GENETICS
cod. 20501

Academic year 2023/24
1° year of course - Second semester
Professor
- Enrico BARUFFINI
Academic discipline
Genetica (BIO/18)
Field
Discipline biologiche
Type of training activity
Basic
76 hours
of face-to-face activities
9 credits
hub: PARMA
course unit
in ITALIAN

Learning objectives

The student must learn the main information related to basic genetics in agreement with the program and be able to process this information in order to solve practical problems.
In particular, the student should be able to:
1) Know the main concepts related to genetics, with particular reference to Mendel's laws, gene interactions, chromosomal alterations, microorganism genetics, DNA organization, replication and transcription, gene mutation, and population genetics.
2) Use the specific language of genetics, and of the definitions that underlie the matter; apply mathematical and statistical methods, in order to solve practical problems of genetics, understand basic concepts of genetics in English.
3) Evaluate and interpret data necessary to solve problems related especially to the genetic inheritance; evaluate teaching.
4) Explain the problems related to the main issues addressed.
5) Connect the information learned both with each other and with all the other disciplines previously learned; achieve the basic skills required for inclusion in professional activities related to genetics.

Prerequisites

Basics of biology acquired during high school.

Course unit content

The lectures are composed by three parts.
1) FORMAL GENETICS
Introduction to genetics, cell reproduction and chromosomes, classical and Mendel genetics, extension of Mendelian analysis, chromosomal theory of inheritance, human genetics and pedigree, gene association, analysis of the tetrads in Saccharomyces cerevisiae, one gene-one enzyme theory
2) MOLECULAR BASES OF INHERITANCE AND MOLECULAR GENETICS
Bacterial genetics, nature of genetic material, DNA replication, gene structure and transcription, organization of the human genome, genetic code and translation, gene mutations, cytogenetics and genomic and chromosomal mutations, gene regulation in prokaryotes
3) POPULATION GENETICS
Hints of population genetics.

