Ateneo - UPO

The course provides knowledge on the structure and evolution of the human genome. And organization, replication and transmission of the hereditary in prokaryotes and eukaryotes.

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The course aims to teach students the fundamentals of the organization, transmission, and expression of genetic material in humans, as well as in prokaryotic and eukaryotic organisms. Students will be provided with the tools to understand the relationship between genetic information and the phenotype. They will learn to assess the recurrence risk of genetic disorders—or conditions with a genetic component—within families, understand the molecular basis of genetic diseases, and apply this knowledge to analyze and solve problems in formal and molecular genetics.

Basic knowledge of biology, biochemistry and statistics.

Class lectures with PowerPoint projections and use of the overhead projector for exercises explanation and solution.

Students with physical disabilities, Learning Disabilities or Special Education Needs can request specific services and tools via the Staff Sviluppo e Coordinamento Carriere e Servizi alle Studentesse e agli Studenti, consulting the University webpage: https://www.uniupo.it/en/services/ students-physical-or-learning-disabilities Students with disabilities, learning disabilities or special education needs, once they have contacted the University Staff, can refer to the tutor in charge of the course to define the examination modalities, concerning academic aspects

The exam consists of a written test for the genetics of microorganisms and eukaryotes, and both a written and an oral test for human genetics. The written test for the genetics of microorganisms comprises 30 multiple-choice questions. These questions (featuring 5 options, with only one correct answer) may be theoretical questions covering various topics in the syllabus or simple formal genetics problems. The human genetics exam consists of a written test—comprising multiple-choice questions on fundamental topics—and an oral component. Students may only proceed to the oral component if they achieve a passing grade on the written test. During the oral exam, in addition to questions covering the entire syllabus, students will be asked to solve a Mendelian genetics problem involving risk calculation.

DNA structure. Organization of DNA in chromosomes. Structure and function of the chromosome.-The Human Genome structure. Organization of genes. Transposable elements. Ripetitive DNA sequences. Gene families. -Cell division: mitosis and meiosis. -Genotype-phenotype correlation (example: ABO blood group, sickle cell anemia). Protein translation and genetic code. Correlation between type of mutations and dominant or recessive phenotype at different levels of phenotype investigation. Genetic consequences of meiosis. DNA structure. Organization of DNA in chromosomes. -Principles of Mendelian genetics. Transmission in families of autosomal recessive, dominant and X linked monofactorial traits; recurrence risks in families. -"Exceptions" to Mendel’s rules. Incomplete penetrance, variable expressivity, genetic heterogeneity. X-chromosome inactivation, mitochondrial inheritance, genomic imprinting -Criteria for classification of chromosomes and methods for their identification. Chromosomal aberrations and their incidence at birth; Reproductive risks associated with chromosomal aberrations. -Population genetics. Gene and genotypic frequencies in the population and Hardy-Weinberg equilibrium -Evolution of human populations. Evolutionary forces (mutation, selection, genetic drift, migration) that influence allelic and genotype frequencies. -Transmission of independent and concatenated characters. Localization of genes on chromosomes based on their transmission in families (linkage analysis). Different methods for gene mapping. -Multi-factorial characters. Population distribution of multifactorial characters; evaluation of the weight of the genetic component in multifactorial disorders; identification of susceptibility genes in multifactorial diseases. The genetic material: chemical composition and structure. Replication, transcription and translation of genetic material. DNA organization in prokaryotic and eukaryotic chromosomes. Mutation and DNA repair. Mendel's laws and their applications. Extension of mendelian analysis: multiple alleles and genetic interaction (epistasis, penetrance and expressivity). Genetic recombination. Genetics of microorganisms: bacteria, bacteriophages and yeast. Exchange of genetic material: conjugation, transformation and transduction. Regulation of gene expression in bacteria and bacteriophages.

Knowledge and understanding To know the structure, replication and transmission of the genetic material. To understand the bases of the Mendelian inheritance and of the interaction among genes. To know the most important mechanisms of transferring of genetic material and regulation of gene expression in prokaryotes. Applying knowledge and understanding: At the end of the course the student should be able: To apply the acquired knowledge to solve questions regarding the Mendelian inheritance, both qualitatively (expected genotypes and phenotypes) and quantitatively (expected frequencies). To distinguish among the different types of inheritance and to predict the phenotypic effects of the interactions between alleles at a single locus and among genes. To describe and compare the different mode of transferring genetic information between bacteria. Understand the relationships between genetic information and the phenotype. - Know how to evaluate the risk of recurrence of genetic diseases or with genetic components in families. -Know the molecular basis of genetically based diseases. -Apply knowledge to the analysis and resolution of problems of formal and molecular genetics. Making judgements Ability to formulate hypotheses about genetic transmission and to critically discuss the complex relationships between genotype and phenotype. Communication skills Ability to expose the subjects of the course in a clear and comprehensible way and with the use of the appropriate scientific terminology. Learning skills Ability to deepen their knowledge of the genetics on several books and on scientific articles in order to follow with a critical attitude the advancement of discipline.