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Ch. 2 - Transmission Genetics
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
Chapter 2, Problem 51b

For a number of human hereditary conditions, genetic testing is available to identify heterozygous carriers. Some heterozygous carrier testing programs are community-based, often as part of an organized effort targeting specific populations in which a disease and carriers of a disease are relatively frequent. For example, carrier genetic testing programs for Tay–Sachs disease target Ashkenazi Jewish populations and sickle cell disease carrier testing programs target African American populations. The testing is usually free or available at minimal cost, the wait time for results is short, and the results are confidential and unavailable to third parties such as insurance companies. Neither the Tay–Sachs nor the sickle cell allele produces serious consequences for heterozygous carriers.
In a broader sense, what is the value of a community-based effort targeting specific populations for selected diseases?

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1
Understand the concept of community-based genetic testing: These programs aim to identify carriers of specific hereditary conditions within populations where the disease is more prevalent. This helps in early detection and informed decision-making.
Recognize the benefits of targeting specific populations: Certain genetic conditions, like Tay–Sachs disease in Ashkenazi Jewish populations or sickle cell disease in African American populations, have higher carrier frequencies in these groups. Targeting these populations ensures efficient use of resources and maximizes the impact of testing programs.
Consider the ethical and social implications: Community-based efforts often provide free or low-cost testing, maintain confidentiality, and ensure results are not shared with third parties like insurance companies. This reduces barriers to testing and encourages participation.
Evaluate the broader value: These programs help individuals make informed reproductive choices, reduce the incidence of genetic diseases, and raise awareness about hereditary conditions within the community.
Reflect on the importance of education and outreach: Community-based efforts often include educational components to inform individuals about the genetic condition, its inheritance patterns, and the significance of carrier status, fostering a proactive approach to health.

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Key Concepts

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

Heterozygous Carriers

Heterozygous carriers possess one normal allele and one mutated allele for a specific gene. In many hereditary conditions, these individuals typically do not exhibit symptoms of the disease but can pass the mutated allele to their offspring. Understanding the role of heterozygous carriers is crucial for assessing the risk of genetic disorders within populations, especially in targeted screening programs.
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Community-Based Genetic Testing

Community-based genetic testing programs are initiatives designed to identify carriers of genetic conditions within specific populations. These programs often focus on groups with a higher prevalence of certain genetic disorders, providing accessible testing and education. By targeting these communities, such programs can effectively reduce the incidence of genetic diseases and promote informed reproductive choices.
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Public Health Implications

The public health implications of community-based genetic testing are significant, as they can lead to early detection and prevention of genetic disorders. By identifying carriers within specific populations, health initiatives can implement strategies to educate individuals about their genetic risks, ultimately reducing the burden of disease. This proactive approach fosters healthier communities and enhances overall public health outcomes.
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Related Practice
Textbook Question

Select a human hereditary disease or condition you would like to know more about. Using the OMIM website (http://www.ncbi.nlm.nih.gov/omim), search for the disease and prepare a short synopsis of your findings. Include the following information:

A description of the disease or condition.

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Textbook Question

Select a human hereditary disease or condition you would like to know more about. Using the OMIM website (http://www.ncbi.nlm.nih.gov/omim), search for the disease and prepare a short synopsis of your findings. Include the following information:

Any available information about the population(s) in which the disease is most common.

495
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Textbook Question

For a number of human hereditary conditions, genetic testing is available to identify heterozygous carriers. Some heterozygous carrier testing programs are community-based, often as part of an organized effort targeting specific populations in which a disease and carriers of a disease are relatively frequent. For example, carrier genetic testing programs for Tay–Sachs disease target Ashkenazi Jewish populations and sickle cell disease carrier testing programs target African American populations. The testing is usually free or available at minimal cost, the wait time for results is short, and the results are confidential and unavailable to third parties such as insurance companies. Neither the Tay–Sachs nor the sickle cell allele produces serious consequences for heterozygous carriers.

From a genetic perspective, what is the value of the information obtained by genetic testing of the type described?

479
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Textbook Question

For a number of human hereditary conditions, genetic testing is available to identify heterozygous carriers. Some heterozygous carrier testing programs are community-based, often as part of an organized effort targeting specific populations in which a disease and carriers of a disease are relatively frequent. For example, carrier genetic testing programs for Tay–Sachs disease target Ashkenazi Jewish populations and sickle cell disease carrier testing programs target African American populations. The testing is usually free or available at minimal cost, the wait time for results is short, and the results are confidential and unavailable to third parties such as insurance companies. Neither the Tay–Sachs nor the sickle cell allele produces serious consequences for heterozygous carriers.

Do you personally think you would participate in the kind of carrier genetic testing described if you were a member of a population targeted for such testing?

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Textbook Question

In humans, the ability to bend the thumb back beyond vertical is called hitchhiker's thumb and is dominant to the inability to do so (OMIM 274200). Also, the presence of attached earlobes is recessive to unattached earlobes (OMIM 128900).

Check your own phenotype and those of several friends or classmates.

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Textbook Question

In humans, the ability to bend the thumb back beyond vertical is called hitchhiker's thumb and is dominant to the inability to do so (OMIM 274200). Also, the presence of attached earlobes is recessive to unattached earlobes (OMIM 128900).

Using all available and willing members of your family, or members of another family if yours is not easily accessible, trace the transmission of both traits in a pedigree. Use allelic symbols H and h for the thumb and E and e for earlobes, and identify the genotypes for each family member as completely as possible. Bring the pedigree back to share with your group.

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