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Ch. 19 - Genetic Analysis of Quantitative Traits
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
Chapter 19, Problem 21c

Applied to the study of the human genome, a goal of GWAS is to locate chromosome regions that are likely to contain genes influencing the risk of disease. Specific genes can be identified in these regions, and particular mutant alleles that increase disease risk can be sequenced. To date, the identification of alleles that increase disease risk has occasionally led to a new therapeutic strategy, but more often the identification of disease alleles is the only outcome.
What personal or ethical issues arising from GWAS might be of concern to physicians or to those who might carry an allele that increases disease risk?

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1
Understand the context of GWAS (Genome-Wide Association Studies): GWAS is a method used to identify genetic variants associated with specific diseases by scanning the genomes of many individuals. It helps locate regions on chromosomes that may contain genes influencing disease risk.
Consider the personal implications: Individuals who learn they carry alleles associated with increased disease risk may face psychological stress, anxiety, or fear about their health. They may also need to make decisions about lifestyle changes, medical monitoring, or preventive treatments.
Examine the ethical concerns for physicians: Physicians must navigate issues of informed consent, ensuring patients understand the implications of genetic testing. They must also address confidentiality and the potential misuse of genetic information by third parties, such as insurance companies or employers.
Reflect on societal and discrimination concerns: There is a risk of genetic discrimination, where individuals with certain alleles might face prejudice in employment, insurance, or social settings. This raises ethical questions about how genetic information should be used and protected.
Discuss the limitations of GWAS findings: Physicians and patients must understand that carrying a risk allele does not guarantee disease development. Environmental factors, lifestyle, and other genetic factors also play a role. This highlights the importance of interpreting GWAS results in a nuanced and responsible manner.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Genome-Wide Association Studies (GWAS)

GWAS are research methods used to identify genetic variants associated with specific diseases by scanning the genomes of many individuals. This approach helps pinpoint regions of the genome that may harbor genes influencing disease risk, allowing researchers to correlate specific alleles with health outcomes. Understanding GWAS is crucial for evaluating how genetic predispositions can inform medical decisions and public health strategies.
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Ethical Implications of Genetic Testing

The ethical implications of genetic testing, particularly in the context of GWAS, include concerns about privacy, consent, and potential discrimination. Individuals identified as carriers of risk alleles may face psychological distress, stigmatization, or discrimination in employment and insurance. Physicians must navigate these ethical dilemmas while providing care and ensuring that patients understand the implications of their genetic information.
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Informed Consent

Informed consent is a fundamental principle in medical ethics that requires patients to be fully informed about the risks, benefits, and implications of genetic testing before participating in studies like GWAS. This process ensures that individuals understand how their genetic data will be used and the potential consequences of discovering risk alleles. Proper informed consent is essential to respect patient autonomy and promote trust in medical research.
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Related Practice
Textbook Question

An association of racehorse owners is seeking a new genetic strategy to improve the running speed of their horses. Traditional breeding of fast male and female horses has proven expensive and time-consuming, and the breeders are interested in an approach using quantitative trait loci as a basis for selecting breeding pairs of horses. Write a brief synopsis (∼50 words) of QTL mapping to explain how genes influencing running speed might be identified in horses.

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Textbook Question

Applied to the study of the human genome, a goal of GWAS is to locate chromosome regions that are likely to contain genes influencing the risk of disease. Specific genes can be identified in these regions, and particular mutant alleles that increase disease risk can be sequenced. To date, the identification of alleles that increase disease risk has occasionally led to a new therapeutic strategy, but more often the identification of disease alleles is the only outcome.

From a physician's point of view, what is the value of being able to identify alleles that increase the risk of a particular disease?

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Textbook Question

Applied to the study of the human genome, a goal of GWAS is to locate chromosome regions that are likely to contain genes influencing the risk of disease. Specific genes can be identified in these regions, and particular mutant alleles that increase disease risk can be sequenced. To date, the identification of alleles that increase disease risk has occasionally led to a new therapeutic strategy, but more often the identification of disease alleles is the only outcome.

What is the value of being able to identify alleles that increase disease risk for a person who is currently free of the disease but who is at risk of developing the disease due to its presence in the family?

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Textbook Question

Suppose a polygenic system for producing color in kernels of a grain is controlled by three additive genes, G, M, and T. There are two alleles of each gene, G₁ and G₂, M₁ and M₂, and T₁ and T₂. The phenotypic effects of the three genotypes of the G gene are G₁G₁ = 6 units of color, G₁G₂ = 3 units of color, and G₂G₂ = 1 unit of color. The phenotypic effects for genes M and T are similar, giving the phenotype of a plant with the genotype G₁G₁M₁M₁T₁T₁ a total of 18 units of color and a plant with the genotype G₂G₂M₂M₂T₂T₂ a total of 3 units of color.

How many units of color are found in trihybrid plants?

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Textbook Question

Suppose a polygenic system for producing color in kernels of a grain is controlled by three additive genes, G, M, and T. There are two alleles of each gene, G₁ and G₂, M₁ and M₂, and T₁ and T₂. The phenotypic effects of the three genotypes of the G gene are G₁G₁ = 6 units of color, G₁G₂ = 3 units of color, and G₂G₂ = 1 unit of color. The phenotypic effects for genes M and T are similar, giving the phenotype of a plant with the genotype G₁G₁M₁M₁T₁T₁ a total of 18 units of color and a plant with the genotype G₂G₂M₂M₂T₂T₂ a total of 3 units of color.

Two trihybrid plants are mated. What is the expected proportion of progeny plants displaying 9 units of color? Explain your answer.

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Textbook Question

Suppose a polygenic system for producing color in kernels of a grain is controlled by three additive genes, G, M, and T. There are two alleles of each gene, G₁ and G₂, M₁ and M₂, and T₁ and T₂. The phenotypic effects of the three genotypes of the G gene are G₁G₁ = 6 units of color, G₁G₂ = 3 units of color, and G₂G₂ = 1 unit of color. The phenotypic effects for genes M and T are similar, giving the phenotype of a plant with the genotype G₁G₁M₁M₁T₁T₁ a total of 18 units of color and a plant with the genotype G₂G₂M₂M₂T₂T₂ a total of 3 units of color. Suppose that instead of an additive genetic system, kernel-color determination in this organism is a threshold system. The appearance of color in kernels requires nine or more units of color; otherwise, kernels have no color and appear white. In other words, plants whose phenotypes contain eight or fewer units of color are white. Based on the threshold model, what proportion of the F₂ progeny produced by the trihybrid cross in part (b) will be white?

Explain your answer.

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