Genetica M - Z

The teaching of GENETICs aims to provide the basic knowledge of classical, molecular and population genetics providing an integrated framework with the other biological teachings provided by the Degree in Biological Sciences.

The student, with the teaching of GENETICs, acquires the knowledge of the methods of Mendelian analysis and its applications, is able to analyze genealogical trees of Mendelian characters and to evaluate the model of inheritance. It also acquires knowledge of the general principles underlying the distribution of alleles in a natural population. The student is able to describe the structure and organization of the genetic material, as well as the general principles of gene expression. He knows the different types of mutation, is able to describe them and evaluate their phenotypic effects, the mechanisms of spontaneous DNA mutation and the effects of the main environmental mutagens. He understands the main methodologies of DNA analysis and its polymorphisms, and their application. He knows and learns to use the main scientific databases and the different types of scientific articles. Finally, he is able to communicate in an effective and relevant way, analyzing with logic capacity the topics included in the program.

Teaching includes lectures performed with the use of powerpoint other multimedia tools such as movies. Class exercises are also scheduled. Should teaching be carried out in mixed mode or remotely, it may be necessary to introduce changes with respect to previous statements, in line with the programme planned and outlined in the syllabus.

Mendelian genetics. Genotype and phenotype. Monohybrid and dihybrid cross. Relations between the alleles: complete and incomplete dominance, co-dominance and recessivity. Multiple alleles. The Epistasis. Mitosis: chromosome configuration at different stages of the cell cycle. Meiosis: random assortment of chromosomes, crossing-over and gametes formation. Haploidy and diploidy.

The Chromosomal theory of heredity: the Morgan experiments. Gene linkage and genetic mapping. Probability and statistics to analyze the transmission of Mendelian traits. The chi-square test. The pedigree analysis in the study of inherited traits.

Population Genetics: allele and genotype frequencies. Mendelian populations and Hardy-Weinberg principle for loci with two alleles. Genetic structure of populations (outline).

The genetic material. Experiments to identify the genetic material: Griffith, Avery-McLeod-MacCarty, Hershey and Chase. The structure of DNA and RNA molecules. Characteristics of the genome in the present organisms. Organization of Eukaryotic chromosomes. The human karyotype: main methods to preparation and analysis.

Mutations. Mutations in somatic and germ cells. Point mutations: characteristics and effects. Molecular basis of mutations. Mutations in the number and in the structure of the chromosomes. The main mechanisms of the spontaneous mutations. Mutagenic environmental factors: physical, chemical and biological agents. Role of the mutations in the evolution of the genes and their products. Oncogenes and antioncogenes: main features a mechanisms of activation.

Genes and DNA. The central dogma of genetics: replication, transcription and translation. The genetic code: definition and properties. Historical evolution of the functional definition of the gene. The prokaryotic and eukaryotic genes. The evolution of eukaryotic genes. The genes in multiple copies and gene families. The ortholog and paralog genes. Pseudogenes. The regulation of gene expression; main models of regulation in prokaryotes and eukaryotes. Outline of developmental genes and differentiation.

Basic Methods for DNA analysis. Preparation of genomic DNA, PCR, enzymatic cut, electrophoresis, sequencing. The RFLP and their use in diagnostics.

Exercises
Mendelian genetics. Statistic probability assay. Analysis of family trees. Construction of genetic maps. Human karyotype analysis. Allelic, phenotypic and genotypic frequencies. Online public databases: different types and methods to use them. Scientific articles: types and organization of the various paragraphs. The multidisciplinary and specialized scientific journals. Bibliographic references in articles and scientific reports. Websites that can be used for bibliographic searches.

1. Binelli, Ghisotti e altri. GENETICA. EdiSES, Napoli
2. Russel. GENETICA: UN APPROCCIO MOLECOLARE. Pearson Italia, Milano.
3. Griffiths e altri. GENETICA: PRINCIPI DI ANALISI FORMALE. Zanichelli, Bologna.
4. Russel PJ. I-GENETICS: A MOLECULAR APPROACH. Benjamin-Cummings Pub Co Eds. ISBN-10: 0321772881. ISBN-13: 978-0321772886
5. Griffiths et al. AN INTRODUCTION TO GENETIC ANALYSIS. W H Freeman & Co Eds.; 11 edition. ISBN-10: 1464109486. ISBN-13: 978-1464109485.