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BIOLOGICAL SCIENCES

Academic year and teacher
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Versione italiana
Academic year
2022/2023
Teacher
VALENTINA GENTILI
Credits
7
Didactic period
Primo Semestre

Training objectives

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Modulo: 015421/1 - GENETICA MEDICA
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To provide basic knowledge of formal, human and medical genetics. To make the student able to apply genetic principles in the study of hereditary pathological conditions and to have the knowledge bases for the subsequent learning of cytogenetics and molecular medical genetics technologies.

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Modulo: 26849 - BIOLOGIA APPLICATA
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APPLIED BIOLOGY
Know the main functions of the cell and the mechanisms related to the preservation, expression and transmission of genetic information. Know the different biology approaches and techniques applied to diagnostic and scientific laboratories.

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Modulo: 53065 - MICROBIOLOGIA GENERALE
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MICROBIOLOGY
Knowledge of: composition, structure and biology of Bacteria, Viruses and Fungi; pathogenic mechanisms by which they induce disease; interactions between microbes and infected host. Knowledge of laboratory diagnosis of infectious diseases.
Being able to recognize the basic differences between the various microbes in order to choose the most appropriate diagnostic method.

Prerequisites

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Modulo: 015421/1 - GENETICA MEDICA
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MEDICAL GENETICS
Basic elements of biology and statistics

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Modulo: 26849 - BIOLOGIA APPLICATA
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APPLIED BIOLOGY
Basic biology

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Modulo: 53065 - MICROBIOLOGIA GENERALE
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MICROBIOLOGY
Knowledge of: structure and function of cell components; structure and synthesis of proteins and nucleic acids, cellular and molecular basis of specific and non specific immune response.

Course programme

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Modulo: 015421/1 - GENETICA MEDICA
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Mendelian genetics: Phenotype, genotype, independence, segregation; Dominance, recessivity, back-cross; Genealogic trees, AD and AR heredity; Probability, Bayes theorem.
Sex-linked genetics and Gender medicine.
Cytogenetics: Human normal karyotype; Lyonization, Chromosomal mutations.
Extensions of Mendelian genetics: Multiple alleles, codominance, intermediate dominance, lethal genes; Complementation, gene interaction. Penetrance, variable expressivity, late onset diseases.
Genetic recombination: Complete and incomplete association; meiotic crossing-over; Linkage maps.
Genomics: Human genome organization; Eukaryotic gene structure; DNA polymorphisms, gene mutations.
Quantitative traits and population genetics: Continuous phenotypes, polygenic and multifactorial heredity; Hereditability, Phenotypic, genotypic and genic frequencies; Hardy-Weinberg law; alteration of HW equilibrium.

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Modulo: 26849 - BIOLOGIA APPLICATA
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APPLIED BIOLOGY
Biological molecules: carbohydrates, lipids, proteins and nucleic acids. Prokaryotic cells, Eukaryotic cells: organelles. Biological membranes. Cell cycle, mitosis and meiosis. Structure and DNA replication. Genome organization. Transcription and translation. Laboratory techniques of cellular and molecular biology.

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Modulo: 53065 - MICROBIOLOGIA GENERALE
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MICROBIOLOGY
General Bacteriology: Structure and composition of prokaryotic cell. Microbial metabolism. Energy production mechanisms. Bacterial division. Sporulation and endospore germination. Disinfection and sterilization. Microbial growth. Microbial genetics. Bacterial pathogenesis: virulence and toxigenicity. Eso and endotoxins. Defenses of the host: antigens and antibodies. Diagnostic immunology. Vaccines and sera. Antimicrobial drugs. Drug resistance. Test for microbial susceptibility to antimicrobial drugs.
General Virology: Chemical composition and viral structure. Classification of viruses. Viral multiplication. Cultivation and titolation of viruses. Viral pathogenicity and pathogenesis of viral diseases. Antiviral defenses of the host. Antiìviral drugs and interferons.
General Mycology: Morphology, metabolism, sexual and asexual reproduction. Fungal pathogenesis. Mycotoxins. Antifungal drugs. Cultivation of fungi. Diagnosis.
Protozoa. General characteristics. Amoebae: Entamoeba histolytica. Flagellates: Trichomonas. Plasmodia. Toxoplasma.

Didactic methods

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Modulo: 015421/1 - GENETICA MEDICA
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lectures

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Modulo: 26849 - BIOLOGIA APPLICATA
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Lectures, including slides that will be made available on the course minisite.

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Modulo: 53065 - MICROBIOLOGIA GENERALE
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lectures

Learning assessment procedures

The exam consists of 3 parts.
APPLIED BIOLOGY: The oral or written exams will be conducted online or in presence according to the University's indications and guidelines. The test includes a written test consisting of 31 questions, some of which with a closed answer and some open-ended. For each correct answer 1 point. Verification with 31 positive responses on / 31 total, provides a score of 30/30 and laud. The written test lasts 45 minutes. The oral exam will consist of 3 open questions on the topics presented in class.
MICROBIOLOGY:
Written exam: multiple choice quiz. 32 questions with 5 answer options, you can get 1 point for the correct answer, 0 points for the wrong one. Running time 30 minutes.
MEDICAL GENETICS: written test and oral exam. The written test consists in 11 open-ended questions, covering the main subjects of the module program, and corresponding to medical genetica problems and definitions. The estimated time for the test is 90 minutes. To each question a score of 3 points is assigned. The overall score is normalized to 30. To proceed with the oral test students must reach at least 18 points out of 30. The oral test is carried out the same day and consists of an interview with references to questions of the written tests and investigations aimed at evaluate the learning completeness. The overall assessment of the module is given by the arithmetic mean of the written test score and that of the oral test.

Reference texts

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Modulo: 015421/1 - GENETICA MEDICA
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MEDICAL GENETICS
Clementi, Elementi di genetica medica, EdiSES ed.
Cummings M.R. (2014), Eredità. Principi e problematiche della genetica umana. EdiSES, Napoli, Italia.
Neri Genuardi, Genetica umana e medica, Masson – Elsevier ed.

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Modulo: 26849 - BIOLOGIA APPLICATA
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BIOLOGY
-De Leo, Fasano, Ginelli, Biologia e Genetica, Edizione EdiSES
-Solomom, Berg, Martin, Elementi di Biologia, Edizione EdiSES
-Stefani e Taddei, Chimica Biochimica e Biologia Applicata, Ed. Zanichelli

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Modulo: 53065 - MICROBIOLOGIA GENERALE
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MICROBIOLOGY
Handout provided by the teacher; for any supplements:
Cevenini e Sambri, Microbiologia e Microbiologia Clinica, Piccin 2004
Jawetz et al: Microbiologia Medica (22ma Ed.) Piccin, 2003