Table of contents

1. Introduction to Genetics51m
2. Mendel's Laws of Inheritance3h 37m
3. Extensions to Mendelian Inheritance2h 41m
4. Genetic Mapping and Linkage2h 28m
5. Genetics of Bacteria and Viruses1h 21m
6. Chromosomal Variation1h 48m
7. DNA and Chromosome Structure56m
8. DNA Replication1h 10m
9. Mitosis and Meiosis1h 34m
10. Transcription1h 0m
11. Translation58m
12. Gene Regulation in Prokaryotes1h 19m
13. Gene Regulation in Eukaryotes44m
14. Genetic Control of Development44m
15. Genomes and Genomics1h 50m
16. Transposable Elements47m
17. Mutation, Repair, and Recombination1h 6m
18. Molecular Genetic Tools19m
- Genetic Cloning
  9m
- Methods for Analyzing DNA
  9m
19. Cancer Genetics29m
- Overview of Cancer
  21m
- Cancer Mutations
  7m
20. Quantitative Genetics1h 26m
21. Population Genetics50m
- Hardy Weinberg
  19m
- Allelic Frequency Changes
  31m
22. Evolutionary Genetics29m

18. Molecular Genetic Tools

Methods for Analyzing DNA

Genetics

18. Molecular Genetic Tools

Methods for Analyzing DNA

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1:23 minutes

Problem 9e

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.

Verified step by step guidance

Understand the difference between diagnostic and prognostic tests: Diagnostic tests are used to confirm or rule out a specific genetic condition in an individual who is showing symptoms. Prognostic tests, on the other hand, provide information about the likely course or outcome of a condition, often predicting the severity or progression of a disease.

Analyze the scenario: The individual has already been diagnosed with Asperger syndrome (AS). The genetic test is being used to identify a SNP (single nucleotide polymorphism) in the GABRB3 gene that is more common in people with AS than in the general population.

Determine the purpose of the test: Since the individual is already diagnosed with AS, the test is not being used to confirm the diagnosis. Instead, it is identifying a genetic variant associated with the condition, which could provide information about the genetic basis or potential progression of AS.

Classify the test: Based on the purpose, this test is more aligned with a prognostic test because it provides additional information about the genetic factors associated with AS rather than diagnosing the condition itself.

Conclude: The genetic test in this scenario is a prognostic test, as it is not used to diagnose AS but rather to explore genetic associations that may have implications for understanding the condition's progression or characteristics.

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Key Concepts

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

Prognostic vs. Diagnostic Testing

Prognostic tests are used to predict the likelihood of developing a disease or the likely course of an existing disease, while diagnostic tests are used to confirm or rule out a specific condition. Understanding the distinction is crucial for interpreting genetic test results, as it informs whether the test is assessing risk or confirming a diagnosis.

Single Nucleotide Polymorphism (SNP)

A Single Nucleotide Polymorphism (SNP) is a variation at a single position in a DNA sequence among individuals. SNPs can influence how individuals respond to diseases, medications, and environmental factors, making them significant in genetic testing for both diagnostic and prognostic purposes.

GABRB3 Gene and Asperger Syndrome

The GABRB3 gene encodes a subunit of the GABA receptor, which is involved in inhibitory neurotransmission in the brain. Variations in this gene have been associated with neurodevelopmental disorders, including Asperger syndrome, highlighting the importance of genetic testing in understanding the genetic basis of such conditions.

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Textbook Question

Additional STR allele frequency information can be added to improve the analysis in Problem 8. The frequency of D8S1179₁₂ = 0.12. The frequency of D16S539₁₈ = 0.08 and of D16S539₂₀ = 0.21. Lastly, D18S51₁₉ = 0.13 and D18S51₂₀ = 0.10. Combine the allele frequency information for these three STR genes with the information used in Problem 8 to calculate the frequency of the genotype for six of the STR genes.

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

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

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

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Textbook Question

The frequencies of the four alleles contributed to the child by possible father F1 in Problem 7 are 0.18, 0.23, 0.13, and 0.14. Make a statement about the possible paternity of F1 based on this analysis.

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Textbook Question

The frequencies of the four alleles contributed to the child by possible father F1 in Problem 7 are 0.18, 0.23, 0.13, and 0.14. Calculate the Combined Paternity Index (CPI) for the four genes in this analysis.

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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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