GENETICS
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- Versione italiana
- Academic year
- 2019/2020
- Teacher
- CHIARA SCAPOLI
- Credits
- 9
- Curriculum
- BIOTECNOLOGIE PER L'AMBIENTE
- Didactic period
- Secondo Semestre
- SSD
- BIO/18
Training objectives
- The course has been designed to introduce the fundamental concepts of classical genetics which are needed for the understanding of the mechanisms of heredity at the molecular, family and population level; interpreting experimental data and making predictive hypothesis. At the end of the course the student must have a good knowledge of the following concepts: mendelian inheritance with its extensions and exception; chromosome theory of inheritance; association and genetics maps; the genetic material structure; kind of mutations (genic mutations, chromosomal abnormalities and changes in chromosome number. Moreover, the student will acquire knowledge on the structure, function and regulation of genes, on their interactions as well as on the structure and function of genomes. Through technical practices, a direct experience on the use of specific methodologies commonly employed in Genetics will be acquired.
Knowledge and understanding:
Knowledge and understanding of hereditary transmission, genetic recombination, relationships between genotype and phenotype, regulation of gene expression, and the molecular bases of genetic variation and evolution.
- To learn: the main extensions and exceptions to Mendel’s laws; the methodologies employed in genetic analysis of complex traits; the mode of inheritance of traits in pedigrees and experimental crosses, to estimate transmission probability to the offspring and to apply the tools of genetic analysis to simple cases of unifactorial inheritance in human pedigrees;
- To learn the molecular basis DNA as genetic material. Key features of the genetic material. Correlation between structure and biological function of DNA. Concept of gene and genome.
- To acquire the basic knowledge of gene dynamics in populations and of the genetic bases of evolution.
Applying knowledge and understanding:
General knowledge of the methodologies employed in genetic analysis. Ability a) to determine the mode of inheritance of traits in pedigrees and experimental crosses, b) to estimate transmission probability to the offspring, and 3) to asses genetic linkage among genes. Use of statistical tests to verify the significance of experimental data. Genetic analysis at the population level. Acquisition of basic methodologies for the analysis of DNA and its polymorphisms.
Making judgements:
Acquisition of critical skills in analysing and interpreting experimental results of genetic tests. Understanding of the probabilistic nature of predictions in the transmission of traits to the offspring. Awareness of the complex relationship between genotype and phenotype and of the evolutionary importance of genetic variability.
Communication skills:
Ability to express genetic concepts and data through proper scientific terminology. Ability to communicate and explain even to non-specialists issues concerning heredity and the relationship between genotype and phenotype.
Learning skills:
Acquisition of fundamental knowledge for advanced studies in genetics and a better understanding of biological phenomena. Prerequisites
- Although there are no prerequisites, the student should have basic knowledge of the following topics, dealt with in the “Mathematics/statistics”, “General, inorganic and organic chemistry” and “General biology” courses:
• Basic knowledge of mathematics/statistics;
• Basic knowledge of chemistry.
• Fundamentals of general biology: cell structure, cell cycle, mitosis and meiosis. Course programme
- The course consists of theoretical lessons and guided experimental activities. The goal of the lessons is to help the students to uncover and make connections among the main concepts of genetics. The program is as follows.
Formal genetics (32 hours)
Mendelian Genetics: genotype and phenotype. Methods of Mendelian analysis. Segregation and independent assortment of genes. Backcross. Correlation between Mendelian laws and meiosis. Probabilistic estimates and chi-square test in genetic analysis. Sex-linked inheritance. Pedigree analysis. Multiple alleles. Modified Mendelian ratios: incomplete dominance and codominance; lethal genes, genetic interactions. Penetrance and expressivity. Environmental effects on phenotypic expression. Polygenic traits inheritance. Linkage, recombination and gene mapping in eukaryotes. Discovery of gene linkage. Recombination and crossing over. Linkage maps based on recombination frequency. Two and three point crosses. Double crossover and interference. Molecular markers. Linkage analysis in man.
The molecular basis of heredity (10)
Structure and function of the genetic material: DNA as genetic material. Correlation between DNA structure and function. Genome organization in eukaryotes. DNA replication. Genes coding for proteins. The gene in Prokaryotes and in Eukaryotes: structure, replication, transcription: similarities and differences. The genetic code. Principles on the mRNA translation and synthesis of proteins. Non coding RNAs: Ribosomal RNAs. Transfer RNAs. MicroRNAs: structure and function.
Mutations (10 hours)
Point mutations: phenotipic effects. The karyotype: characteristics and methods of study. Euchromatin and heterochromatin. Mutations of chromosome structure: deficiencies and duplications, inversions, translocations. Mutations of chromosome number: poliploidy and aneuploidy. X inactivation in mammals.
Gene expression (15 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.
Population genetics (5 hours)
The Hardy-Weinberg law for autosomal and X-linked loci and its application. Factors affecting genetic variation: mutation, migration, genetic drift, natural selection.
Practical activities:
- practice on problem solving, written tests, Didactic methods
- The course consists of theoretical lessons and guided practical exercises. In more detail, the course load is 72 hours (9 ECTS) taught the classroom among which some hours are spent in practical exercises, on problem solving and written tests.
Classes are held weekly in the classroom, using powerpoint slides. For a better comprehension of some topics also the classical backboard will be used. Learning assessment procedures
- The aim of the exam is to test the level of knowledge and deepening of the topics of the course program.
The exam is written, and consists of 33 multi-choice questions. To each answer a value from 1 to 3 (depending on difficulty) can be scored up. To wrong answers a score equal to -0.5 will be applied and a score equal to 0 will be attributed to missing answers. The assessment is expressed in thirtieths and it is obtained by the total score achieved in the test. The minimun score is 36, corresponding to the minimum grade of 18/30. The maximun score is 63, a score over 60 correspond to 30/30 cum laude.
The time available to perform the test will be assessed according to the availability of on-line procedures or paper systems. For DSA students, the procedure of the examination will be evaluated individually. Reference texts
- For the final examination, the following text is sugggested:
Pierce B.A, 2016. Genetica. Zanichelli
These books are equivalent and equally suitable:
Russell P.J. 2014. Genetica. Un approccio molecolare. Pearson
Binelli & Ghisotti. 2018. Genetica. EdiSES
