Mutations in the CFTR gene result in cystic fibrosis in ...

Question

Mutations in the CFTR gene result in cystic fibrosis in humans, a condition in which abnormal secretions are present in the lungs, pancreas, and sweat glands. The gene was mapped to a 500-kb region on chromosome 7 containing three candidate genes.

Using your knowledge of the disease symptoms, how would you distinguish between the candidate genes to decide which is most likely to encode the CFTR gene?

Accepted Answer

Hey, everyone. Let's take a look at this question together. This is a type of point mutation that happens when a single nucleotide change in the DNA sequence doesn't lead to a change in the amino acid sequence of the protein that is generated. Is it answer choice? A frameshift mutation? Answer choice B missense mutation, answer choice C silent mutation or answer choice D lethal mutation. Let's work this problem out together to try to figure out what type of point mutation involves a single nucleotide change that doesn't lead to a change in the sequence of the protein. So we are looking for a type of point mutation in which that mutation doesn't lead to a change in the amino acid sequence of the protein, meaning that our point mutation results in no change. So that mutation is silent. And we note that a point mutation that is silent is a silent mutation which is answer choice C, the correct answer since a silent mutation describes that point mutation in which a single nucleotide change in the DNA sequence does not lead to a change in the amino acid sequence of the protein. So answer choice C is the correct answer. I hope you found this video to be helpful. Thank you and goodbye.

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