Teachings

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Professor
PAOLO FRANCALACCI (Tit.)
Period
First Semester 
Teaching style
Convenzionale 
Lingua Insegnamento
 



Informazioni aggiuntive

Course Curriculum CFU Length(h)
[60/76]  BIOTECHNOLOGY [76/20 - Ord. 2018]  Farmaceutico 7 60

Objectives

Educational objectives: to get acquainted with the molecular basis of heredity; to understand the mechanisms and basic principles of inheritance at the molecular, cellular and organism levels and the relationships between genotype and phenotype. To get familiar with basic methods in genetic analysis and to be able of applying their knowledge in a variety of problem-solving situations.

Knowledge and understanding: knowledge and understanding of hereditary transmission, genetic ricombination, relationships between genotype and phenotype, regulation of gene expression, and the molecular bases of genetic variation and 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 experimetal 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 judgments:
Acquiring critical skills in the analysis of genetic test results and their interpretation. Awareness of the probabilistic nature of the predictions regarding the transmission of traits to offspring. Awareness of the complex relationship between genotype and phenotype and evolutionary importance of genetic variability.

Communication skills:
Ability to express the information and concepts learned through proper scientific terminology. Ability to communicate and explain in terms also fixed in non-thematic specialists regarding the inheritance and relationships between genotype and phenotype.

Learning skills:
Acquisition of basic knowledge necessary for advanced genetic studies and for the comprehensive understanding of biological phenomena, including through the development of connection capacity between the various biological processes and between disciplines.

Prerequisites

Good knowledge of cell structure and physiology, cell division (mitosis and meiosis), and DNA structure and functions.

Contents

Molecular basis of heredity. DNA as genetic material. Correlation between structure and biological function of DNA. Organization and transmission of genetic material.
Mendelian genetics. Genotype and phenotype. The methods of Mendelian analysis. The segregation and independent assortment of genes. Backcross. Correlation between Mendel laws and meiosis. Probabilistic estimates and chi-square test in genetic analysis. The rediscovery of Mendel's laws. The chromosome theory of inheritance. Discovery of sex chromosomes. Sex-linked inheritance. Mendelian inheritance in humans: pedigree analysis.
Extention of Mendelian analysis. Multiple alleles. Codominance and incomplete dominance. Dominant and recessive traits. Modified Mendelian ratios. Complementation. Environmental effects on phenotypic expression.
Discovery of gene linkage. Recombination and crossing over. Linkage maps through recombination analysis. Two-point and three-point crosses. Double crossover and interference. Molecular markers. Mapping of human genes.The Human Genome Project.
Mutations. Point mutations. Mutations of chromosome structure and number. Somatic and germline mutations. Mutations and evolution.
Transposition and transposable elements. Transposable elements in prokaryotes; transposable elements in eukaryotes. Genetic consequences of transposition.
Extranuclear inheritance. Transmission mode of mitochondrial and chloroplast genomes. Examples of extranuclear inheritance. Maternal inheritance and maternal effect.
Differentiation in eukaryotes. Housekeeping genes and regulated genes. Control levels of gene expression in eukaryotes. Dosage compensation and X chromosome inactivation in mammals. Differential gene activity in tissues and development. Genetic control of development in experimental organisms.
Population genetics. Analysis of the genetic structure of populations: allelic and genotypic frequencies. Estimation of genetic variability: mean heterozygosity, % polymorphic loci. The Hardy-Weinberg law for autosomal and X-linked loci and its application. Factors affecting genetic variation: mutation, migration, genetic drift, natural selection.
Genetics of quantitative traits: The nature of continuous characters. Genetic analysis of quantitative traits. Heritability. Estimation of heritability.
Laboratory practice: DNA extraction from animal tissues, restriction enzymes digestion of eukaryote and lambda DNA, preparation of agarose gel and electrophoretic separation of DNA fragments, visualization and determination of the fragments size.

Teaching Methods

Lectures, seminars, practice on problem solving, assessment tests, laboratory practice.

Verification of learning

The assessment is based on exams with open-answer, multiple-choice, and an oral interview at the end of the course.
The final judgement will be based on:
a) Capacity of expression;
b) Use of scientific terminology relevant to the course;
c) Understanding of the topics covered in the course;
d) Ability to connect the concepts and situate them within a logical framework;
e) Ability to use theoretical information to analyze and interpret experimental data.
Final grade:
a) Sufficient (18 to 20/30)
The applicant demonstrates modest ability of expression, but still sufficient to support a coherent dialogue. Few concepts acquired, superficial level, many gaps, and ekementary level of conceptual links. Poor ability to use the acquired knowledge in the analysis of experimental results;
b) Satisfactory (21 to 23)
The applicant demonstrates ability of expression more than sufficient to support a coherent dialogue. Acceptable mastery of the scientific language. Fair acquisition of knowledge but lack of depth, a few gaps, and conceptual links of moderate complexity. Fair ability to use the acquired knowledge in the analysis of experimental results;
c) Good (24 to 26)
The applicant demonstrates satisfactory skills with significant mastery of the scientific language. Rather large notions of moderate depth, with small gaps. Ddialogical and critical capacity well detectable. Good ability to use the acquired knowledge in the analysis of experimental results;
d) Outstanding (27 to 29)
The applicant demonstrates considerable expressive capabilities and high mastery of the scientific language. Very extensive notions, good depth, with marginal gaps. Remarkable dialogical capacity, good competence and relevant aptitude for logic synthesis. Remarkable ability to use the acquired knowledge in the analysis of experimental results;
e) Excellent (30)
The applicant demonstrates high capacity and high mastery of the scientific language. Very extensive and in-depth notions, gaps irrelevant. Excellent dialogical aptitude to make connections between different subjects. Excellent ability to use the acquired knowledge in the analysis of experimental results
The honor is attributed to candidates clearly above average.

Texts

Russel P.J., 2014. Genetica . Un approccio molecolare. Pearson
Griffiths A,J.F. et al., 2013. Genetica. Principi di analisi formale. Zanichelli
Hartl D.L. & Jones E.W. 2010. Genetica. Analisi di geni e genomi. EdiSEs

More Information

Ppt files of the class lectures, practice tests and problems.

Questionnaire and social

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