Free Online USMLE Step 1 Questions and Answers 8

10. A 34-year-old woman comes to the office due to dysuria. The patient has a history of recurrent urinary tract infections. A urine sample is collected and sent for culture. Gram-negative bacteria isolated from the urine are found to form pink colonies on lactose-containing MacConkey agar. Several days later, bacterial isolates from a second urine sample are found to form white colonies when plated on the same type of medium. Genetic analysis shows that the more recent isolates have a single nucleotide deletion within the lac operon DNA sequence. This genomic change is most consistent with which of the following?

A. Conservative mutation
B. Frameshift mutation
C. Missense mutation
D. Nonsense mutation
E. Silent mutation

Correct Answer: B

Answer Explanation:

(Choices A and C) Missense mutations are single base substitutions that result in the placement of an incorrect amino acid in a protein sequence. These mutations occur within the coding region of a gene and do not alter protein length. A conservative mutation is a type of missense mutation where an amino acid is replaced with another that has similar biochemical characteristics. Conservative mutations generally preserve protein function unless the mutation occurs in a critical region (eg, active site of enzyme).
(Choice D) Nonsense mutations introduce a premature stop codon in a coding region, resulting in the production of a truncated protein. The mutation described is not a nonsense mutation because it was caused by a single base deletion (not a base substitution).
(Choice E) A silent mutation is a single base substitution within a codon that does not change the amino acid (due to codon redundancy). Silent mutations have no effect on protein formation or function.

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