GENETICS
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- Versione italiana
- Academic year
- 2022/2023
- Teacher
- GUIDO BARBUJANI
- Credits
- 9
- Didactic period
- Secondo Semestre
- SSD
- BIO/18
Training objectives
- The goal of the course is to help the students uncover and make connections among the main concepts of genetics. These include the rules of inheritance, the molecular bases of genetic transmission, their evolutionary significante and the main applications of genetics. The idea is to pursue these objectives starting from experimental evidence and then leading the students to draw conclusions from the data.
The main notions will be:
• Chemical nature and function of nucleic acids;
• Formal rules of genetic inheritance;
• Structure, function and evolution of genes and genomes;
• Mechanisms and control of gene expression and of epigenetic phenomena;
• Basic knowledge of gene dynamics in populations and of the genetic bases of evolution.
The main acquired skills will be:
• Ability to formalise hypotheses about the inheritable transmission of biological traits;
• Ability to construct and interpret pedigrees;
• Applicazion of the tools of genetic analysis to simple cases of unifactorial inheritance;
• Use of biostatistical methods for data analysis and hypothesis testing. Prerequisites
- Students will have to be familiar with the following topics, dealt with in the “Mathematics”, “General and inorganic chemistry” and “Cytology and histology”courses:
• Basic knowledge of mathematics;
• Basic knowledge of chemistry.
• Fundamentals of general biology: cell structure, cell cycle, mitosis and meiosis. Course programme
- The course includes 72 hours of lectures and 5 practical activities.
The genetic material (20 hours)
The genome. DNA: chemical nature. DNA replication. Gene function. Transcription. Translation. RNAs. Mutation and DNA repair. Structure of genomes. Non-coding DNA. Interactions between genes and factors in the environment.
Formal genetics (24 hours)
Genotype and phenotype. Theories about heredity. Mendel’s experiments and laws. Chromosomal bases of heredity. Extensions of mendelian analysis. Sex-linked inheritance. Linkage and crossing-over. Genetic maps in eukaryotes and prokaryotes. Analysis of pedigrees. Chromosome mutations and anomalies.
Gene expression (12 hours)
Gene regulation in prokaryotes and the concept of operon. Gene regulation in eukaryotes. Molecular structure of the gene. RNA interference. Characteristics and function of microRNAs. Epigenetic mechanisms, investigated at the single gene level and at the genomic level.
Applications of molecular genetics (6 hours)
Genetic bases of cancer. Genetically-modified organisms. Methods for the study of ancient DNA.
Genetica di popolazioni ed evoluzione (10 hours)
Genetic variation. Populations at equilibrium. Factors causing departures from Hardy-Weinberg’s equilibrium: genetic drift, gene flow, selection. Genetic evidence about human evolution. Didactic methods
- • Class lectures on all topics of the course;
• 4 practical classes in which the concepts learned in the classes will be used to solve simple quantitative genetic problems;
• There is the possibility to participate to the weekly meetings of the Genetics group, in which scientific papers are presented and discussed. Learning assessment procedures
- The written exam will includes:
• Multiple-choice questions on all topics in the course;
• Graphic tests on gamete formation processes;
• Numerical excercises on Mendelian segregation ratios, likage, recombination and population genetics;
• Description and interpretation of one or more experiments discussed in the class;
• Pedigree analysis.
Pocket calculators can be used. The test will last 40 minutes. Reference texts
- All the slides can be downloaded from this site: http://www.guidobarbujani.it
Main reference text:
P.J. Russell (2014) Genetica. Un approccio molecolare. 4 ed. italiana. Pearson Italia (Milano, Torino)
Additional texts:
M.F. Sanders, J.L. Bowman (2013) Genetica. Un approccio integrato. Pearson Italia (Milano, Torino)
B.A. Pierce (2014) Genetics. A conceptual approach. 5th edition. W.H. Freeman & Co. (New York)
