Learning objectives
The course will be held through lectures to Students either in classroom (“in presenza”) or in synchronous-streaming (“in telepresenza”) on Teams platform. Therefore, the opportunity of Student/Teacher interaction will be preserved both face to face and remotely, by the simultaneous use of the Teams platform. Teaching methods will include movies and 3D simulation which aids the comprension of the molecular interactions and mechanisms; web sources and bibliography references will be suggested.
Lectures will be supported by slide presentations, which will be available to students on Elly platform (https://elly2020.medicina.unipr.it/).
Prerequisites
Basic concepts on cell biology.
Basic concepts of organic chemistry.
Propedeutical Biochemistry.
Basic concepts of transmission of genetic traits
Course unit content
To provide basic knowledge on the molecular aspects of the transmission of genetic information. The course initially introduces the basics of the concept of inheritance, and then introduces nucleic acids as molecules able to ensure the transmission of the genetic information through DNA replication, RNA transcription and protein translation. Then will be introduced the concept of DNA damage/mutation and the impact of DNA mutation on human health. Finally the course will provide the basis for the knowledge of the main techniques used for DNA/RNA manipulation, and their application in various fields of research, diagnosis, and treatment of human diseases.
To give the basis of Human Genetics for the understanding of the pathogenesis of the diseases with a genetic basis
Full programme
From Darwin to Mendel to the discovery of the transforming principle: bases of the transmission of genetic information.
Nucleic acids: composition and structure.
3D structure of DNA, DNA topology: coiling and supercoiling.
Topoisomerases.
Histones, chromatin, chromosomes.
Basics of epigenetic modifications of DNA and histones.
DNA replication: characteristics of DNA polymerases, replication mechanism.
Drugs that interfere with the replication process.
Replication forks, replisome assembly, replication coupling mechanisms.
Origin of replication, mechanism of origins control in eukaryotes.
Termination of replication.
The ends of linear chromosomes: telomerase.
DNA damage and mutations.
Mechanisms of damage repair: direct, indirect, double-strand break repair mechanisms.
RNA transcription in eukaryotes: characteristics of RNA polymerases, formation of the initiation complex, elongation, termination of transcription.
Characteristics of prokaryotic and eukaryotic promoters.
Regulation of gene expression in eukaryotes.
RNA maturation: capping, splicing, tailing, editing.
Notes on RNA interference.
From RNA to proteins: mechanisms and enzymes of messenger RNA translation. The genetic code.
Translation of messenger mRNA: molecules and enzymes involved.
t-RNA, ribosomes, aminoacyl-tRNAsynthetase
Stages of translation: initiation, elongation, termination.
Drugs that interfere with the protein translation process.
Classification of the genetic bases of the human diseases: mendelian and complex diseases
Classification and effect of the DNA mutations
Human chromosomes and thier numerical and structural abnormalities
The mendelian inheritance: the autosomal dominant, autosomal recessive and X-linked inheritance
Consanguineity and the calculation of recurrence risksin the recessive disesase
Elements of population genetics: Hardy-Weinberg equilibrium and its applications for the calculation of the allelic and genotypic frequencies
Examples of bayesian calculations applied to the recurrence of disease with incomplete penetrance and to the X-linked diseases.
Genetic maps and linkage analysis: general principles
Multifactorial diseases and linkage disequilibrium
Atypical inheritance: digenic, mithocondrial, imprinting
Techniques of genetic and cytogenetic analysi
Bibliography
JD Watson et al. Molecular Biology of the Gene. Person, 7h revised edition . Lodish et al. “Molecular Cell Biology” , W.H.Freeman & Co Ltd, 8th Revised edition Clark et al. “Molecular Biology” Academic Cell Press, 3rd edition
Emery's Elements of Medical Genetics and Genomics, 16th Edition, 2021 by Peter D Turnpenny, Sian Ellard, and Ruth Cleaver
Teaching methods
Lectures, including movies and 3D simulation. Web sources and references will be suggested.
Supporting material will be made available in Elly
Assessment methods and criteria
Multiple choiice questionnaire and open questions.
There is no penalty for incorrect answers.
Students with SLD / BSE must first contact Le Eli-che: support for students with disabilities, D.S.A., B.E.S. (https://sea.unipr.it/it/servizi/le-eli-che-supporto-studenti-con-disabilita-dsa-bes).
Other information
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2030 agenda goals for sustainable development
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