Медицина · 4 курс · МУ Пловдив
Медицинска генетика
Целият конспект на МУ Пловдив по Медицинска генетика, медицина, 4 курс: 33 теми, 8 теми с безплатна записка (31 минути четене), и 73 флашкарти. Обновено на 13 ноември 2026 г.
- теми в конспекта
- 33
- безплатни записки
- 8
- флашкарти
- 73
- четене
- 31 мин
Конспект
Темите в реда на конспекта на МУ Пловдив. Всяка тема със записка се отваря в AceMed, щом влезеш в профила си.
- 1. Material basis of heredity. Nucleic acids. Proteins. Gene – structure and function, mechanisms of gene regulation. Genetic code.Подготвя се
- 2. Molecular and subcellular organization of human chromosomes. Karyotype.8 мин · 15 флашкарти
- 3. Gene mutations. Mutagenic factors. Importance of mutagenesis.Подготвя се
- 4. Main disorders of the karyotype. Mechanisms of occurrence of chromosomal aberrations, designation.Подготвя се
- 5. Chromosomal diagnostics – methods (direct and indirect). Banding techniques – diagnostic possibilities. Chromosomal polymorphism. Heterochromatin markers. Sex chromatin – essence, diagnostic value.Подготвя се
- 6. DNA analysis. PCR. Southern blot. Mutation analysis. DNA sequencing.Подготвя се
- 7. Chromosomal pathology. Chromosomal diseases associated with numerical aberrations of autosomes, complete and mosaic forms. Medical genetic consultation (MGC).4 мин · 14 флашкарти
- 8. Chromosomal pathology. Chromosomal diseases associated with structural aberrations of autosomes. Partial monosomies and trisomies. Microdeletion syndromes. Subtelomeric aberrations. Molecular cytogenetics.Подготвя се
- 9. Chromosomal pathology. Chromosomal diseases associated with aberrations of gonosomes, MGC.Подготвя се
- 10. Sex determination and differentiation. Male and female pseudohermaphroditism, true hermaphroditism. Examples.Подготвя се
- 11. Autosomal dominant type of inheritance – clinical and genetic patterns, features, examples. MGС.13. Sex-linked type of inheritance (X-recessive and X-dominant). Clinical-genetic patterns, examples, MGС. Sex-dependent traits.1 мин
- 12. Autosomal recessive type of inheritance – clinical and genetic patterns. Examples. MGC.13. Sex-linked type of inheritance (X-recessive and X-dominant). Clinical-genetic patterns, examples, MGС. Sex-dependent traits.1 мин
- 13. Sex-linked type of inheritance (X-recessive and X-dominant). Clinical-genetic patterns, examples, MGС. Sex-dependent traits.1 мин
- 14. Heterogeneous diseases – essence, examples, clinical-genetic polymorphism.4 мин · 15 флашкарти
- 15. Multifactorial type of inheritance - clinical-genetic patterns, examples, MGC. Diseases with hereditary predisposition.Подготвя се
- 16. Non-Mendelian type of inheritance – types. Dynamic mutations. Triplet repeat expansion – essence, examples, clinical-genetic characteristics. MGC.Подготвя се
- 17. Non-Mendelian type of inheritance – types. Genetic imprinting – essence, examples, clinical-genetic characteristics. MGC.Подготвя се
- 18. Mitochondrial genome. Mitochondrial type of inheritance – essence, examples, clinical-genetic characteristics. MGC.Подготвя се
- 19. Cystic fibrosis - clinical-genetic characteristics, MGC.Подготвя се
- 20. Phenylketonuria - clinical and genetic characteristics, treatment, MGС. Other hereditary aminoacidurias. Mass screening for hereditary diseases in newborns.Подготвя се
- 21. Hemophilia - types, clinical and genetic characteristics, MGС.Подготвя се
- 22. Duchenne and Becker muscular dystrophy. Clinical and genetic characteristics, MGС.Подготвя се
- 23. Enzymopathies and lysosomal storage diseases - lipidoses, mucopolysaccharidoses, glycogenoses. Clinical and genetic characteristics, MGС.Подготвя се
- 24. Hereditary diseases of lipid metabolism. Hyperlipidemias. Types. Clinical and genetic characteristics, MGС.Подготвя се
- 25. Defects of purine metabolism, clinical and genetic characteristics, MGС.6 мин · 14 флашкарти
- 26. Polycystic kidney disease - types, clinical and genetic characteristics, MGС.Подготвя се
- 27. Hereditary collagen diseases – examples, clinical and genetic characteristics, MGС.Подготвя се
- 28. Hemoglobin. Hemoglobinopathies and hemoglobinoses - clinical and genetic characteristics, MGС.Подготвя се
- 29. Hereditary metal diseases. Hemochromatosis. Wilson-Konovalov disease. Clinical and genetic characteristics, MGС.6 мин · 15 флашкарти
- 30. Pharmacogenetics. Pharmacogenetic defects and pharmacogenetic polymorphism. Glucose-6- phosphate dehydrogenase. Clinical and genetic characteristics, MGС.Подготвя се
- 31. Oncogenetics. Oncogenes and tumor suppressor genes. Chromosomal markers in leukemias, lymphomas and myelodysplastic conditions. Diagnostics. Prognostic significance, relation to therapeutic behavior.Подготвя се
- 32. Prevention and therapy of hereditary pathology - basic approaches. Medical genetic consultation - essence, indications, tasks. Prenatal diagnosis - methods, indications.Подготвя се
- 33. Screening for hereditary diseases and defects: mass and selective, prenatal and postnatal.Подготвя се
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