Part II-A New Dilemma Suzanne and David decided that Suzanne would take the diagnostic test. In preparing for a possible positive result, they increased the value of Suzanne's life insurance and purchased the best long-term care policy available. They also prayed together and promised each other that the test results would not change them, only prepare them for the future. The doctor swabbed the inside of Suzanne's cheek to obtain some cells. The DNA was extracted from these cells and tested for the gene. Suzanne's test came back positive-she had inherited the gene mutation APP from her father. When they got the news, Suzanne reacted with tearful stoicism, David with stunned silence. Suzanne and David now have a new dilemma. They have always wanted to have children, but understand that each of their children now has a 50% chance of inheriting the disease. In addition, it is likely that Suzanne will not be able to raise (or even recognize) her children as her disease progresses. This would have an impact on all of them-Suzanne, David, and any children they might have. Should they have children? Questions 1. What role is played by meiosis, oogenesis, and spermatogenesis in human reproduction? How is it possible that 50% of Suzanne's eggs will be carrying the mutated APP gene? 2. What is DNA? A gene? An allele? How do genes determine traits? 3. The APP gene codes for a particular protein. Why does a mutated APP gene lead to problems in the brain? What are the two other genes (and their resulting gene products-the proteins) that, when mutated, can lead to EOFAD? How does each protein play a role in brain function?
Part II-A New Dilemma Suzanne and David decided that Suzanne would take the diagnostic test. In preparing for a possible positive result, they increased the value of Suzanne's life insurance and purchased the best long-term care policy available. They also prayed together and promised each other that the test results would not change them, only prepare them for the future. The doctor swabbed the inside of Suzanne's cheek to obtain some cells. The DNA was extracted from these cells and tested for the gene. Suzanne's test came back positive-she had inherited the gene mutation APP from her father. When they got the news, Suzanne reacted with tearful stoicism, David with stunned silence. Suzanne and David now have a new dilemma. They have always wanted to have children, but understand that each of their children now has a 50% chance of inheriting the disease. In addition, it is likely that Suzanne will not be able to raise (or even recognize) her children as her disease progresses. This would have an impact on all of them-Suzanne, David, and any children they might have. Should they have children? Questions 1. What role is played by meiosis, oogenesis, and spermatogenesis in human reproduction? How is it possible that 50% of Suzanne's eggs will be carrying the mutated APP gene? 2. What is DNA? A gene? An allele? How do genes determine traits? 3. The APP gene codes for a particular protein. Why does a mutated APP gene lead to problems in the brain? What are the two other genes (and their resulting gene products-the proteins) that, when mutated, can lead to EOFAD? How does each protein play a role in brain function?
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,...
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Please help me answer questions 1 and 5 in part 2 of this case study,
Thank you
A copy of the PDF link https://www.cusd80.com/cms/lib/AZ01001175/Centricity/Domain/8922/eofad.pdf
Transcribed Image Text:Part II-A New Dilemma
Suzanne and David decided that Suzanne would take the diagnostic test. In preparing for a possible positive
result, they increased the value of Suzanne's life insurance and purchased the best long-term care policy
available. They also prayed together and promised each other that the test results would not change them,
only prepare them for the future.
The doctor swabbed the inside of Suzanne's cheek to obtain some cells. The DNA was extracted from these
cells and tested for the gene. Suzanne's test came back positive-she had inherited the gene mutation APP
from her father. When they got the news, Suzanne reacted with tearful stoicism, David with stunned silence.
Suzanne and David now have a new dilemma. They have always wanted to have children, but understand
that each of their children now has a 50% chance of inheriting the disease. In addition, it is likely that
Suzanne will not be able to raise (or even recognize) her children as her disease progresses. This would have
an impact on all of them-Suzanne, David, and any children they might have.
Should they have children?
Questions
1. What role is played by meiosis, oogenesis, and spermatogenesis in human reproduction? How is it
possible that 50% of Suzanne's eggs will be carrying the mutated APP gene?
2. What is DNA? A gene? An allele? How do genes determine traits?
3. The APP gene codes for a particular protein. Why does a mutated APP gene lead to problems in the
brain? What are the two other genes (and their resulting gene products-the proteins) that, when
mutated, can lead to EOFAD? How does each protein play a role in brain function?
4. Suzanne and Karen are carrying a mutated APP gene that they inherited from their father. What is a mutation?
How do mutations occur? Are mutations always passed along to the next generation? Explain.
5. The gene for this disease was located due to the efforts of scientists working on the Human Genome Project.
What was the main objective of this project? How was it funded? Was it successful? Please explain.
6. How is genetic testing accomplished? How is the DNA extracted from the cells, and how are testing
companies able to pinpoint particular alleles? What procedures, depicted in the photos below, are used
to find genes? How does this work?
Figure 3
Figure 4
Polymerase Chain Reaction with extracted DNA.
"Living With Her Genes" by Gildensoph, Stanford, & Wygal
Agarose gel electrophoresis of DNA fragments.
Page 3
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