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Ch. 22 - Applications of Genetic Engineering and Biotechnology
Klug - Concepts of Genetics 12th Edition
Klug12th EditionConcepts of Genetics ISBN: 9780135564776Not the one you use?Change textbook
All textbooksKlug 12th EditionCh. 22 - Applications of Genetic Engineering and BiotechnologyProblem 12
Chapter 22, Problem 12

What is the main purpose of genome-wide association studies (GWAS)? How can information from GWAS be used to inform scientists and physicians about genetic diseases?

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Understand the purpose of GWAS: Genome-wide association studies (GWAS) aim to identify genetic variants across the genome that are associated with specific traits or diseases. This is achieved by analyzing large datasets of genetic information from individuals with and without the trait or disease.
Learn how GWAS works: GWAS involves scanning the genome for single nucleotide polymorphisms (SNPs) and other genetic markers. Statistical methods are used to determine whether certain genetic variants are significantly associated with the trait or disease being studied.
Interpret the results: Once genetic variants are identified, researchers can pinpoint regions of the genome that may contribute to the development of the disease or trait. These regions often contain genes or regulatory elements that play a role in biological processes.
Apply findings to medical research: Information from GWAS can help scientists understand the genetic basis of diseases, identify potential drug targets, and develop personalized medicine approaches. Physicians can use this data to assess genetic risk factors in patients and guide prevention or treatment strategies.
Consider limitations and future directions: GWAS results often require further validation and functional studies to confirm the role of identified genetic variants. Additionally, GWAS may not capture rare variants or complex interactions between genes and environmental factors, which are important for understanding genetic diseases comprehensively.

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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. They compare the DNA of individuals with a particular condition to those without, looking for common genetic markers. This approach helps in understanding the genetic basis of diseases and can reveal potential targets for treatment.
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Single Nucleotide Polymorphisms (SNPs)

SNPs are the most common type of genetic variation among people, where a single nucleotide in the genome differs between individuals. In GWAS, researchers often focus on SNPs to find associations with diseases. Identifying these variations can help in understanding how genetic differences contribute to disease susceptibility and progression.
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Translational Medicine

Translational medicine is the process of applying findings from basic science to enhance human health and disease treatment. Information from GWAS can inform scientists and physicians about genetic predispositions to diseases, leading to personalized medicine approaches. This can improve diagnosis, prevention strategies, and the development of targeted therapies based on an individual's genetic profile.
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Related Practice
Textbook Question

Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?

An adult diagnosed with Asperger syndrome (AS) has a genetic test that reveals an SNP in the GABRB3 gene that is significantly more common in people with AS than the general population.

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Textbook Question

Does genetic analysis by ASO testing allow for detection of epigenetic changes that may contribute to a genetic disorder? Explain your answer.

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Textbook Question

Maternal blood tests for three pregnant women revealed they would be having boys, yet subsequent ultrasound images showed all three were pregnant with girls. In each case Y chromosome sequences in each mother's blood originated from transplanted organs they had received from men! This demonstrates one dramatic example of a limitation of genetic analysis of maternal blood samples. What kind of information could have been collected from each mother in advance of these tests to better inform physicians prior to performing each test?

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Textbook Question

Describe how the team from the J. Craig Venter Institute created a synthetic genome. How did the team demonstrate that the genome converted the recipient strain of bacteria into a different strain?

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Textbook Question

Consider ethical issues associated with creating a synthetic human genome. Are there specific applications for a synthetic human genome that you support? Is creating a synthetic genome enhanced with genes for certain kinds of traits one of those applications?

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Textbook Question

The family of a sixth-grade boy in Palo Alto, California, was informed by school administrators that he would have to transfer out of his middle school because they believed his mutation of the CFTR gene, which does not produce any symptoms associated with cystic fibrosis, posed a risk to other students at the school who have cystic fibrosis. After missing 11 days of school, a settlement was reached to have the boy return to school. What ethical problems might you associate with this example?

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