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). Large deletion covering Exons 2 and 3

Hello, everyone here We have a question that says Jacobsen syndrome is a disorder caused by the deletion of a gene from the end of chromosome 11, Also known as the 11 Q arm. This type of deletion is referred to as blank. Deletion mutations towards the end of the chromosome are called terminal deletions. So in the case of Jacobsen syndrome, our answer is C terminal deletion. Thank you for watching. Bye!