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
2:48 minutes
Problem 27
Textbook Question
Textbook QuestionMarfan syndrome is an autosomal dominant disorder in humans. It results from mutation of a gene on chromosome 15 that produces the connective tissue protein fibrillin. In its wild-type form, fibrillin gives connective tissues, such as cartilage, elasticity. When mutated, however, fibrillin is rigid and produces a range of phenotypic complications, including excessive growth of the long bones of the leg and arm, sunken chest, dislocation of the lens of the eye, and susceptibility to aortic aneurysm, which can lead to sudden death in some cases. Different sets of symptoms are seen among various family members, as shown in the pedigree below. Each quadrant of the circles and squares represents a different symptom, as the key indicates. All cases of Marfan syndrome are caused by mutation of the fibrillin gene, and all family members with Marfan syndrome carry the same mutant allele. What do the differences shown in the phenotypes of family members say about the expression of the mutant allele?
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