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). Nonsense mutation in a coding region Insertion in Exon 1, causing frameshift Insertion in Exon 7, causing frameshift Missense mutation Deletion in Exon 2, causing frameshift Deletion in Exon 2, in frame (g) Large deletion covering Exons 2 and 3
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). Nonsense mutation in a coding region Insertion in Exon 1, causing frameshift Insertion in Exon 7, causing frameshift Missense mutation Deletion in Exon 2, causing frameshift Deletion in Exon 2, in frame (g) Large deletion covering Exons 2 and 3
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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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).
- Nonsense mutation in a coding region
- Insertion in Exon 1, causing frameshift
- Insertion in Exon 7, causing frameshift
- Missense mutation
- Deletion in Exon 2, causing frameshift
- Deletion in Exon 2, in frame
(g) Large deletion covering Exons 2 and 3
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please answer remainnig questions too thanks.
1) Missense mutation
1)Deletion in Exon2, causing frameshift
1)Deletion in Exon 2, in frame
g) large deletion covering Exons 2 and 3
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