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). Determine the effect of each mutation on the length of the protein below: 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 deletions of Exon 2 and 3 Sort the mutations into the appropriate: A.short protein, B.longer protein, C.same size protein D.cannot be determined

Explanation / Answer

The correct answer is:

Shorter Protein: Nonsense mutation, Deletions of Exons 2 and 3, and Deletion in Exon 2

in frame Longer Protein: None

Same Length: Missense mutation

Cannot determine: Insertion in exon 7 (frameshift), Deletion in exon 2 (frameshift), Insertion in exon 1 (frameshift)

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