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Bal J. Biologia molekularna w medycynie. PWN Bal J, Biologia molekularna w medycynie. PWN, Warszawa

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Characterizes basic physiological processes, and cellular and molecular functions of organisms at the level of the organization and function of genetic material. Explains the principle of autosomal, X chromosome-linked, recessive, dominant and poligenic inheritance and epistasis.

Describes the structure and function of eukaryotic chromosomes. Creates the proper records of karyotypes of disease syndromes associated with chromosome aberrations. Selects relevant information to carry out family history to establish the presence or absence of the investigated characteristics in each family member. Construct a pedigree inheritance of selected traits in the family of proband the student.

Solves genetic crosswords and tasks concerning the calculation of the probability of inheriting certain traits or genetic diseases in the family and population. Classifies mutations of individual chromosomes and genes using publicly available genetic databases e. Identifies and resolves ethical issues associated with the development of contemporary genetics and biotechnology. Describes the relationship between genetics and biotechnology development and quality of people life. Is aware of both the benefits and the risks associated with gene manipulation and genetic engineering.

Basic knowledge of biology, cell biology, chemistry, biochemistry, mathematics and statistics: structure and function of cells and their organelles, cell division - mitosis and meiosis, the process of sexual reproduction, gametogenesis and spermatogenesis, the chemical structure of the nucleobases, nucleotides, nucleic acids, amino acids and proteins, chi-square test.

The main goal of the course course is to familiarize students with classical Mendelian laws of inheritance, role of genes and their interactions in the determination of genotypes and phenotypes, the present state of knowledge on the structure, expression and mutations of genes, mutagenesis, carcinogenesis, developmental genetics, cytogenetics, human genetics and genetic diseases, genetic engineering and gene therapy.

Lectures: Attendance at lectures. Positive evaluation of the exam. Laboratory: Mandatory presence in classes. Proper execution of experimental exercise. Correct solution of genetic crosses and assignment of population genetics. A positive mark of the analysis of family pedigree diagrams for selected lineage inheritance, prepared in the form of the report. Obtaining a positive evaluation of the final test.

Lecture: Structure, function and organization of DNA, structure of genome, genetic code. Regulation of gene expression, cistron, operon, regulon, post- transcriptional and post-translational modifications, movable genetic elements, types, structure.

Morphology, ultrastructure and function of chromosome. Significance of meiosis for gametogenesis and genetic diversity, nondisjunction, crossing-over, meiotic and mitotic recombination, significance of recombination, mutation and modification fluctuation for genetic diversity. Genetical significance of sexual reproduction, sex determination, gynandromorphs. Mendelian analysis and laws of inheritance, assortment of genes and chromosomes.

Gene impact on gamete viability — lethal genes. Sex-linked genes, sex chromatin, inactivation of X chromosome, holandric genes, pseudoautosomal heredity.

Pleiotropic genes. Gene interaction — multiple alleles, epistasis, hypostasis. Polymeric, modifying, suppressive, cumulative genes — inheritance of quantitative traits. Chromosomal theory of inheritance gene mapping. Recombination in bacteria. Non-nuclear inheritance. Mechanisms and types of mutations, mutagenic and carcinogenic physical and chemical factors, tests of mutagenicity. DNA recombination and repair. Human genetics — analysis of family pedigree diagrams, genetic diseases, mechanisms and treatment options, genetic therapy.

Basis of cytogenetics. Prenatal diagnosis. Genetic and cell engineering, stem cells, cloning. Basis of developmental genetics. Genetic diversity of organisms — mechanisms and significance for evolution. Impact of environment on gene expression — epigenetic mechanisms of reaction, phenocopies. Population genetics. Laboratory: Ex. Multiple alleles dominant and recessive allels, ABO blood group, resolving genetic crosswords and problems. Epistatic genes definiotion of epistasis, epistatic genes, and different type of epistasis, resolving genetic crosswords and problems.

