• Basic Concepts
• 19 min
  1. Molecular structure of the human genome

  • Prof. Jonathan Wolfe
• 31 min
  2. Introduction to mutation and disease

  • Prof. Jonathan Wolfe
• 26 min
  3. Introduction to genetic diseases

  • Prof. Jonathan Wolfe
• 26 min
  4. Historical introduction to human diversity I

  • Prof. Dallas Swallow
• 28 min
  5. Historical introduction to human diversity II

  • Prof. Dallas Swallow
• 23 min
  6. Introduction to cytogenetics 1

  • Dr. Sioban SenGupta
• 15 min
  7. Introduction to cytogenetics 2

  • Dr. Sioban SenGupta
• 16 min
  8. Introduction to cytogenetics 3

  • Dr. Sioban SenGupta
• 42 min
  9. The Y-chromosome

  • Prof. Mark Jobling
• 42 min
  10. Mitochondrial DNA, molecular genetics and human mitochondrial diseases

  • Prof. Immo Scheffler
• 66 min
  11. Mechanisms of DNA repair by recombination

  • Prof. James Haber
• 26 min
  12. Techniques utilized in molecular genetics

  • Dr. Cecil Lewis
• 36 min
  13. Genome mapping

  • Dr. Simon Gregory
• 35 min
  14. Copy number variation

  • Dr. Ömer Gökçümen
• Genetics and Disease
• 45 min
  15. Genetic association studies

  • Prof. David Balding
• 42 min
  16. Quantitative genetics and multifactorial inheritance

  • Dr. Lara Bauman
• Human Evolutionary Genetics
• 34 min
  17. Population genetics

  • Dr. Murray P. Cox
• 59 min
  18. Inference on human history through DNA

  • Prof. Guido Barbujani
• 37 min
  19. Human adaptation

  • Prof. Rasmus Nielsen
• Specialized Topics
• 44 min
  20. Accessing and using ENCODE data

  • Prof. Peggy Farnham
• 44 min
  21. Pharmacogenetics

  • Prof. Ann Daly
• 33 min
  22. Genetics in forensics

  • Dr. Angel Carracedo
• 29 min
  23. The development and evolution of human gene therapy

  • Prof. Theodore Friedmann
• 33 min
  24. Next generation sequencing technologies

  • Dr. Krishna Veeramah

Printable Handouts

PDF

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.