• 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. Cystic fibrosis
3. Cystic fibrosis: survival
4. Positional cloning
5. Linkage analysis
6. Pedigree analysis
7. Further linkage analysis
8. Step 1: chromosome walking to make a contig
9. Chromosome jumping
10. The resulting contig
11. Step 2: Identification of candidate genes: Zoo blot
12. Zoo blots
13. Identification of candidate genes: Northern blots
14. Northern blots
15. Identifying the cystic fibrosis gene: conclusions
16. Mutations in CFTR
17. Identifying the cystic fibrosis gene: summary
18. Remaining questions
19. Duchenne muscular dystrophy
20. Translocation between chromosomes X and 21
21. Subtractive cloning
22. Subtractive cloning using PERT
23. Role of dystrophin
24. References

Topics Covered

• Cystic fibrosis
• Survival
• Positional cloning
• Linkage analysis
• Pedigree analysis
• Zoo blots
• Northern blots
• Mutations
• Duchenne muscular dystrophy
• Translocation
• Subtractive cloning between chromosome X and chromosome 21
• Role of Dystrophin

Links

Series:

• Introduction to Human Genetics

Categories:

• Clinical Practice
• Genetics & Epigenetics

Talk Citation

Publication History

• Published on December 28, 2009

Financial Disclosures

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