Non-Mendelian Inheritance — Genetics

Genetics · Basic Sciences

How it begins

Análisis exhaustivo y de nivel experto de todos los mecanismos de herencia que trascienden las leyes de Mendel: herencia ligada al sexo, mitocondrial, imprinting genómico, expansión de repeticiones, mosaicismo, herencia epigenética transgeneracional y herencia multifactorial, con sus correlaciones clínicas y moleculares.

What it covers

1. Limits of the Mendelian Paradigm and Foundations of Non-Mendelian Inheritance
2. Essential Previous Concepts
3. · Fundamental terminology
4. X-Linked Inheritance
5. · Fundamentals of X-linked inheritance
6. · Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)
7. · Fragile X syndrome (FXS) — X-linked inheritance with repeat expansion
8. Inactivation of the X Chromosome — Lyon Hypothesis
9. · Principles of X inactivation
10. Y-Linked Inheritance (Dutch)
11. · The Y chromosome and its inheritance
12. Pseudoautosomal Regions (PAR)
13. Mitochondrial Inheritance: Genome, Heteroplasmy and Transmission
14. · The mitochondrial genome (mtDNA)
15. · Heteroplasmy
16. · The mitochondrial bottleneck
17. Main Mitochondrial Diseases
18. Genomic Imprinting: Molecular Bases
19. · Definition and discovery
20. · Molecular mechanism of imprinting
21. Prader-Willi and Angelman syndromes — Imprinting in 15q11-q13
22. Beckwith-Wiedemann and Silver-Russell — Imprinting in 11p15.5 and growth imprinting
23. · Beckwith-Wiedemann Syndrome (BWS)
24. · Silver-Russell Syndrome (SRS)
25. Other Imprinting Syndromes
26. Uniparental Disomy (UPD)
27. · Definition, types and mechanisms of origin
28. · Clinical consequences of UPD
29. Trinucleotide Repeat Expansion Diseases and Others
30. · Pathogenic mechanisms of repeat expansions
31. · Main expansion diseases
32. Genetic Anticipation
33. · Definition and mechanism
34. Somatic and Germinal Mosaicism
35. · Types and origin of mosaicism
36. Transgenerational Epigenetic Inheritance
37. · Can epigenetic changes be inherited?
38. Multifactorial and Polygenic Inheritance
39. · The quantitative model of inheritance
40. · Heritability (h²)
41. Threshold Model for Multifactorial Dichotomous Diseases
42. · Falconer's model
43. GWAS and Genetic Architecture of Complex Diseases
44. · Genome-wide association studies (GWAS)
45. · Polygenic risk scores (PRS)
46. Codominance, Incomplete Dominance and Epistasis
47. · Beyond simple dominance
48. Penetrance, Variable Expressivity and Pleiotropy
49. · Incomplete penetration and its causes
50. · Pleiotropy
51. Dynamic Mutation and Genomics of Mosaics
52. · Dynamic mutation
53. · Mosaic variant genomics (somatic mosaicism genomics)
54. Clinical Implications and Genetic Advice in Non-Mendelian Inheritance
55. · Principles of genetic counseling in non-Mendelian situations