Non-Mendelian Inheritance — Genetics

Genetics · Basic Sciences

How it begins

Exhaustive, expert-level analysis of all inheritance mechanisms that transcend Mendel's laws: sex-linked inheritance, mitochondrial, genomic imprinting, repeat expansion, mosaicism, transgenerational epigenetic inheritance and multifactorial inheritance, with their clinical and molecular correlations.

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