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
3:17 minutes
Problem 12c
Textbook Question
Textbook QuestionIf you were to look up Gaucher disease on the OMIM website, you would see that there are three major types, designated Type I (OMIM 230800), Type II (OMIM 230900), and Type III (OMIM 231000). All three types are mutations of the gene for acid-β-glucosidase, encoded on chromosome 1. Different mutations of this gene produce the three types of Gaucher disease that differ somewhat in their symptoms and disease severity.
For each mutation, speculate about whether the acid-β-glucosidase enzyme is merely reduced in function or whether its production is eliminated, and explain why.
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