Homework Help is Here – Start Your Trial Now!
Science
Biology
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)
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
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
See similar textbooks
icon
Related questions
Topic Video
Question

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).

 

  1. Nonsense mutation in a coding region

 

  1. Insertion in Exon 1, causing frameshift

 

  1. Insertion in Exon 7, causing frameshift

 

  1. Missense mutation

 

  1. Deletion in Exon 2, causing frameshift

 

  1. Deletion in Exon 2, in frame

 

(g) Large deletion covering Exons 2 and 3

 

 

Expert Solution
trending now

Trending now

This is a popular solution!

steps

Step by step

Solved in 3 steps

SEE SOLUTIONCheck out a sample Q&A here
Blurred answer
Follow-up Questions
Read through expert solutions to related follow-up questions below.
Follow-up Question

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

 

Solution
Bartleby Expert
SEE SOLUTION
Knowledge Booster
Mitochondrial mutations
Learn more about
Need a deep-dive on the concept behind this application? Look no further. Learn more about this topic, biology and related others by exploring similar questions and additional content below.
Similar questions
Recommended textbooks for you
Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
Biology
ISBN:
9780134580999
Author:
Elaine N. Marieb, Katja N. Hoehn
Publisher:
PEARSON
Biology 2e
Biology 2e
Biology
ISBN:
9781947172517
Author:
Matthew Douglas, Jung Choi, Mary Ann Clark
Publisher:
OpenStax
Anatomy & Physiology
Anatomy & Physiology
Biology
ISBN:
9781259398629
Author:
McKinley, Michael P., O'loughlin, Valerie Dean, Bidle, Theresa Stouter
Publisher:
Mcgraw Hill Education,
Molecular Biology of the Cell (Sixth Edition)
Molecular Biology of the Cell (Sixth Edition)
Biology
ISBN:
9780815344322
Author:
Bruce Alberts, Alexander D. Johnson, Julian Lewis, David Morgan, Martin Raff, Keith Roberts, Peter Walter
Publisher:
W. W. Norton & Company
Laboratory Manual For Human Anatomy & Physiology
Laboratory Manual For Human Anatomy & Physiology
Biology
ISBN:
9781260159363
Author:
Martin, Terry R., Prentice-craver, Cynthia
Publisher:
McGraw-Hill Publishing Co.
Inquiry Into Life (16th Edition)
Inquiry Into Life (16th Edition)
Biology
ISBN:
9781260231700
Author:
Sylvia S. Mader, Michael Windelspecht
Publisher:
McGraw Hill Education
SEE MORE TEXTBOOKS