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).

Deletion in Exon 2, in frame

Accepted Answer

Hi everyone, welcome back. Here's our next problem. It says the following conditions can be caused by deletion mutations except So let's think about what we know conditions caused by deletion mutations. And look at our answer choices. We have a di George syndrome. B. Wolf Hirschhorn syndrome. See Angelman syndrome and D. Down syndrome. Well, the one that hopefully jumps out here is not caused by a deletion mutation. Is Choice D. Down syndrome. Down syndrome Is a trisomy caused by having three copies of chromosome 21. So trisomy 21 is what causes Down syndrome, not a deletion mutation. So let's look at our other answer choices. Which should all be deletion mutations. Indeed, we look at choice A. Di George syndrome and that is caused by Deletion of a portion of chromosome 22 which causes uh affects the development of several different body systems. Uh so choice a is not correct. Choice B is wolf Hirschhorn syndrome. And this also is a bleach caused by deletion mutation. A deletion of a portion of chromosome four, also like the George syndrome, causing an error and development of several different bodily systems. So, not our correct answer. And finally, Choice C. Engelman syndrome, another deletion mutation of a portion of chromosome in this case a portion of chromosome 15 and it causes developmental delays and nerve related symptoms. So choice C also not our answer. Since it's caused by deletion mutations. So again, the following conditions can be caused by deletion mutations with the exception of Choice D. Down syndrome. See you in the next video

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