An individual has a metabolic disease that is traced to one nonfunctional enzyme.Protein analysis reveals that the protein is larger than normal and fails to assemble into the proper tertiary structure.Analysis of the gene sequence will most likely reveal that the mutation
A) disrupts the signal sequence.
B) disrupts the initiation site.
C) disrupts a splice site.
D) is within an intron.
E) is silent.

Question

Quizplus · Accepted Answer

A mutation that disrupts a splice site can result in an abnormal or incomplete mRNA transcript, leading to a nonfunctional protein. In this case, the protein is larger than normal and fails to assemble into the proper tertiary structure, which suggests a problem with protein synthesis. A disruption in a splice site could cause the mRNA to have an improper reading frame, leading to incomplete or incorrect protein synthesis. Therefore, option C is the best choice. The other options do not explain how the mutation could cause a problem with protein synthesis and tertiary structure.

An Individual Has a Metabolic Disease That Is Traced to One