Some children do not have any family history of retinoblastoma, but are born wit

Question

Some children do not have any family history of retinoblastoma, but are born with a pathogenic variant in one copy of RB1 in all of their cells. They go on to develop retinoblastoma when a secondary mutation occurs in the other copy of RB1 in an individual eye cell.

You are examining the sequence of the second copy of RB1 in a tumor. Which of the following point mutations would be most likely to lead to development of retinoblastoma?

1 a missense mutation that produces an overactive version of the protein incorrect

2 a nonsense mutation in the second exon

3 a promoter mutation leading to increased expression

4 a silent mutation in the fourth exon

Explanation / Answer

I believe the correct answer to be:

2) a nonsense mutation in the second exon

because this is the only mutation that will completely eleminate the chances of forming a functional protein as the protein formation would be stopped midway due to this mutation and since RB1 is a tumor supressor gene, for the retinobalstoma to occur, it has to be non functional.

Feel free to leave a comment down below for any further query. Good rating would be appretiated if you find my answer helpful. Thank you.

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