Lecture Topics: 1st consultation Conception and organization of medical genetics (classification of workplace of medical genetics, work of counseling and laboratory, statistics of hereditary diseases and congenital defects). Primary and secondary prevention of hereditary diseases and congenital malformations. Basic genetic concepts, types of inheritance and basic genetic processes (replication, transcription, translation). Principle of segregation and combination of talents. Recombination and gene binding. Quantitative trait inheritance. Human genetics. Mutagenesis, teratogenesis, carcinogenesis. Gene mutations and chromosomal aberrations in humans. 2nd consultation Examination Methods of Medical Genetics (Genealogy, Twins Analysis, Differential Diagnosis of Phenotypes, Prenatal Diagnosis, Cytogenetic and Molecular-Genetic Investigations). Most common hereditary diseases (manifestations, diagnostics, screening, prevention) and congenital defects (manifestations, diagnostics, screening, prevention). Perspectives of Medical Genetics (predictive DNA diagnostics, cooperation with other disciplines, assisted reproduction). Ethical and Legal Aspects of Medical Genetics.
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The subject is conceived as theoretical. Students will acquire basic knowledge of general genetics (the principle of segregation and combination of talents, gene binding and recombination, transcription, transcription, translation and their regulation, mutagenesis, teratogenesis and carcinogenesis, genetic processes at population level) and genetics Human Genetics and Medical Genetics (Genetic counseling, genetic risk assessment, genetic risk assessment, genetic counseling, hereditary diseases and congenital malformations).
Expertise: The student demonstrates knowledge of genetic information transfer, basic types of heredity, human karyotype, methods of prenatal diagnosis, prevention of congenital malformations and the most frequently occurring inherited diseases. Professional Skills: The student is able to construct a family tree diagram and analyze the family tree, write and karyotype, calculate the risk of affection by simple (monogenic) hereditary disease in case of basic types of heredity (recessive, dominant, sexually bound).
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