Non-allelic genes interaction definition and type of non-allelic genes, resolving genetic crosswords and problems. Genetic mechanism of sex-linked determination type of sex-linked determination. Colour-blindness, haemophilia etc. Analysis of family pedigree diagrams graphic development of family pedigree diagrams for 2 chosen traits, estimation of genotypes and phenotypes and type of inheritance, analysis of family pedigree diagrams for chosen genetic diseases, resolving genetic crosswords and problems.

Identification of chromatin X identification of chromatin X body and estimation of genetic sex in cytological samples prepared from the own epithelial cells, analysis of karyogram, karyotype notation, resolving genetic crosswords and problems concerning inheritance of sex-linked traits.

Biochemical basis of the phenomenon of epistasis, group Rh secretion characteristics resolving genetic problems, inheritance of ABO blood groups, exclusion of paternity. Basis of population genetics employment of Hardy-Weinberg law for estimation of autosomal, sex-linked and multiple gene frequency, dominant and recessive, in population, solving tasks. Bal J, Biologia molekularna w medycynie. Elementy genetyki klinicznej, PWN, Lecture: Structure, function and organization of DNA, the structure of the genome, the genetic code.

Differences in the structure of the genome of eukaryotic cell and prokaryotic cells. Regulation of gene expression, cistron, operon, regulon, post- transcriptional and post-translational modifications, mobile genetic elements, types, structure.

Morphology, ultrastructure and function of the chromosome. The importance of meiosis for gametogenesis and genetic variability, nondisjunction, crossing-over, meiotic and mitotic recombination, significance of recombination, mutation and modification fluctuation for genetic variability.

Genetic significance of sexual reproduction, sex determination, gynandromorphs. Mendelian analysis and laws of inheritance, segregation of genes and chromosomes. Pleiotropic effects of genes.

The interaction of genes — multiple alleles, epistasis, hypostasis. Polymeric, modifying, suppressive and cumulative genes — the inheritance of quantitative traits. Chromosomal theory of heredity, the implication of recombination in gene mapping. Mechanisms and types of the genome and gene mutations, aberrations of autosomes and sex chromosomes, mechanism of mutation formation, physical, chemical and biological mutagens and carcinogens, tests of mutagenicity.

The bases of mutagenesis and carcinogenesis. Human genetics — analysis of family pedigree diagrams, univariate and multifactorial inheritance, congenital, familial and genetic disorders — the role of mutations, diagnosis and treatment options, genetic counseling, prenatal diagnosis. Mitochondrial inheritance. Genome imprinting. Fundamentals of cytogenetics. Cytogenetic methods classical and molecular used in clinical genetics and genetic diagnosis of human diseases, establishing paternity and kinship, genetic polymorphism.

Genetic and cell engineering, application in biotechnology and medicine. Stem cells, cloning, gene therapy, bioethical issues in genetics. Histocompatibility genes, transplantological typing and compatibility. Fundamentals of developmental genetics, homeotic genes, congenital malformation.

Variability of organisms - mechanisms of genetic variability, the importance in the evolution of organisms. Impact of environment on phenotype expression — epigenetic mechanisms of reaction, phenocopies. Multiple alleles dominant and recessive , resolving genetic crosswords and problems. Epistatic genes definition of epistasis, epistatic genes, epistasis, resolving genetic crosswords and problems.

Identification of chromatin X identification of chromatin X body and estimation of genetic sex in cytological samples prepared from the own epithelial cells and lymphocytes of patients with abnormalities in sex chromosomes, analysis of karyogram, karyotype notation, resolving genetic crosswords and problems concerning inheritance of sex-linked traits.

Identification of ABO blood group antigen release analysis of the presence of ABO blood group antigen in samples of own saliva, resolving genetic problems inheritance of ABO blood groups, exclusion of paternity. Basis of population genetics employment of Hardy-Weinberg law for estimation of autosomal, sex-linked and multiple gene frequency, dominant and recessive, in population.

Bal J. Badania molekularne i cytogenetyczne w medycynie, PZWL, Connor M, Ferguson-Smith. Podstawy genetyki medycznej. PZWL Genetyka, PWN, Jorde LB i in. Genetyka medyczna. Czelej, Korf B. PWN Skip to main menu Skip to submenu Skip to content. Print syllabus. Choosen plan division: this week course term.

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