Human Genetics

The course is designed to review the stages of development of human genetics science, its current trends and issues. It aims to provide knowledge about the peculiarities of the human nuclear and mitochondrial genomes, the structure and function of genes and chromosomes, and the principles of heredity and variability and their influence on genotype and phenotype. In addition, the course seeks to acquaint with the mechanisms of the occurrence and inheritance of human genetic diseases and modern diagnostic methods. Furthermore, the course offers to review the effects of teratogens on the embryo and the possibilities of prenatal diagnosis and the principles of genetic counseling for families.

To acquaint with the science of human genetics and to provide knowledge about the organization of the human genome, coding and transmission of genetic information from generation to generation at the genome and phenotype level; on human mutational variability at the gene and chromosome level and its association with pathological conditions; on inherited human diseases and diagnostic test methods; on genetic counseling in families and the possibilities of prenatal diagnosis.

General Biology, Biochemistry, General Genetics

1. Introduction. Development of human genetics science, modern trends and problems, discoveries and achievements. 2. Structure and organization of the human genome. Mitochondrial genome. Nuclear genome. The essence of the human genetic code. 3. Human chromosomes. Heterochromatin and euchromatin. Chromosome condensation. Structure and morphology of human chromosomes. Normal human karyotype. Chromosome analysis methods. 4. Chromosomal heritability theory and its principles. Cell cycle and changes in human chromosomes during mitotic and meiotic division. The biological role of meiosis. 5. Variability of the human genome; classification and nomenclature of mutations. 6. Developmental genetics. Gene activity in the early stages of embryonic development. Teratological effects and teratogenic effects on the human embryo 7. The inheritance of human traits in generations. Genealogical analysis of families 8. Hereditary groups of human diseases. Monogenic human diseases are inherited according to Mendel's laws 9. Chromosomal diseases and syndromes in humans 10. Peculiarities of mitochondrial gene expression and inheritance. Diseases caused by changes in mitochondrial DNA. 11. Rare diseases.General screening of newborns for inherited metabolic diseases. Genetic counseling for families. 12. Prenatal diagnosis of hereditary diseases and congenital malformations.

The assessment of achievements are mid-term (colloquium) and final (exam). The level of knowledge is determined according to the evaluation criteria of achievements and is expressed by points corresponding to the achievements in the ten-point evaluation system.