Population and Multifactorial Genetics — Scientific Monograph

Genetics · Basic Sciences

How it begins

Del equilibrio de Hardy-Weinberg al modelo de umbral: una exposición rigurosa de la genética de poblaciones y de la herencia compleja, con sus formulaciones matemáticas y sus correlaciones clínicas.

What it covers

1. Table of contents
2. · Part I — Population Genetics
3. · Part II — Multifactorial Genetics
4. Population Genetics
5. Object and scope of population genetics
6. · Objectives of population analysis
7. Allele and genotypic frequencies
8. · Allele frequencies
9. · Genotypic frequencies
10. · Multiallelic loci
11. Hardy-Weinberg Law
12. · Classic statement
13. · Intuitive proof using a population Punnett square
14. · The five premises of balance
15. · Fundamental Corollaries
16. · Equilibrium goodness of fit test
17. Hardy-Weinberg for X-linked genes
18. Clinical applications of the law
19. · Estimation of carriers in autosomal recessive diseases
20. · Population screening
21. Mutation as an evolutionary force
22. · Mutation rates
23. · Effect on allele frequencies
24. · Recurrent mutation and de novo mutation
25. Migration and gene flow
26. · Simple migration model
27. Genetic drift, founder effect and bottleneck
28. · Stochastic nature of drift
29. · Long-term consequences
30. · Founder effect
31. · Population bottleneck
32. Non-random mating and inbreeding
33. · Non-random mating types
34. · Inbreeding coefficient (F)
35. · Effect on genotypic frequencies
36. · Wright F-statistics
37. Natural selection and mutation-selection balance
38. · Biological efficacy and selection coefficient
39. · Mutation-selection balance
40. · Heterozygote advantage and balanced polymorphism
41. · Linkage disequilibrium
42. Multifactorial Genetics
43. Concept of multifactorial and polygenic inheritance
44. · Fundamental differences regarding Mendelian inheritance
45. Continuous and discontinuous characters
46. · Continuous or quantitative characters
47. · Threshold or quasi-continuous characters
48. Threshold model (liability threshold)
49. · Model postulates
50. · Model predictions
51. Heritability and variance partitioning
52. · Partition of the phenotypic variance
53. · Heritability in the strict and broad sense
54. · Interpretive precautions
55. Methods to estimate heritability
56. · 1. Family studies
57. · 2. twin studies
58. · 3. Adoption studies
59. · 4. Modern genomic methods
60. Risk of recurrence in multifactorial diseases
61. · Edwards' approximate rule
62. · Characteristics of the risk of recurrence
63. Clinical catalog of multifactorial diseases
64. · Multifactorial congenital malformations
65. · Chronic diseases of adults
66. · Congenital heart disease: the multifactorial model par excellence
67. · Psychiatric disorders
68. GWAS, polygenic scores and personalized medicine
69. · Genomic association studies (GWAS)
70. · Representative findings
71. · Polygenic risk scores (PRS)
72. · Missing heritability and genetic architecture
73. · Gene-environment interactions
74. · Genetic counseling in multifactorial diseases
75. · Epilogue