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
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
17. Mutation, Repair, and Recombination
Types of Mutations
2:41 minutes
Problem 13b
Textbook Question
Textbook QuestionLook over the 10 diseases approved for genetic health risk assessment listed in Application Chapter B. Select one disease other than the three discussed in Application Chapter B or in this chapter (alpha-1 antitrypsin deficiency, late-onset Alzheimer disease, and celiac disease) or another of the diseases of your choice. Do a brief Internet search to find and download (1) one article for a nonscientific audience identifying the gene or genes whose alleles are associated with occurrence of the disease and (2) one scientific paper that provides data supporting the association of specific alleles of the gene or genes with the disease. Write a short summary combining the information contained in the two papers.
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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Genetic Risk Factors
Genetic risk factors are specific alleles or mutations in genes that increase the likelihood of developing certain diseases. Understanding these factors is crucial for genetic health risk assessments, as they help identify individuals who may be predisposed to conditions based on their genetic makeup. For example, variations in the BRCA1 and BRCA2 genes are linked to a higher risk of breast and ovarian cancer.
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Alleles and Their Associations
Alleles are different versions of a gene that can exist at a specific locus on a chromosome. The association between certain alleles and diseases is often established through genetic studies, which analyze how these variations correlate with disease occurrence. Identifying these associations helps in understanding the genetic basis of diseases and can guide preventive measures or treatments.
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Scientific vs. Nonscientific Literature
Scientific literature includes peer-reviewed articles that present original research, methodologies, and data supporting findings, while nonscientific literature is aimed at a general audience and simplifies complex topics. When researching genetic diseases, it is important to differentiate between these types of sources to ensure accurate understanding and communication of genetic information. Combining insights from both can provide a comprehensive view of the genetic factors involved in a disease.
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