Answered: Mutations in the IL2RG gene cause…

Name: can you please help me out with this ?Mutations in the IL2RG gene caus
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Description: can you please help me out with this ?Mutations in the IL2RG gene cause approximately 30 percent ofsevere combined immunodeficiency disorder (SCID) cases inhumans. These mutations result in alterations to a protein componentof cytokine receptors that

Biology Today and Tomorrow without Physiology (MindTap Course List)

5th Edition

ISBN:9781305117396

Author:Cecie Starr, Christine Evers, Lisa Starr

Publisher:Cecie Starr, Christine Evers, Lisa Starr

Chapter10: Biotechnology

Section: Chapter Questions

Problem 4DID

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can you please help me out with this ?

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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