Full programme

1) Brief introduction to genetics
Definition of genetics, brief history of genetics and its milestones
2) Cell organization and reproduction, chromosomes
Eukaryotic and prokaryotic cells, prokaryotic cell division, eukaryotic cell cycle, chromosomes, chromatin, telomeres, centromeres, chromosome structure, mitosis, meiosis, crossing over, gametogenesis.
3) Classical Genetics, Mendel and Mendelian inheritance
Mendel and his experimental model, crossings, Mendel's laws, Punnett's square, test cross, branched diagram method, probability method, statistical and chi-square tests.
4) Extension of Mendelian analysis
Incomplete dominance, codominance, multiple alleles, lethal alleles, gene interactions, epistasis, double interaction, complementation test, expressivity, penetrance and environmental effect.
5) Chromosomal theory of heredity
Ploidy, experiments on Drosophila melanogaster, sex determination in diploids, chromosomal basis of Mendel's laws.
6) Human genetics and pedigree
Pedigrees and their analysis, autosomal recessive, autosomal dominant, X-linked recessive, X-linked dominant and Y-linked inheritance, and selected examples of pathologies, complications in Mendelian inheritance models.
7) Gene association
Gene association and test cross, cis and trans dominance, recombination, parental and recombinant phenotype, chromosomal maps, two or more-point crosses, map distance, interference
8) Analysis of the tetrads in Saccharomyces cerevisiae
Yeast and its reproductive cycle, tetrads and their analyzes, culture media, yeast mutants, types of tetrads.
9) One gene-one enzyme theory
Garrod's observations, Neurospora crassa cycle, Beadle and Tatum's experiments on auxotrophic mutants, reconstruction of biosynthetic pathways, overcoming of the theory.
10) Bacterial genetics
Prokaryotes, growth, growth media, isolation and types of mutants, Griffith and transformation experiments, Lederberg and Tatum experiments and conjugation, F and F’ factor, interrupted conjugation, sexduction, construction of prokaryotic genetic maps, lytic and lysogenic phages, generalized and specialized transduction.
11) Nature of the gene material
Experiments demonstrating the nature of DNA as gene material, DNA composition, nitrogen bases, nucleosides, nucleotides, dNTPs, DNA structure and different conformations, Chargaff rules, RNA structure, three-dimensional structure of DNA, supercoils, organization of the genome, chromatin compaction stages.
12) DNA replication
Nature of replication, enzymes involved in replication, DNA polymerase, replication in prokaryotes, hints of replication in eukaryotes.
13) Gene structure and transcription
Gene information flow, central dogma and its overcoming, prokaryotic and eukaryotic gene structure, types of RNA, enzymes involved in transcription, transcription in prokaryotes, promoter and initiation, elongation, termination, hints of transcription in eukaryotes, RNA maturation, splicing.
14) Example of genome organization: the human genome
Nuclear genome, base composition, number of genes, genes for different RNAs, gene families, overlapping genes, pseudogenes, retrogenes, hints to the sequencing of the human genome.
15) Genetic code and translation
Amino acids, proteins, genetic code and its deciphering, translation, elements involved in translation, tRNA, wobbling, ribosomes, translation in prokaryotes, Shine-Dalgarno sequence, beginning, extrnsion and termination of the translation.
16) Gene mutations
Subdivision of mutations, random and induced mutations, point mutations, substitutions and indels, germline and somatic mutations, mutations in mRNA, tRNA and rRNA, reversion, retromutation, suppression, mutation frequency and mutation rate, mutagenesis, mutagenic agents, mutant search, consequences of the mutation, molecular pathology, types of mutated alleles, alleles and dominance/recessivity.
17) Cytogenetics, genomic and chromosomal mutations
Preparation of the karyotype, characteristics of chromosomes, human chromosomes, examples of karyotypes, euploidy and aneuploidy, mutations in the number of chromosomes, consequence of genomic mutations in humans, structural mutations of the chromosome.
18) Gene regulation in prokaryotes
Types of regulation, positive and negative regulation, repressible and inducible genes, operons, Lac operon, Jacob and Monod experiments, catabolite repression, Trp operon.
19) Hints of population genetics
Hardy-Weinberg law, extensions and exceptions to the law, migration, use of the law for genetic counseling.
20) If there is time: extranuclear genetics, mitochondrial genetics, mitochondrial DNA, maternal inheritance, heteroplasmy and homoplasmy

Bibliography

One among:
- Genetica, di G. Binelli, D. Ghisotti, EdiSES
- Genetica, di A.J.F. Griffiths, S.R. Wessler, S.B Carroll, J. Doebley, Zanichelli Ed.
- Principi di Genetica, di D.P. Snustad e M.J. Simmmons, EdiSES
- Genetica, di B.A. Pierce, Zanichelli Ed.

Teaching methods

The lessons will take place face-to-face, with the aid of Powerpoint and classroom exercises.
Before each lesson, the slides that will be discussed in the lesson will be uploaded to Elly.
At the end of the first part, a completely optional intermediate test will be held. This will not contribute to the final grade and will be followed by correction in the classroom and self-assessment.

Assessment methods and criteria

Exams will take place in the classroom, face-to-face.
The test will last 1 hour and 40 minutes and will be divided into two parts: a quiz with 8 closed-ended questions, usually with 4 alternatives, and 6 questions between exercises and open-ended theoretical questions. Each closed-ended question is worth one point, while each open question is worth up to 4 points. To pass the exam it is necessary and sufficient to answer to at least 5 closed-ended questions and reach an overall score of 18. If the correct answers to the closed-ended question questions are less than 5, I will not proceed further with the correction, and the vote on Esse3 will "insufficient". If the correct answers to the closed-ended question are at least 5, I will proceed with the correction of the entire exam, and on Esse3 I will publish the exam grade, which will be equal to the overall score which, in the case of decimal values, will be always approximated upwards. If the grade is less than 18, the exam is considered insufficient. If the grade is between 18 and 30, you will usually have 7 days to decide whether to accept or decline the grade. If the score is higher than 30, the grade assigned will be 30 magna cum laude.

An oral exam is NOT foreseen in any case.

Other information