• 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. Definitions
3. Cytogenetics
4. Chromosome structure
5. Centromere position in chromosomes
6. Chromosome groups
7. Karyotyping (1)
8. Karyotyping (2)
9. G banding
10. Karyotyping (3)
11. Normal male karyogram
12. Q banding
13. R banding
14. C banding
15. ISCN (1)
16. ISCN (2)
17. ISCN (3)
18. ISCN (4)
19. Types of chromosome abnormalities
20. Numerical
21. Aneuploidy
22. Sex chromosomes
23. Sex chromosome abnormalities
24. Down syndrome, trisomy 21
25. Edwards syndrome, trisomy 18
26. Patau syndrome, trisomy 13
27. Structural abnormalities
28. Translocations
29. Robertsonian translocations (1)
30. Robertsonian translocations (2)
31. Robertsonian translocations (3)
32. Robertsonian translocations (4)
33. Robertsonian translocation family pedigree
34. Reciprocal translocations (1)
35. Reciprocal translocations (2)
36. Inversions
37. Insertions
38. Deletions
39. Ring chromosome
40. Isochromosome
41. Extra Structurally Abnormal Chromosome

Topics Covered

• Definitions
• Cytogenetics
• Chromosomes
• Karyotyping
• G banding
• Normal male karyogram
• Q banding
• R banding
• C banding
• ISCN
• Types of chromosome abnormalities
• Aneuploidy
• Sex chromosome abnormalities
• Down syndrome, trisomy 21
• Edwards syndrome, trisomy 18
• Patau syndrome, trisomy 13
• Robertsonian translocations
• Reciprocal translocations
• Inversions
• Insertions
• Deletions
• Ring chromosome
• Isochromosomes
• ESAC

Links

Series:

• Introduction to Human Genetics

Categories:

• Genetics & Epigenetics

Talk Citation

Publication History

• Published on January 6, 2010

Financial Disclosures

• Dr. Sioban SenGupta has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.