Mutations in the IL2RG gene cause approximately 30 perce...

Question

Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases in humans. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, explain its likely influence on the IL2RG gene product (assume its length to be 375 amino acids).

Insertion in Exon 1, causing frameshift

Accepted Answer

Welcome back. Here's our next question, mutations that are caused by insertion generally trigger large scale changes to the proteins which of the following inserted nucleotide numbers have the least adverse impact on the phenotype. Well, when we think through why mutations caused by insertion generally trigger large scale changes, we think about the fact that our code owns Are made of three bases. Of course. So if we insert or on the other hand, delete bases, we run the risk of changing all of the code ons downstream from the insertion or deletion. However, if we compare the different nucleotide numbers, If we have a multiple of three and insert something to shift everything over by multiple of three, you will change the base pairs where you made the insertion but you're not going to cause a frame shift mutation where you'd affect everything downstream. So given that our answer here is choice A. three. Since that will not cause a frame shift and we can eliminate choice B one, Choice C. Two and Choice D. Four. Since none of them are multiples of three, they all have the risk of causing a frame shift mutation. So again, which of the following inserted nucleotide numbers have the least adverse impact on the phenotype choice A three. See you in the next video

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