Mutations in the IL2RG gene cause approximately 30 percent of severe combined im

Question

Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases. 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, determine its likely influence on the IL2RG gene product (assume its length to be 375 amino acids).

Which mutation(s) will result in a significant portion of the protein having different amino acids?

nonsense mutation insertion in Exon 1, frameshift insertion in Exon 7, frameshift missense mutation deletion in Exon 2, frameshift deletion in Exon 2, in frame deletion of Exons 2 and 3

Explanation / Answer

Correct answers would be:

Reason: All the above options and mutations would result in alteration of the aminoacids in a protein.

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