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 7, causing frameshift

Accepted Answer

Hi everyone. Welcome back. Here's our next question. It says the E. G. F. R. Gene AIDS in maintaining healthy cell growth and spread. Which the following is a consequence of the exon 20 insertion mutation in this gene. Well if we don't recall off the top of our head what the consequence of this mutation is? We can actually make a pretty good guess. Looking at our answer choices. We have a lung cancer beam, our fans syndrome, deceit Shane, muscular dystrophy and D sickle cell anemia. But we know that this gene is important in maintaining healthy cell growth and spread. So if you think of something disrupting a gene that controls growth and spread, that's a pretty good pointer that our answer here is gonna be choice a lung cancer since cancer is caused when cells begin to grow and spread without controls. And indeed that is the correct answer. When we look at our other answer choices. Choice B is Marfan syndrome and it is a connective tissue disorder that's caused by a mutation of the gene for the febrile in one protein. So not the consequence of the insertion mutation and the E. D. F. R. Gene. So let's cross that out. Our next choices see Duchenne muscular dystrophy. And this is caused by a mutation in the gene on the X chromosome for the dystrophin protein and it causes a degenerative muscular the degenerative muscular disease. But not our answer here. So we cross that off and then finally sickle cell anemia. Pretty well known uh disease in which there's a mutation in the gene for the protein hemoglobin which causes red blood cells and affected individuals to adopt this sickle shape, causing painful crises when those blood blood cells get stuck in the blood vessels. So again, talking about the e g f. R. Gene, which of the following is a consequence of the exon 20 insertion mutation in this gene choice, a lung cancer. See you in the next video.

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