Free Online USMLE Step 1 Questions and Answers 6

10. A 5-year-old boy is being evaluated for progressive muscle weakness that has resulted in numerous recent falls. There is no family history of muscle disorders. Physical examination reveals bilateral calf enlargement. When the patient is asked to stand, he uses his hands and arms to help push himself to an upright position. Serum creatine kinase is 12,600 U/L (normal: 30-1 70 U/L). Molecular tests reveal a large muscle protein that is defective due to the loss of 508 amino acid residues. Genetic analysis reveals a single base substitution within exon 48 of the gene encoding this muscle protein. This patient’s gene mutation has most likely resulted in which of the following mRNA codon changes?

A. CUU → AUU
B. UAA → UAG
C. UAC → CAC
D. UCA → UGA
E. UUU → UUC

Correct Answer: D

Answer Explanation:

(Choices A and C) Changing CUU (leucine) to AUU (isoleucine) or UAC (tyrosine) to CAC (histidine) would result in an amino acid substitution at one position (missense mutation). The function of this protein may be altered depending on a variety of factors, but the ultimate size of the protein will remain the same. Missense mutations that result in the substitution of a new amino acid with similar chemical properties are called conservative mutations.
(Choice B) Changing UAA to UAG would not affect protein structure or function because both of these sequences are stop codons. Stop codons are normally located at the end of the translated region of mRNA.
(Choice E) Changing UUU to UUC would not affect the protein as both sequences code for phenylalanine. Point mutations that do not change the amino acid sequence of a protein are called silent mutations.

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