Portal:Exam Topics in Biology and Medical Genetics (1. LF UK, GM)

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see also current list of exam topics at the website of Institute of Biology and Medical Genetics

Current list of exam questions - valid from 2014/2015 academic year

  1. Fundamental laws of genetics
  2. Dihybridism
  3. Additive model of polygenic inheritance
  4. Interaction of non-allelic genes
  5. Genetic linkage
  6. Genotype variation, mutations and recombination
  7. Gene-environment interactions
  8. Inheritance of multifactorial traits and diseases in man
  9. Heritability, methods and importance of its assessment in medicine
  10. Multifactorial diseases, disorders, and traits in man
  11. Genealogical method
  12. Autosomal dominant inheritance in pedigree and experiment, examples of traits in man
  13. Autosomal recessive inheritance in pedigree and experiment, examples of traits in man
  14. Gonosomal inheritance in pedigree and experiment, examples of traits in man
  15. Twins and twin studies in genetics
  16. Genetic methods of linkage analysis
  17. Genetic methods of association analysis
  18. Genetic analysis methods in experimental and human genetics
  19. Genetic mapping in man
  20. Genetic maps and their importance
  21. Structure and function of eukaryotic cell
  22. The cell cycle, its regulation and disturbances
  23. Cell signaling
  24. Mitosis, its regulation and disturbances
  25. Meiosis, its regulation and disturbances
  26. Crossing-over, its mechanism and importance
  27. Gametogenesis
  28. Extranuclear inheritance
  29. Non-Mendelian inheritance
  30. Structure and types of the eukaryotic chromosomes
  31. Methods of chromosomal examination
  32. Molecular cytogenetics
  33. Human karyotype, methods of its examination
  34. Abnormalities in chromosome number, their causes and clinical presentation in man
  35. Abnormalities in chromosome structure, their causes and clinical presentation in man
  36. Germ cell and somatic cell chromosome mutations
  37. Etiology of chromosomal aberrations
  38. Autosomal aneuploidy syndromes in man
  39. Gonosomal aneuploidy syndromes in man
  40. Indications for chromosome analysis in clinical genetics
  41. DNA - structure and function
  42. RNA - types, structure and function
  43. DNA replication
  44. Transcription, post-transcriptional processing of RNA in eukaryotes
  45. Translation, post-translational processing of proteins in eukaryotes
  46. The genetic code
  47. Structure and function of a gene
  48. Protein coding and non-coding sequences of DNA
  49. Regulation of transcription in eukaryotes
  50. Translation of membrane and secretory proteins (protein sorting, targeting)
  51. Regulation of gene expression in eukaryotes
  52. Epigenetics, genetic imprinting
  53. Polymorphisms of nucleic acids
  54. Methods of nucleic acid analysis
  55. Recombinant DNA and genetic engineering
  56. Gene mutations, types and manifestation
  57. Mutagens and mutagenesis, mutagenicity testing
  58. Reparation mechanisms of the cell and their genetic control
  59. Reparation mechanisms of nucleic acids
  60. Molecular basis of genetic diseases
  61. Proteins and their function, genetic polymorphism of proteins
  62. Genetics of human hemoglobins
  63. Hemoglobinopathies
  64. Inborn errors of metabolism
  65. Genetic information of mitochondria, mitochondrial diseases
  66. Direct diagnostics of hereditary diseases by nucleic acid analysis
  67. Indirect diagnostics of hereditary diseases by nucleic acid analysis
  68. Physical mapping of DNA
  69. Map of human genome, Human Genome Project, results and significance
  70. Gene therapy - principles, current possibilities, perspectives
  71. Principles of therapy of heritable diseases
  72. Genetics and clinical importance of blood group systems
  73. Genetics and clinical importance of Rh system
  74. The cells of immune system, immunophenotyping
  75. Genetic control of immune response
  76. Genetic control of antibody production
  77. Immune response (antigen recognition, cell cooperation)
  78. Genetics of immunoglobulins, B-cell and T-cell receptors
  79. Genetics of transplantations, transplantation rules, histocompatibility systems
  80. Major histocompatibility complex of man
  81. Immunotolerance and possibilities of its induction
  82. Genetic aspects of immune system function related to cancer
  83. Hereditary immunodeficiencies
  84. Structure and function of the prokaryotic cell
  85. Importance and structure of prokaryotic chromosomes
  86. Biology and genetics of bacteria, importance in medicine
  87. Regulation of gene expression in prokaryotes
  88. Transcription and translation in prokaryotes
  89. Conjugation, transformation, transduction
  90. Biology and genetics of viruses, importance in medicine
  91. Ontogenesis and its genetic control
  92. Genetic determination of body plan in development
  93. Chromosomal determination of sex
  94. Ontogenesis of sex in mammals and its disturbances
  95. Apoptosis, clinical outcomes of its dysregulation
  96. Apoptosis, genetic control and importance in development
  97. Genetic aspects of aging and death
  98. Teratogenesis, teratogens
  99. Environmental mutagens and teratogens
  100. Inborn errors of development in human, examples, classification
  101. Genetic aspects of populations, Hardy-Weinberg equilibrium
  102. Selection, its types
  103. Inbreeding, consanguineous marriages and their risks
  104. Population polymorphisms and their causes
  105. Mutations in population genetics, frequency of mutations
  106. Migration, gene flow
  107. Structure of populations, genetic drift, importance for evolution
  108. Characteristics of cancer cells
  109. Characteristics of tumor growth
  110. Causes of tumors, carcinogenesis, carcinogens
  111. Proto-oncogenes, oncogenes
  112. Tumor suppressor genes
  113. Mutator genes, genome stability
  114. Chromosomal aberrations in cancer cells
  115. Hereditary cancer, cancer in families
  116. Genetics in presymptomatic diagnostics and prevention of cancer
  117. Gene therapy of cancer
  118. Genetic mechanisms of evolution
  119. Species and speciation
  120. Evolution of genes and genomes
  121. Origin and evolution of species
  122. Evolution of Homo sapiens
  123. Aims of medical genetics
  124. Ethical and legal aspects of medical genetics
  125. Genetic consultation and it importance
  126. Postnatal screening of heritable diseases
  127. Prenatal screening of inborn errors of development
  128. Prenatal diagnostics of heritable diseases, possibilities of prevention
  129. Prenatal diagnostics of chromosomal aberrations, possibilities of prevention
  130. Prenatal diagnostics of inborn errors of development, possibilities of prevention
  131. Pre-conception prevention of heritable and inborn diseases
  132. Postnatal prevention and therapy of heritable and inborn diseases
  133. Ecology, ecogenetics
  134. Pharmacogenetics, nutrigenetics