An 18-month-old male is admitted to the hospital with symptoms of a respiratory infection. The patient's mother reports that since birth, the toddler has frequently had a cough and copious nasal secretions. His weight gain has been poor, despite his excellent appetite. The patient appears in moderate respiratory distress, so oxygen therapy and intravenous fluids are initiated. The physician orders tests for cystic fibrosis due to the patient's history and clinical presentation. When the tests confirm the diagnosis, as the RN, you provide education to the mother regarding this autosomal recessive disease.
-The RN is aware that many different types of mutations have been identified in the gene that causes cystic fibrosis.Which of the following terms would best describe a mutation that leads to the deletion of two bases from a DNA sequence?

Question

Quizplus · Accepted Answer

A deletion of two bases will cause a frameshift mutation, resulting in a change in the reading frame of the genetic code. This can alter the amino acid sequence of the resulting protein, leading to a dysfunctional protein in the case of cystic fibrosis. Back mutation is when a mutation that had previously occurred is reversed, silent mutation is when a mutation does not affect the amino acid sequence, and point mutation is when a single base is substituted in the DNA sequence.

An 18-Month-Old Male Is Admitted to the Hospital with Symptoms