Medical Genetics
First Year First Semester Program (Revised in December, 2014)
1. Chromosome segregation and behavior.
2. The human chromosomes
3. The Human Genome; Gene organization and Structure
4. Techniques of chromosomes analysis.
5. Staining methods for chromosome analysis
6. Genetic analyses of quantitative traits
7. Life cycle of a somatic cell
8. Mitosis
9. Meiosis
10. Human gametogenesis
11. Numerical abnormalities
12. Structural abnormalities
13. Clinical indications for chromosome analysis
14. Disorders of autosomes
15. Down syndrome
16. Trisomy 18
17. Trisomy 13
18. Autosomal deletion syndromes
19. The chromosomal basis for sex determination
20. The Sex Chromosome
21. The X chromosome.
22. Lyon hypothesis
23. Clinical disorders of sex chromosomes
24. Klinefelter syndrome (47, XXY)
25. 47, XYY syndrome
26. Trisomy X
27. Turner syndrome ( 45, X)
28. True hermaphroditism
29. Pseudohermaphroditism
30. Autosomal dominant inheritance
31. Autosomal recessive inheritance
32. Consanguinity
33. X-linked inheritance
34. Fragile X syndrome
35. Aspects of phenotypic expression
36. Penetrance
37. Variable expressivity
38. Anticipation
39. Pleotropy
40. Sex-limited and sex-influenced phenotypes
41. Mitochondrial inheritance
42. Mosaicism
43. Genomic imprinting
44. Uniparental disomy
45. Clinical importance of polymorphism
46. Paternity testing
47. Blood typing
48. Tissue typing
49. Polymorphism and Genetic markers
50. Continuous variation
51. Multifactorial threshold trains
52. Complex disorders of adult life
53. Gene and Environment to Complex Disease
54. Linkage
55. Genetic Basis for linkage
56. Measurement of genetic linkage
57. Linkage Disequilibrium, Synteny
58. Clinical applications of linkage
59. Gene mapping
60. Types of gene maps. Importance of gene mapping
61. The hardy-weinberg law for autosomal dominant conditions
62. The hardy-weinberg law for autosomal recessive conditions
63. The hardy-weinberg law for X-linked conditions
64. Genetic load
65. Gene Families, Pseudogenes
66. Locus Heterogeneity; Allelic heterogeneity
67. Mutation-selection equilibrium
68. Eugenics
69. Principles of clinical teratology
70. Teratogenic factors
71. Mutagenesis
72. Dynamic Mutation. Huntington Disease
73. Clinical importance of environmental mutagens
74. Dysporphology. Types of anomalies
75. Diagnostic techniques
76. Genetic Markers
77. Maternal serum screening
78. Indications for prenatal diagnosis. The counseling process
79. Indications for genetic counseling
80. Genetic screening
81. Calculating genetic risks. Bayesian method
82. Methods of treating genetic disease