The basics of genetic pathology; Classification of genetic pathology



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  1. The basics of genetic pathology;

  2. Classification of genetic pathology;

  3. Mutation (type of mutation:silent; missense- mechanism);

  4. Mutation (type of mutation: nonsense; frame-shift, dynamic - mechanism);

  5. Pedigree Analysis (symbols, risk of hereditary );

  6. Autosomal dominant condition. Characteristic;

  7. Autosomal recessive condition. Characteristic;

  8. X-linked inheritance. Characteristic;

  9. Multifactorial conditions;

  10. Congenital anomalies. Epidemiology and classification;

  11. Definitions of the malformation, disruption, deformation; dysplasia, syndrome, association.

  12. Teratogens, teratogenic agents, critical period of exposurre during organogenesis.

  13. Chromosome definitions. Chromosome structure, chromosomes number

  14. The cell cycle (meiosis);

  15. Gametogenesis: oogenes and spermatogenesis;

  16. Methods of chromosome analysis(chromosome preparation, banding, analysis).

  17. DNA and mitochondrial DNA. Gene structure.

  18. Molecular-genetics methods using in medical genetics: cloning a gene,

  19. Molecular-genetics methods using in medical genetics: sequencing the gene,

  20. Molecular-genetics methods using in medical genetics : polymerise chain reaction

  21. Linkage analysis. RFLP. Restriction enzymes.

  22. DNA diagnosis direct and indirect.

  23. Human karyotype. Classification of chromosome abnormalities;

  24. Numerical abnormalities of chromosome;

  25. Structural abnormalities of chromosome (translocation- receprocal translocations and robertsonian translocations);

  26. Structural abnormalities of chromosome (deletions, inversions- pericentric, paracentric);

  27. Structural abnormalities of chromosome (ring chromosomes and isochromosomes);

  28. Down’s syndrome (trisomy 21): incidence, clinical features, recurrence risk;

  29. Turner’s syndrome (45,X): clinical features, chromosome findings;

  30. Klinfelter’s syndrome (47,XXY): clinical features, chromosome findings;

  31. Trisomy 13 (Patau’s syndrome)

  32. Trisomy 18 (Edward’s syndrome) clinical features;

  33. Portions aneuploidy (cri-du-chat(5p-), Wolf-Hirschhorn (4p) syndromes);

  34. Microdeletion syndromes (Angelman Syndromes, Prader-Willi Syndromes);

  35. The fragile X syndrome: incidence, clinical features, the molecular defect.

  36. Singel gene (mendelian) inheritance. Definitions, reduced penetrance, variable expressivity, variation in age of onset,

  37. Genetic heterogeneity, phenocopy, variation in severity dependent on sex.

  38. Phenylketonuria- incidence, clinical features, mode of inheritance and preventions.

  39. Congenital adrenal hyperplasia- incidence, clinical features, mode of inheritance

  40. Familial hypercholesterolaemia- incidence, clinical features, mode of inheritance

  41. Neurofibromatosis- incidence, clinical features, mode of inheritance, mapping, NF1, NF2.

  42. Cystic fibrosis- incidence, clinical features, confirmation of diagnosis, mapping, mutations in the CF gene, gene product, clinical applications.

  43. Duchenne muscular dystrophy- incidence, clinical features, mode of inheritance, confirmation of diagnosis, carrier females, mapping, mutations in the DMD gene, gene product, clinical applications.

  44. Sindrom Marfan- incidence, clinical features, mode of inheritance, confirmation of diagnosis, mapping, clinical applications.

  45. Sindrom Ehlers-Danlos- incidence, clinical features, mode of inheritance, confirmation of diagnosis, mapping, clinical applications.

  46. Hemophilia A and B- incidence, clinical features, mode of inheritance, confirmation of diagnosis, carrier females, mapping, mutations in the gene, gene product, clinical applications.

  47. Techniques used in prenatal diagnosis.

  48. Indications for prenatal diagnosis;

  49. Criteria for a screening programme,

  50. Prenatal screening programmes;

  51. Primary prevention.

  52. Secondary prevention.

  53. Sceening program( AFP- alfa fetoprotein, human chorionic gonadotropin),

  54. Sceening for fetal anomalies using ultrasound,

  55. Diagnostic fetal interventions

  56. Studies performed on fetal cells: CYTOGENETICS, BIOCHEMICAL TEST, MOLECULAR ANALYSIS.

  57. Carrier testing

  58. Presymptomatic diagnosis

  59. Ethical considerations. General principles.

  60. Predictive testing.






Test 1


  1. The basics of genetic pathology;

  2. Methods of chromosome analysis (chromosome preparation, banding, analysis).

  3. Structural abnormalities of chromosome (ring chromosomes and isochromosomes);

  4. Cystic fibrosis- incidence, clinical features, confirmation of diagnosis, mapping, mutations in the CF gene, gene product, clinical applications.

