Medical Genetics at a Glance Book

Section I: Overview

1. The place of genetics in medicine

Section II: The Mendelian approach

2. Pedigree drawing

3. Mendel’s laws

4. Principles of autosomal dominant inheritance, and Pharmacogenetics

5. Autosomal dominant inheritance, clinical examples

6. Autosomal recessive inheritance, principles

7. Consanguinity and major disabling autosomal recessive conditions

8. Autosomal recessive inheritance, life threatening conditions

9. Aspects of dominance

10. X-linked and Y-linked inheritance

11. X-linked inheritance, clinical examples

12. Mitochondrial inheritance

13. Risk assessment in Mendelian conditions

Section III: Basic cell biology

14. The cell

15. The chromosomes

16. The cell cycle

17. Biochemistry of the cell cycle

18. Gametogenesis

Section IV: Basic molecular biology

19. DNA structure

20. DNA replication

21. The structure of genes

22. Production of messenger RNA

23. Non-coding RNA

24. Protein synthesis

Section V: Genetic variation

25. Types of genetic alterations

26. Mutagenesis and DNA repair

27. Genomic imprinting

28. Dynamic mutation

29. Normal polymorphism

30. Allele frequency

Section VI: Organization of the human genome

31. Genetic linkage and genetic association

32. Physical gene mapping

33. Gene identification

34. Clinical application of linkage and association

Section VII: Cytogenetics

35. Chromosome analysis

36. Autosomal aneuploidies

37. Sex chromosome aneuploidies

38. Chromosome structural abnormalities

39. Chromosome structural abnormalities, clinical examples

40. Contiguous gene and single gene syndromes

Section VIII: Embryology and congenital abnormalities

41. Human embryology in outline

42. Body patterning

43. Sexual differentiation

44. Abnormalities of sex determination

45. Congenital abnormalities, pre-embryonic, embryonic and of intrinsic causation

46. Congenital abnormalities arising at the foetal stage

47. Development of the heart

48. Cardiac abnormalities

49. Facial development and dysmorphology

Section IX: Multifactorial inheritance and twin studies

50. Principles of multifactorial disease

51. Multifactorial disease in children

52. Common disorders of adult life

53. Twin studies

Section X: Cancer

54. The signal transduction cascade

55. The eight hallmarks of cancer

56. Familial cancers

57. Genomic approaches to cancer management

Section XI: Biochemical genetics

58. Disorders of amino acid metabolism

59. Disorders of carbohydrate metabolism

60. Heavy metal transport, lipid metabolism and amino acid catabolism

defects

61. Disorders of porphyrin and purine metabolism and the urea/ornithine cycle

62. Lysosomal, glycogen storage and peroxisomal diseases

63. Biochemical diagnosis

Section XII: Immunogenetics

64. Immunogenetics, cellular and molecular aspects

65. Genetic disorders of the immune system

66. Autoimmunity, HLA and transplantation

Section XIII: Molecular diagnosis

67. DNA hybridization-based analysis systems

68. DNA sequencing

69. The polymerase chain reaction

70. DNA profiling

Section XIV: Genetic counselling, disease management, ethical and social issues

71. Reproductive genetic counselling

72. Prenatal sampling

73. Avoidance and prevention of disease

74. Management of genetic disease

75. Ethical and social issues in clinical genetics

Self-assessment case studies: questions

Self-assessment case studies: answers

Glossary

Appendix: information sources and resources

Index