Final answer:
The correct answer is a) Missense; Nonsense, with R117H being the missense mutation affecting CFTR function and G542X being the nonsense mutation that prevents the protein from being functional at the plasma membrane.
Step-by-step explanation:
R117H is a missense mutation in the CFTR gene that causes a decrease in CFTR function by changing an amino acid in the protein, which can affect the protein's stability or function. On the other hand, G542X is a nonsense mutation in the CFTR gene that introduces a premature stop codon, leading to a truncated and likely non-functional protein. This mutation prevents the CFTR protein from reaching the plasma membrane, likely resulting in misfolding and subsequent degradation by the lysosome. Therefore, the correct answer to the question is: a) Missense; Nonsense.
Cystic fibrosis (CF) is an autosomal recessive disorder, which means that an individual must inherit two copies of the faulty gene to exhibit symptoms of the disease; carriers have only one copy of the mutated gene and do not display symptoms.
The R117H mutation in the CFTR gene is a missense mutation that causes a decrease in CFTR function. This means that the mutation results in the substitution of one amino acid with another in the CFTR protein, leading to a protein that does not function as effectively as the normal CFTR protein.
The G542X mutation, on the other hand, is a nonsense mutation that prevents the CFTR protein from reaching the plasma membrane. This mutation introduces a premature stop codon in the CFTR gene, resulting in the production of a truncated and non-functional protein that is likely misfolded and sent to the lysosome for degradation.
Based on this information, the correct answer is: a) Missense; Nonsense.