Ateneo - UPO

Structure and evolution of the human genome. - Cell division: mitosis and meiosis. -Correlation genotype-phenotype (example: ABO blood group, sickle-cell anemia). -Principles of Mendelian genetics. - Exceptions to the laws of Mendel. - Chromosomal classification criteria and chromosomal aberrations - Population genetics. -Transmission of independent and concatenated characters. Linkage analysis. - Quantitative and semi-quantitative multifactorial traits. - Methods of molecular genetics - Analysis of genomic databases

Eredità, Principi e problematiche della genetica umana, M.R. Cummings, Edizioni EdiSES, II edizione (2009) Genetica in medicina Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard & Thompson. Edises, 2018 Thompson. Edises, 2018

To understand the relationships between genetic information and the phenotype. To Know how to evaluate the risk of recurrence of genetic diseases or with genetic components in families. To know the molecular basis of genetically based diseases. Apply knowledge to the analysis and resolution of problems of formal and molecular genetics.

Basic notions of biochemistry, cell biology, and statistics.

Lectures with presentations in MS-Power Point format. Assignment of genetic problems to be solved in class with related discussion

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

Learning will be verified by a written exam consisting of quizzes a multiple choice on basic topics and an oral part. The oral part can only be accessed with sufficient writing test. During the oral exam, in addition to questions about the whole program, you will be asked to solve a problem of Mendelian genetics that will focus on the calculation of risk.

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. -Principles of Mendelian genetics. Transmission in families of autosomal recessive, dominant and Xlinked 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.

Learning will be assessed through a written exam with multiple-choice questions, passing which is required to access the oral exam.