MEDICAL GENETICS – QUESTIONS FOR ORAL EXAM

1. RNA interference mechanisms. Application. miRNA. 2. Protein coding gene structure. DNA in the nucleus. Mitochondrial DNA. 3. RNA genes. Ribosomal RNA genes. tRNA genes. 4. The types of DNA mutations and chromosomal aberrations. 5. Fragile X-chromosome. 6. The main disorders of sex differentiation. 7. Types of hemoglobin. Sickle cell anemia. 8. Hemoglobin genes. Thalassemias. 9. Phenylketonuria. Oculocutaneous albinism. 10. Disorders of carbohydrates metabolism. 11. Disorders of steroid metabolism. Sphingolipidoses. 12. Familial hypercholesterolemia. Mitochondrial diseases. 13. Prenatal diagnostics. 14. Ultrasonography. Amniocentesis and chorionic villus sampling. 15. Nuhal translucency in prenatal diagnostics. Triple and quadruple tests. 16. Indications for prenatal diagnostics. Specific problems in prenatal diagnostics. 17. Gene therapy. 18. Epigentic mechanisms. 19. Telomeres and telomerase. 20. Human chromosomes: morphology, classification, abnormalities (numerical and structural) 21. Human genome project and next generation sequencing. 22. iPS and CRISPR. 23. Pharmacogenetics. The importance of N-acetyl transferase and G6PD. Malignant hypertermia. 24. Pharmacogenetics. 25. Protooncogens. Viral and cellular oncogens. 26. Tumor suppressor genes. Retinoblastoma gene. 27. TP53. BRCA1 and BRCA2. 28. Colorectal carcinoma – genetics and mutational dynamics. DNA missmatch repair proteins. 29. Developmental genes: TGFβ, Sonic Hedgehog and notch-delta signaling 30. Homeobox and Pax genes 31. FGF receptors and Zinc finger genes in human development 32. Hydatiform Mole. Sexual differentiation. 33. Reduced penetrance. Pseudodominance. Locus heterogeneity. 34. Anticipation. Mosaicism. Uniparental disomy. 35. Angelman and Prader-Willy syndrome. 36. Cloning. Plasmid DNA. Recombinant DNA usage. 37. “Knock out” mice technology. 38. Chromosomal analysis: FISH, CGH, karyogram. 39. DNA analysis: Sequencing, Southern blot, MLPA, QF-PCR, RFLP. 40. Diabetes mellitus – types and development 41. Alzheimer disease. Crohn disease. Coronary artery disease. 42. Huntington disease. Miotonic dystrophy. 43. Hereditary motor and sensory neuropathy. Neurofibromatosis. 44. Marfan syndrom. Inhereted cardiac arrhythmias and cardiomyopathies.

45. Cistic fibrosis. Hemophilia. 46. Duchenne muscular distrophy. Spinal muscular atrophy. 47. PCR method 48. Definition and classification of birth defects. 49. Teratogens. Examples. 50. Down syndrome. 51. Patau and Edwards syndromes. Klinefelter and Turner syndromes.