OVERVIEW

The teaching of molecular genetics provides students with an integrated view of the knowledge and experimental methodologies for the analysis of the structure, expression and alterations of genes and genomes. The topics will be treated through the analysis of experimental evidences and their interpretation.

AIMS AND CONTENT

LEARNING OUTCOMES

The course deals with the organization and expression of the human genome, the molecular techniques used to study gene structure and function, the epigenetic mechanisms, the strategies to generate transgenic animals.

AIMS AND LEARNING OUTCOMES

The teaching of Molecular Genetics aims to improve the knowledge and understanding of the genetic mechanisms that control and regulate gene expression, both during normal cell growth and in the case of neoplastic transformation. Tools will be provided to understand the main strategies and molecular genetic techniques used for the study of genes and genomes. The student will acquire theoretical and methodological skills that will allow him to apply the correct study methods to solve specific problems in the field of molecular genetics.

PREREQUISITES

Knowledge of the basic concepts of genetics and molecular biology is needed to address the contents of the course.

TEACHING METHODS

The teaching consists of lectures, delivered through multimedia presentations.

SYLLABUS/CONTENT

The teaching program involves the presentation and discussion of the following topics:

- DNA analysis methods: various methods of DNA amplification; principles and current applications of nucleic acid sequencing.

- Methods of analysis of gene expression: use of microarray; applications via NGS; analysis of epigenetically modified regions.

- DNA organization: chromatin and eukaryotic chromosomes. Structure and function of the centromere and kinetocore. Structure and function of the telomere; telomerase and shelterin; telomere fusion and instability.

- Human genome: structural and functional organization in the nucleus. Mitochondrial genome interaction and nuclear DNA regulation.

- Epigenetic mechanisms: methyloma analysis, genomic imprinting and syndromes associated with imprinting defects. Long non-coding microRNA and RNA.

- DNA mutations and repair: origin and types of mutations. Molecular basis of triplet expansion genetic diseases. Alteration of splicing mechanisms. Factors that influence the frequency of mutations in a population: natural selection and genetic drift.

- Human genetic diseases: molecular and cellular approaches for the study and treatment of genetic diseases. Examples of genetic diseases: cystic fibrosis, cardiomyopathies, deafness and hypercholesterolemia.

- Bioinformatics in human genetics: identification, annotation and filtering of DNA variants. Use of genetic databases.

- Cancer genetics: characteristics and capacity of cancer cells. Activation mechanisms of oncogenes (amplification, point mutations, translational chimeric gene, translocation in transcriptionally active regions). Tumor suppressor genes: genes involved in cell cycle control. Chromosomal instability in tumors. Multiphase process of tumor development: somatic mutation theory (SMT). Criticism of SMT and development of alternative theories: Tissue Organization Field Theory (TOFT).

RECOMMENDED READING/BIBLIOGRAPHY

- T. Strachan, Goodship and Chinnery, Genetica e genomica, Zanichelli, 2016

- Strachan and Read, Genetica molecolare umana, Zanichelli, 2012

Selected presentations, used during the lessons, will be available on AulaWeb at the end of each cycle of lessons dedicated to a topic of the program.

TEACHERS AND EXAM BOARD

Exam Board

DOMENICO COVIELLO (President)

SILVIA VIAGGI (President)

SERENA PATRONE

LESSONS

LESSONS START

Lessons will start on September 24th 2019 and will end by January 17th 2020.

Consult detailed timetable at the following link: https://easyacademy.unige.it/portalestudenti/

Class schedule

The timetable for this course is available here: Portale EasyAcademy

EXAMS

EXAM DESCRIPTION

The exam consists of an oral test, during which the student will answer questions asked by the teacher on topics of the teaching program.

ASSESSMENT METHODS

The final evaluation of the training course will be carried out by oral examination and will take into account both the level of knowledge and the expository capacity and reasoning skills demonstrated in the discussion of the required subjects.

Exam schedule

FURTHER INFORMATION

Class attendance is recommended.