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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 21b

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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1
Understand the purpose of GWAS (Genome-Wide Association Studies): GWAS aims to identify genetic variants associated with specific diseases by analyzing the genomes of many individuals. This helps locate regions on chromosomes that may contain genes influencing disease risk.
Recognize the importance of identifying alleles that increase disease risk: Knowing which alleles are associated with a higher risk of disease can provide valuable information for individuals who are currently disease-free but have a family history of the disease.
Explain how this information can be used for preventive measures: If a person knows they carry a high-risk allele, they can take proactive steps such as lifestyle changes, regular medical screenings, or early interventions to reduce the likelihood of developing the disease.
Discuss the potential for personalized medicine: Identifying risk alleles allows for tailored medical advice and treatments based on an individual's genetic profile, improving the effectiveness of healthcare strategies.
Highlight the role of genetic counseling: For individuals at risk, genetic counseling can provide guidance on understanding their genetic predisposition, the implications for their health, and the options available to manage or mitigate the risk.

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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 locate chromosome regions that may harbor genes influencing disease risk, allowing researchers to correlate genetic variations with health outcomes. By identifying these associations, GWAS can provide insights into the genetic basis of diseases and potential therapeutic targets.
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Alleles and Genetic Risk

Alleles are different versions of a gene that can exist at a specific locus on a chromosome. Some alleles may be associated with an increased risk of developing certain diseases, particularly in individuals with a family history of those conditions. Understanding which alleles are linked to disease risk can help in assessing an individual's likelihood of developing the disease, even if they are currently healthy.
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Preventive Healthcare and Risk Assessment

Identifying alleles that increase disease risk is valuable for preventive healthcare, as it allows for early intervention strategies. Individuals at risk can be monitored more closely, adopt lifestyle changes, or undergo regular screenings to catch potential health issues early. This proactive approach can lead to better health outcomes and may reduce the overall burden of disease in at-risk populations.
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Related Practice
Textbook Question

During a visit, your grandparents comment on how tall you are compared with them. You tell them that in your genetics class, you learned that height in humans has high heritability, although environmental factors also influence adult height. You correctly explain the meaning of heritability, and your grandfather asks, 'How can height be highly heritable and still be influenced by the environment?' What explanation do you give your grandfather?

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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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views
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 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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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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