

A. Continuous synthesis of the lagging strand
B. Energy-independent DNA unwinding
C. Multiple origins of replication
D. No proofreading of daughter strands
E. No requirement for RNA primers

Correct Answer: C

Answer Explanation:

(Choice A) Eukaryotic and prokaryotic DNA polymerases synthesize daughter strand DNA in the 5′ to 3′ direction. The leading strand is formed continuously, whereas the lagging strand is formed discontinuously, creating Okazaki fragments.
(Choice B) DNA unwinding is an energy-dependent process performed by the enzyme helicase in both prokaryotes and eukaryotes.
(Choice D) Proofreading of daughter strands during DNA replication is necessary to preserve the genetic code and prevent potentially lethal mutations. All 3 prokaryotic DNA polymerases and most eukaryotic DNA polymerases (eg, y, o, E) possess 3′ to 5′ exonuclease (“proofreading”) activity.
(Choice E) Prokaryotic and eukaryotic DNA polymerases require an RNA primer before they can initiate synthesis of complementary DNA on a single-stranded template. Primase (prokaryotes) and DNA polymerase a (eukaryotes) are the enzymes responsible for synthesizing this primer.

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9. An 8-month-old boy is evaluated for developmental delay, failure to thrive, and episodic seizures. Physical examination shows ophthalmoplegia and hypotonia. laboratory studies reveal an elevated serum lactate level. Further histochemical studies show severely reduced pyruvate dehydrogenase enzyme activity in both freshly isolated peripheral blood lymphocytes and cultured fibroblasts. Increasing which of the following substances in his diet is most likely to help this patient generate energy without further elevating lactate levels?

A. Alanine
B. Asparagine
C. Galactose
D. Glycerol
E. Lysine
F. Serine

Correct Answer: E

Answer Explanation:

(Choices A and F) The non-essential glucogenic amino acids alanine and serine can be converted to pyruvate through a transamination reaction catalyzed by alanine transaminase and a deamination reaction catalyzed by serine dehydratase, respectively.
(Choice B) Asparagine is catabolized to aspartate and subsequently transaminated to produce glutamate and oxaloacetate, an intermediate of the TCA cycle. Oxaloacetate by itself cannot be used to produce energy; it must first undergo condensation with acetyl-CoA to form citrate.
(Choice C) The monosaccharide galactose is metabolized in the glycolytic pathway; dietary intake will result in elevated levels of lactate in patients with pyruvate dehydrogenase deficiency.
(Choice D) Glycerol is metabolized to glyceraldehyde 3-phosphate, a glycolysis intermediate. It can be used as a substrate to form pyruvate and, subsequently, lactate.

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