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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 51c

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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1
Step 1: Begin by understanding the concept of carrier genetic testing. Carrier testing identifies individuals who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. Heterozygous carriers typically do not exhibit symptoms of the disorder.
Step 2: Consider the purpose of community-based carrier testing programs. These programs aim to identify carriers in populations with a higher prevalence of specific genetic conditions, such as Tay–Sachs disease in Ashkenazi Jewish populations or sickle cell disease in African American populations.
Step 3: Reflect on the benefits of participating in such testing. Benefits include gaining knowledge about your genetic status, which can inform family planning decisions, and the fact that testing is often free, confidential, and has minimal wait times for results.
Step 4: Evaluate the ethical and personal considerations. Consider factors such as privacy, potential emotional impact of the results, and whether knowing your carrier status aligns with your personal values and goals.
Step 5: Make an informed decision based on the scientific, ethical, and personal factors discussed. Participation in carrier genetic testing is a personal choice and should be made after weighing the benefits and implications.

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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. While they typically do not exhibit symptoms of the associated genetic disorder, they can pass the mutated allele to their offspring. Understanding the implications of being a carrier is crucial for assessing the risk of hereditary conditions in future generations.
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Genetic Testing

Genetic testing involves analyzing an individual's DNA to identify genetic disorders or carrier status for specific conditions. This testing can provide valuable information about the likelihood of passing on genetic diseases, enabling informed reproductive choices. The availability of such testing, especially in targeted populations, highlights the importance of public health initiatives in managing hereditary diseases.
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Population-Specific Testing Programs

Population-specific testing programs are designed to identify carriers of genetic conditions prevalent in certain ethnic or demographic groups. These programs often focus on diseases like Tay-Sachs and sickle cell anemia, which have higher carrier frequencies in specific populations. By targeting these groups, such programs aim to reduce the incidence of genetic disorders through early identification and education.
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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:

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

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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?

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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.

In a broader sense, what is the value of a community-based effort targeting specific populations for selected diseases?

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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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