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Genetics1. Define the characteristics of human Mendelian and characterize the types of inheritance 2. Show, identify and characterize the allelic genes, allelic forms of interaction between genes. 3. Show and describe multiple alleles in the sample of wool dyeing rabbits and write their genotypes and phenotypes. 4. Show, identify and characterize genes and nonallelic forms of interaction. 5. Show and describe multiple alleles in the sample of blood groups of ABO system. 6. Describe and demonstrate the phenotypic manifestation of gene action in the form of penetrance, expressivity, pleiotropy. 7. Describe the genetics (genes, genotypes) blood groups ABO system of 8. Characterize and autosomal sex-linked inheritance of characteristics 9. Show and describe the independent inheritance of genes (features) in the crossing of two individuals digeterozigotes 10. Show and describe the linked inheritance of genes (features) in the crossing of two individuals digeterozigotes 11. Show and describe analyzing cross digeterozigote individuals with independent and linked inheritance of genes (features) 12. Show and explain the classification of congenital malformations, for reasons of prevalence and teratogenic effects of time factors 13. Give a mathematical expression and explain the essence of the law of Hardy-Weinberg 14. Identify the demographics and explain their impact on the change in the genetic structure of populations 15. List the basic evolutionary processes and explain their impact on the change in the genetic structure of populations 16. To form the concept of genetic load of populations, explain the reasons for its occurrence and clinical significance 17. List the main types of trisomies in humans and explain the mechanisms of their occurrence 18. List the main types of gonosomic syndromes and explain the mechanisms of their occurrence 19. List the major types of mutations that explain the mechanisms of their formation and clinical signs of Down's syndrome 20. Describe the type of mutation, the mechanism of karyotype and main clinical features of patients with Patau syndrome 21. Describe the type of mutation, the mechanism of karyotype and main clinical features of patients with the syndrome of Edwards 22. Describe the type of mutation, the mechanism of karyotype and main clinical features of patients with Turner's syndrome 23. Describe the type of mutation, the mechanism of karyotype and main clinical features of patients with Klinefelter's syndrome 24. List and describe the main methods of diagnosis of hereditary diseases 25. To characterize the clinical and genealogical method, its stages and to determine the value of the hereditary nature of the disease 26. Describe the direct and indirect DNA diagnostic methods and their implications for the diagnosis of hereditary diseases 27. List and describe invasive methods of prenatal diagnosis of genetic diseases 28. Describe the non-invasive and before implantation methods of prenatal diagnosis of genetic diseases 29. List and describe the main characters used in the preparation of the family pedigree 30. Define the genetic risk, to characterize its nature and calculation of the theoretical and empirical risk 31. List and explain the indications for genetic counseling 32. Describe the types of genetic counseling (prospective and retrospective), the essence of each and their differences 33. List and describe the main methods of preventing hereditary diseases. 34. Describe the nature, clinical significance and indications for genetic screening: the mass and selective. 35. Construct a family pedigree to determine the genotypes of pedigree members, inheritance, and to calculate the genetic risk of having a sick child in a family where the father and mother are healthy, two boys are sick, aunt and grandfather on the paternal side of children are sick. Penetrance genes - 80%. All patients were heterozygous for the mutant gene 36. Build a family tree of the family, determine the genotypes of all members of the lineage, inheritance, and to calculate the genetic risk of having a sick child in a family where the parents are healthy consanguine marriage (first cousins siblings), first pregnancy ended in miscarriage, stillbirth, second (sex unknown), the third - birth of a sick girl. 37. Build a family tree of the family, determine the genotypes of all members of the lineage, inheritance, and to calculate the genetic risk of having a patient in a family where the parents are healthy, healthy daughter - the bearer of the mutant gene, and two sons are sick. 38. Build a family tree of the family, determine the genotypes of pedigree members, inheritance, and to calculate the genetic risk of having a patient in a family where the husband is healthy, his wife - is sick and has two children: a boy and girl are healthy, have two children - a boy and a girl - are sick. The mutant gene is localized on the X - chromosome. 39. Build a family tree of the family, determine the genotypes of pedigree members, inheritance, and to calculate the genetic risk of having a patient in a family where the parents are healthy consanguine marriages (uncle and niece), children: a boy and a girl are sick. 40. Build a family tree of the family, determine the genotypes of parents with second and third blood group ABO system (mother - homozygote, father - heterozygote) genotypes and types of children's blood, antigens in red blood cells, antibodies in the serum of all members of the family tree 41. Build a family tree of the family, determine the genotypes of parents with ІVgruppu I and ABO blood, genotypes and blood groups of children, the types of antigens in red blood cells, antibodies in the serum of all members of the family tree 42. Build a family tree of the family, determine the genotypes of pedigree members, inheritance, and genetic risk of having a sick child in a family where my father - well, his mother - was ill, and heterozygous, healthy daughter, a son is sick. Penetrance of the mutant gene - 30%.
Head. Chair, Professor E.U. Kuandykov
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