GENETICA MOLECOLARE E BIOTECNOLOGIE MICROBICHEModule GENETICA MOLECOLARE
Academic Year 2022/2023 - Teacher: Giancarlo RAPPAZZOExpected Learning Outcomes
The course aims to instruct students in the use of the main methods of investigation aimed at analyzing the genotype, in particular - in consideration of its peculiarities and the degree of in-depth analysis available today - of the human genotype. In particular, the multiple interactions between genotypes and phenotypes at the cellular-molecular level will be investigated. Students will be directed to the choice and use of on-line databases (bibliographic, thematic, sequence, structural) for molecular analysis. In addition, practical demonstrations will be carried out in the laboratory.
Course Structure
Frontal teaching in accordance with the regulations of the Degree Course.
Presentation of the topics starting from known or most relevant experimental data.
Required Prerequisites
genes, alleles, loci; segregation; Association; recombination; mutations. Phenotype and genotype. Bases of individual and specific variability. Relations between organism and environment. Structure of DNA and RNA.
Attendance of Lessons
As established by the Degree Course.
Detailed Course Content
Genetic polymorphisms and molecular markers: DNA polymorphisms; measure of heterozygosity; analysis of the association; genetic maps and physical maps. Applications of DNA polymorphism analysis to studies on evolution, pathology, anthropology, pharmacology, forensic disciplines. Duplicons and CNV: investigation methods and phenotypic effects. Main sequence databases: consultation methods and bioinformatics analysis. The study of the functional organization of chromatin; genomic imprinting and its implications for development and pathology; oncogenes and tumor suppressors; genes and loci involved in mental retardation; mitochondrial pathologies.
Textbook Information
No recommended text; scientific articles will be provided, mostly in English, for in-depth study of specific topics.
Course Planning
| Subjects | Text References | |
|---|---|---|
| 1 | DNA as a genetic material: stability, energy, mutability. | slides |
| 2 | Point mutations and DNA polymorphisms; PCR-based molecular investigation techniques: Sanger sequencing, ASO, PCR-RFLP; NGS | slides |
| 3 | Association, haplotypes, linkage equilibrium and linkage disequilibrium. Biological and methodological significance of linkage studies. Applications of polymorphisms in genetic analysis; genetic maps and physical maps. | slides |
| 4 | Main sequence databases and bioinformatic methods of consultation and analysis. | slides |
| 5 | Structural mutations; definition; Duplicons and CNVs; implications in diseases of genetic origin; study methods: microarray, FISH, MLPA, NGS. | slides and scientific papers |
| 6 | Functional organization of chromatin: Ehnancer and Silencer; interaction with the trans-acting factor; the domain of chromatin; structural chromosome proteins; chromatin activation processes. | slides and scientific papers |
| 7 | Epigenetic modification and control of transcriptional activity; DNA methylation; meaning and examples of methylated DNA. | slides and scientific papers |
| 8 | Genomic imprinting in development and differentiation; phenotypes and pathologies referable to genomic imprinting. | slides and scientific papers |
| 9 | Cancer as a genetic disease; tumor cell phenotypes; neoplastic transformation and oncogenes; cell cycle control and deregulation; Knudson's theory of multiple hits; tumor suppressors and their genetic analysis | slides and scientific papers |
| 10 | The differentiation of neuroblasts; the new definitions of mental retardation; genetic aspects of Down syndrome, ATRX syndrome, fragile X syndrome. | slides and scientific papers |
Learning Assessment
Learning Assessment Procedures
The exam will be carried out in oral form and will consist in the illustration of at least two publications, excluding reviews, concerning molecular genetics research reported in recent scientific literature. Both the ability to interpret the experimental data in a genetic sense, as well as the ability to analyze and synthesize will be evaluated. The topics will not be limited to those covered in the course, as long as the articles chosen have a clear genetic footprint.
Examples of frequently asked questions and / or exercises
Reading the data. Illustration of the results. Congruence between experimental methodology, results and conclusions
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