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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
Chapter 22, Problem 9b

Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?
ASO testing determines that an individual is a carrier for the mutant β-globin allele (βˢ) found in sickle-cell anemia.

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1
Understand the difference between diagnostic and prognostic tests: Diagnostic tests are used to identify the presence of a disease or condition in an individual, while prognostic tests predict the likely course or outcome of a disease in the future.
Analyze the purpose of ASO (Allele-Specific Oligonucleotide) testing: This test is designed to detect specific mutations in DNA, such as the β-globin allele (βˢ) associated with sickle-cell anemia.
Determine whether ASO testing is diagnostic or prognostic: Since ASO testing identifies whether an individual is a carrier of a specific mutant allele, it is diagnostic because it provides information about the genetic status of the individual rather than predicting the future progression of a disease.
Consider the implications of being a carrier: Being a carrier of the βˢ allele does not mean the individual has sickle-cell anemia but indicates they can pass the allele to offspring. This reinforces the diagnostic nature of the test.
Conclude that ASO testing for the βˢ allele is a diagnostic test, as it identifies the presence of a specific genetic mutation rather than predicting the future course of a disease.

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Key Concepts

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

Prognostic Testing

Prognostic testing assesses the likelihood of developing a disease or the potential outcome of a disease based on genetic information. These tests help predict the risk of disease progression or recurrence, guiding preventive measures or treatment strategies. For example, a prognostic test might indicate the risk of developing complications from a genetic condition.
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Diagnostic Testing

Diagnostic testing is used to confirm or rule out a specific genetic condition or disease in an individual. These tests provide definitive information about the presence of a genetic mutation or disorder, allowing for accurate diagnosis and treatment planning. For instance, ASO testing for the β-globin allele in sickle-cell anemia is a diagnostic test that identifies carriers of the mutation.
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Carrier Testing

Carrier testing determines whether an individual carries a gene for a recessive genetic disorder, even if they do not exhibit symptoms. This type of testing is crucial for assessing the risk of passing on genetic conditions to offspring. In the context of sickle-cell anemia, ASO testing identifies carriers of the β-globin allele, which can inform family planning and reproductive choices.
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