  5. Sceening program( AFP- alfa fetoprotein, human chorionic gonadotropin),






Test 2


  1. Mutation (type of mutation:silent; missense- mechanism);

  2. Chromosome definitions. Chromosome structure, chromosomes number;

  3. Turner’s syndrome (45,X): clinical features, chromosome findings;

  4. Single gene (mendelian) inheritance. Definitions, reduced penetrance, variable expressivity, variation in age of onset,

  5. Primary prevention






Test 3


  1. Classification of genetic pathology;

  2. The cell cycle (meiosis);

  3. Trisomy 18 (Edward’s syndrome) clinical features;

  4. Phenylketonuria- incidence, clinical features, mode of inheritance and preventions.

  5. Secondary prevention.



Test 4


  1. Mutation (type of mutation: nonsense; frame-shift, dynamic - mechanism);

  2. Molecular-genetics methods using in medical genetics : polymerise chain reaction

  3. Down’s syndrome (trisomy 21): incidence, clinical features, recurrence risk;

  4. Genetic heterogeneity, phenocopy, variation in severity dependent on sex.

  5. Indications for prenatal diagnosis;






Test 5


  1. Autosomal dominant condition. Characteristic;

  2. DNA and mitochondrial DNA. Gene structure;

  3. Klinfelter’s syndrome (47,XXY): clinical features, chromosome findings;

  4. Familial hypercholesterolaemia- incidence, clinical features, mode of inheritance

  5. Prenatal screening programmes;






Test 6


  1. Autosomal recessive condition. Characteristic;

  2. Molecular-genetics methods using in medical genetics: cloning a gene;

  3. Trisomy 13 (Patau’s syndrome)

  4. Duchenne muscular dystrophy- incidence, clinical features, mode of inheritance, confirmation of diagnosis, carrier females, mapping, mutations in the DMD gene, gene product, clinical applications.

  5. Carrier testing






Test 7


  1. Pedigree Analysis (symbols, risk of hereditary );

  2. Molecular-genetics methods using in medical genetics: sequencing the gene;

  3. Portions aneuploidy (cri-du-chat(5p-), Wolf-Hirschhorn (4p) syndromes

  4. Sindrom Marfan- incidence, clinical features, mode of inheritance, confirmation of diagnosis, mapping, clinical applications.

  5. Studies performed on fetal cells: CYTOGENETICS, BIOCHEMICAL TEST, MOLECULAR ANALYSIS.






Test 8


  1. X-linked inheritance. Characteristic;

  2. Linkage analysis. RFLP. Restriction enzymes.

  3. Microdeletion syndromes (Angelman Syndromes, Prader-Willi Syndromes);

  4. Congenital adrenal hyperplasia- incidence, clinical features, mode of inheritance

  5. Diagnostic fetal interventions




Test 9


  1. Definitions of the malformation, disruption, deformation; dysplasia, syndrome, association.

  2. Linkage analysis. RFLP. Restriction enzymes.

  3. The fragile X syndrome: incidence, clinical features, the molecular defect.

  4. Sindrom Ehlers-Danlos- incidence, clinical features, mode of inheritance, confirmation of diagnosis, mapping, clinical applications.

  5. Presymptomatic diagnosis






Test 10


  1. Teratogens, teratogenic agents, critical period of exposurre during organogenesis.

  2. Gametogenesis: oogenes and spermatogenesis;

  3. Turner’s syndrome (45,X): clinical features, chromosome findings;

  4. Hemophilia A and B- incidence, clinical features, mode of inheritance, confirmation of diagnosis, carrier females, mapping, mutations in the gene, gene product, clinical applications.

  5. Indications for prenatal diagnosis;






Test 11


  1. Multifactorial conditions;

  2. Molecular-genetics methods using in medical genetics : polymerise chain reaction;

  3. Microdeletion syndromes (Angelman Syndromes, Prader-Willi Syndromes);

  4. Sindrom Marfan- incidence, clinical features, mode of inheritance, confirmation of diagnosis, mapping, clinical applications.

  5. Techniques used in prenatal diagnosis.






Test 12


  1. Congenital anomalies. Epidemiology and classification

  2. DNA and mitochondrial DNA. Gene structure.

  3. The fragile X syndrome: incidence, clinical features, the molecular defect.

  4. Hemophilia A and B- incidence, clinical features, mode of inheritance, confirmation of diagnosis, carrier females, mapping, mutations in the gene, gene product, clinical applications.

  5. Techniques used in prenatal diagnosis.





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