Genetica A - L
Academic Year 2023/2024 - Teacher: CONCETTA FEDERICOExpected Learning Outcomes
A graduate in Biological Sciences, with the GENETICS, gains knowledge of Mendelian analysis methods and their applications, including the use of pedigrees for Mendelian inheritance traits. They acquire the general principles underlying the distribution of alleles in a natural population. They also acquire basic knowledge of the structure and organization of genetic material, as well as the general principles of gene expression. They are familiar with various types of mutations and their phenotypic effects, as well as the mechanisms of spontaneous DNA mutation and the effects of major environmental mutagens. They gain an understanding of the main methodologies for DNA analysis and its polymorphisms. They also learn to use major online databases and various types of scientific articles found in the literature.
Course Structure
Required Prerequisites
The required knowledge to GENETICS course encompasses all first-year courses that contribute to the understanding of the organization of living matter and cells, primarily provided by Chemistry, Cytology and Histology, Botany, and Zoology courses that students are expected during the first year .
In any case, during the lessons, there will be a focus on recovering basic knowledge whenever necessary.
Attendance of Lessons
Detailed Course Content
Mendelian Genetics. Continuous and discrete variability. Traits, phenotype, and genotype. Monohybrid crosses and Mendel's principle of segregation. Dihybrid crosses and Mendel's principle of independent assortment. Multiple alleles. Incomplete dominance and codominance. Gene interaction and modified Mendelian ratios. Epistasis. Lethal alleles. Environment and gene expression. Mendelian transmission of traits in humans. Analysis of pedigrees. Statistical analysis of genetic data: the chi-square test. Population genetics. Chromosomal theory of inheritance. Mitosis. Meiosis. Genetic significance of meiosis. Sex chromosomes. Sex-linked inheritance. Sex determination. Analysis of sex-linked traits in humans.
Gene linkage. Complete and incomplete linkage. Recombination between genes and the role of chromosome crossover. Construction of genetic maps.
Genetic material. Identification of hereditary material: Griffith's experiment, Avery-McLeod-McCarty experiment, Hershey and Chase experiment. Nucleic acids: structure and organization of DNA and RNA. Genomes of current organisms. Eukaryotic chromosomes. Human karyotype: main preparation and analysis methods.
Mutations. Mutations in somatic and germ cells. Point mutations: characteristics and effects based on gene position. Structural and numerical chromosomal mutations: classification, formation modes, genetic and phenotypic consequences. Brief overview of allopolyploidy and autoploidy. Mechanisms of spontaneous mutation formation. Chemical bases of mutations. Induced mutations. Mutagenic agents of physical, chemical, and biological nature. Environmental mutagenesis and mutagenesis tests (overview). Mutations and their role in gene and product evolution.
Genes and DNA. Main functions of DNA: replication, transcription, and translation. Genetic code: definition and properties. Historical evolution of the gene concept. Structural, functional, and genetic definitions of a gene. Prokaryotic and eukaryotic genes: general structure and genomic organization. Evolution of eukaryotic genes: size and formation of interrupted genes. Multiple-copy genes and gene families. Main mechanisms of gene family origin. Pseudogenes. Regulation of gene expression: definition and regulation models. Regulation in prokaryotes and eukaryotes. Overview of developmental and differentiation genes.
Basic methods for DNA analysis. Genomic DNA preparation, PCR, enzyme fragmentation, electrophoresis, sequencing. RFLPs and their use in diagnostics.
Textbook Information
Binelli Ghisotti e altri. GENETICA EdiSES , Napoli.
Griffiths e altri. GENETICA: PRINCIPI DI ANALISI FORMALE. Zanichelli, Bologna.
Russel. GENETICA: UN APPROCCIO MOLECOLARE. Pearson Italia, Milano.
Hartl & Jones. GENETICA IN UNA PROSPETTIVA GENOMICA. Idelson-Gnocchi Editore. Napoli.Learning Assessment
Learning Assessment Procedures
Examples of frequently asked questions and / or exercises
DNA Replication
Mendelian experiments