Genetics: Mendelian Inheritance

Genetics · Basic Sciences

How it begins

Análisis exhaustivo de los principios fundamentales de la transmisión genética: desde las leyes de Mendel hasta las extensiones del modelo mendeliano, patrones de herencia, análisis de pedigríes y correlaciones clínicas en genética médica.

What it covers

1. Introduction: Gregor Mendel and the Birth of Genetics
2. · Medical Relevance of Mendelian Genetics
3. Fundamental Concepts of Mendelian Genetics
4. · Terminology of Allelic Variants
5. Mendel's Laws: Formulation and Molecular Basis
6. · 3.1 First Law: Principle of Segregation
7. · 3.2 Second Law: Principle of Independent Segregation
8. · 3.3 Extension: The Third Law (Not formulated by Mendel)
9. Autosomal Dominant Inheritance (AD)
10. · 4.1 Molecular Mechanisms of Dominance
11. · 4.2 Crossing in AD Inheritance
12. Autosomal Recessive Inheritance (AR)
13. · 5.1 Classic Crossing in AR
14. · 5.2 Compound Heterozygote
15. · 5.3 Hardy-Weinberg Equilibrium and Carrier Frequency
16. · 5.4 Heterozygote Advantage and Maintenance of Recessive Alleles
17. X-Linked Recessive Inheritance (XLR)
18. · 6.1 XLR crossovers
19. · 6.2 X Inactivation (Lionization) and Its Clinical Consequences
20. Inheritance Linked to the Dominant X Chromosome (XLD)
21. Y-Linked (Dutch) Inheritance and Mitochondrial Inheritance
22. · 8.1 Y-Linked Inheritance (Dutch)
23. · 8.2 Mitochondrial Inheritance
24. Extensions of the Classical Mendelian Model
25. · 9.1 Incomplete Dominance (Semi-dominance)
26. · 9.2 Codominance
27. · 9.3 Multiple Alleles
28. · 9.4 Lethal Alleles
29. Penetrance, Expressiveness and Pleiotropy
30. · 10.1 Penetrance
31. · 10.2 Expressiveness
32. · 10.3 Pleiotropy
33. · 10.4 Genetic Anticipation
34. Epistasis, Gene Complementation and Genetic Heterogeneity
35. · 11.1 Epistasis
36. · 11.2 Gene Complementation
37. · 11.3 Genetic Heterogeneity
38. Pedigree Analysis: Methodology and Symbology
39. · 12.1 Standard Symbology in Pedigrees
40. · 12.2 Keys to Diagnosing the Inheritance Pattern
41. · 12.3 Illustrative Pedigrees with SVG Diagrams
42. · 12.4 Obligated Carrier
43. Genetic Counseling: Calculation of Reproductive Risks and Decisions
44. · 13.1 Principles of the Genetic Council
45. · 13.2 Probability Calculation in Mendelian Genetics
46. · 13.3 Recurrence Risk Tables by Pattern
47. · 13.4 Reproductive Options in the Genetic Council
48. Special Genetic Phenomena with Clinical Relevance
49. · 14.1 Genomic Imprinting
50. · 14.2 Mosaicism
51. · 14.3 Inbreeding and Inbreeding Coefficient
52. · 14.4 Allele-Dependent Phenotypic Heterogeneity: Genotype-Phenotype Relationship
53. · 14.5 Molecular Diagnosis in the Genomic Era
54. Integrative Summary: Patterns of Mendelian Inheritance