Printable Handouts

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Navigable Slide Index

1. Introduction
2. Types of mutations
3. Dominance or recessivity?
4. Dominance
5. Collagen
6. Dominant negative mutations in collagen genes
7. Dominance - gain of function
8. Alpha-1-antitrypsin
9. Dominance at the level of the organism
10. Retinoblastoma
11. Point mutations
12. Splice site mutation
13. Deletions
14. Recurrent deletion
15. Williams syndrome
16. Fragile X
17. Trinucleotide expansion mutations

Topics Covered

• Types of mutation
• Point mutation
• Submicroscopic deletion or insertion
• Microscopically visible deletion, translocation or inversion
• Loss of a whole chromosome
• Dominance or recessivity
• Dominant negative mutations in collagen genes
• Retinoblastoma
• Williams Syndrome
• Fragile X
• Trinucleotide expansion mutations

Links

Series:

• Introduction to Human Genetics

Categories:

• Clinical Practice
• Genetics & Epigenetics

Talk Citation

Publication History

• Published on December 28, 2009
• Archived on September 8, 2024

Financial Disclosures

• Prof. Jonathan Wolfe has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.