Textbook Question
Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?
Individual sequencing (personal genomics) identifies a mutation associated with Alzheimer's disease.
Ch. 22 - Applications of Genetic Engineering and Biotechnology
Klug12th EditionConcepts of Genetics ISBN: 9780135564776
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Table of contents
- Ch. 1 - Introduction to Genetics17
- Ch. 2 - Mitosis and Meiosis36
- Ch. 3 - Mendelian Genetics51
- Ch. 4 - Extensions of Mendelian Genetics74
- Ch. 5 - Chromosome Mapping in Eukaryotes51
- Ch. 6 - Genetic Analysis and Mapping in Bacteria and Bacteriophages46
- Ch. 7 - Sex Determination and Sex Chromosomes33
- Ch. 8 - Chromosome Mutations: Variation in Number and Arrangement40
- Ch. 9 - Extranuclear Inheritance31
- Ch. 10 - DNA Structure and Analysis43
- Ch. 11 - DNA Replication and Recombination44
- Ch. 12 - DNA Organization in Chromosomes30
- Ch. 13 - The Genetic Code and Transcription54
- Ch. 14 - Translation and Proteins47
- Ch. 15 - Gene Mutation, DNA Repair, and Transposition41
- Ch. 16 - Regulation of Gene Expression in Bacteria29
- Ch. 17 - Transcriptional Regulation in Eukaryotes41
- Ch. 18 - Post-transcriptional Regulation in Eukaryotes33
- Ch. 19 - Epigenetics33
- Ch. 20 - Recombinant DNA Technology44
- Ch. 21 - Genomic Analysis36
- Ch. 22 - Applications of Genetic Engineering and Biotechnology36
- Ch. 23 - Developmental Genetics37
- Ch. 24 - Cancer Genetics34
- Ch. 25 - Quantitative Genetics and Multifactorial Traits54
- Ch. 26 - Population and Evolutionary Genetics45
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Klug 12th EditionCh. 22 - Applications of Genetic Engineering and BiotechnologyProblem 9b
Klug 12th EditionCh. 22 - Applications of Genetic Engineering and BiotechnologyProblem 9bChapter 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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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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Related Practice
Textbook Question
As genetic testing becomes widespread, medical records will contain the results of such testing. Who should have access to this information? Should employers, potential employers, or insurance companies be allowed to have this information? Would you favor or oppose having the government establish and maintain a central database containing the results of individuals' genome scans?
Textbook Question
Might it make sense someday to sequence every newborn's genome at the time of birth? What are the potential advantages and concerns of this approach?
Textbook Question
Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?
DNA sequencing of a breast tumor reveals mutations in the BRCA1 gene.
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
Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?
Genetic testing in a healthy teenager identifies an SNP correlated with autism.
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