Printable Handouts

PDF

Navigable Slide Index

1. Introduction
2. The sources of genomic variation
3. Overview
4. Range of the puma (puma concolor)
5. Range of homo sapiens
6. Prehistoric and ancient population growth
7. Phylogeny of plasmodium with hosts
8. Pontine marshes
9. Anopheles messeae
10. Pontine marshes distant view
11. Hippocrates on the health of people
12. Favism
13. Cause of favism: mutation in G6PD
14. Mutations in G6PD: G6PD med
15. G6PD- function (1)
16. Distribution of G6PD deficiencies and of malaria
17. G6PD- function (2)
18. G6PD and malaria
19. Malaria is and was a huge killer
20. The sources of genomic diversity
21. Point mutation (1)
22. Point mutation (2)
23. Point mutation (3)
24. Point mutation: error rate
25. The sources of genomic diversity - mutations
26. Other mutations
27. Consequences of large mutations
28. Sources of genomic diversity - effect of mutations
29. Genetic diversity across the genome
30. Key fact 1: most mutations do nothing
31. What mutations are functional?
32. The gene: where a mutation might hit
33. Translation
34. Coding mutations (1)
35. Coding mutations (2)
36. Coding mutations: synonymous or silent mutation
37. Nonsynonymous but conservative mutations
38. Nonsynonymous nonconservative mutations
39. Coding mutations: nonsense (mutation to stop)
40. Statistics for coding - region mutations
41. Coding mutations: indels (insertions or deletions)
42. Where a mutation might hit: promoter
43. Where a mutation might hit: introns
44. Most mutations do nothing
45. Most mutations do (almost) nothing
46. Mutations happen, but what happens next?
47. Sources of genomic diversity: neutral mutations
48. The fate of a neutral mutation
49. Inheritance in a pedigree
50. A nuclear family
51. Inheritance of genotypes
52. Family inheritance as the source of genetic drift
53. The frequency of the mutation does a random walk
54. What we actually detect: polymorphic loci
55. Fixation
56. Variation across the genome
57. Turning this around: similarity across the genome
58. Sources of genomic diversity: deletrious mutations
59. Inheritance of phenotypes (1)
60. Inheritance of phenotypes (2)
61. Deleterious mutations in the population
62. Two types of severe genetic disorder
63. Deleterious mutations
64. Mildly deleterious mutations
65. An outline of genomic diversity
66. Beneficial mutations: new protein shapes (1)
67. Beneficial mutations: new protein shapes (2)
68. FOXP2
69. FOXP2 in animals
70. FOXP2 mutations
71. The similarity and diversity of human talents
72. Beneficial/deleterious mutations (1)
73. Beneficial/deleterious mutations (2)
74. CCR5 delta 32 (1)
75. CCR5 delta 32 (2)
76. CCR5 delta32 and AIDS
77. Selection of delta 32
78. Balancing selection
79. Distribution of Hgb S
80. Hgb S: balancing selection
81. Geographical selection
82. Sources of genomic diversity: promotor mutations
83. "Adjusting selection": promoter mutations
84. Effect of varying expression of proteins
85. Special problems of immune response
86. The HLA region on chromosome 6
87. RANTES
88. Successive mutations in RANTES
89. RANTES and HIV
90. The sources of genomic diversity: haplotypes
91. Independent inheritance: Mendel's third law
92. Some traits are inherited together: linkage
93. The limits of linkage: recombination (1)
94. The limits of linkage: recombination (2)
95. Haplotypes (1)
96. Haplotypes (2)
97. Mapping by linkage in a family association study
98. The FOXP2 mutation pedigree
99. Limitations of family studies
100. Population haplotypes (1)
101. Population haplotypes(2)
102. Haplotype blocks (1)
103. Haplotype blocks(2)
104. Using haplotype blocks
105. Haplotypes can date mutations
106. Age of G6PD mutations (1)
107. Age of G6PD mutations (2)
108. An afterword: natural selection and human races(1)
109. An afterword: natural selection and human races(2)
110. Acknowledgements

Topics Covered

• The sources of genomic diversity: DNA and mutation, effect of mutations, inheritance, selection and drift
• Environmental diversity
• Natural selection
• Human genomic diversity
• Population growth
• G6PD
• DNA and mutation: point mutations (SNPs) and more complex mutations
• The effect of mutations: insertions or deletions and large chromosomal inversions
• Translation
• Coding mutations
• The fate of mutations
• Neural mutations
• Deleterious mutations
• Radically beneficial mutations: FOXP2
• Sometimes beneficial/sometimes deleterious mutations: CCR5 delta-32 and Hgb S
• Promoter mutations
• Mutations traveling together: haplotypes

Links

Series:

• Using Bioinformatics in the Exploration of Genetic Diversity

Categories:

• Genetics & Epigenetics

Talk Citation

Publication History

• Published on October 1, 2007

Financial Disclosures

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