Combined Bachelor's + Master's degree in Medicine and Surgery

Genetics and Molecular Biology - GENETICA MOLECOLARE

Course code
Name of lecturers
Cristina Bombieri, Elisabetta Trabetti
Number of ECTS credits allocated
Academic sector
Language of instruction
Lezioni 1° semestre 2°- 6° anno dal Oct 1, 2018 al Dec 21, 2018.

To show the organization of the course that includes this module, follow this link * Course organization

Lesson timetable

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Learning outcomes

The Course aims to provide the basic knowledge of human and molecular genetics in order to be able to understand the principles of transmission of normal and pathological hereditary tracts, as well as the mode of occurrence of hereditary biological variability in single individuals, families and populations.
At the end of the Course students should demonstrate to have acquired knowledge about DNA polymorphisms, population genetics and methods for investigation of human diseases. They also should demonstrate to have acquired basic knowledge on cancer genetics and to be able to derive the frequency of the disease gene/allele frequency in populations.


DNA polymorphisms: RFLPs, VNTRs, minisatellites, microsatellites, SNPs, CNVs. Karyotype polymorphisms. Definition, analysis methods and their applications: individual identification, paternity testing, criminal investigations, mixed and complete chimerism following bone marrow transplantation, hydatidiforme mole. Examples of cases analysed in the Biology and Genetics Section.

Linkage analysis: use of DNA markers; linkage disequilibrium, informativeness of a family with a gene associated DNA marker; factors determining diagnostic accuracy in linkage analysis, usefulness of the flanking markers. Examples of investigations performed at the labs of the Biology and Genetics Section.

Molecular genetics in medicine.
Diagnosis of genetic diseases by DNA analysis: functional and positional cloning, identification of disease gene and pathological gene mutations, analysis of frequency and geographical distribution of mutations, direct and indirect methods for gene mutation analysis.

Population genetics.
Mendelian population and gene pool. Hardy-Weinberg law: definition, calculation of allele and genotype frequencies, equilibrium assessment, examples and problems. Assumption for H-W Equilibrium and disturbing factors: genetic drift, founder and bottleneck effect, geographic isolated, inbreeding, mutation, selection, migration, heterozygote advantage. Variability and human evolution.

Examples of the genetic disease study
Inherited disorders of hemoglobin: alpha and beta-thalassemia, sickle-cell disease, HPFH. Evolution of globin genes, globin gene clusters, orthologous and paralogous genes. Clinical terminology and main thalassemia mutations, Hemoglobin Lepore. Hemoglobinopathies and heterozygote advantage.

Cystic fibrosis (CF): clinical features, positional cloning and identification of CFTR gene, most frequent mutations, CF mutation classification, genotype-phenotype correlation. Complexity in Mendelian diseases: cystic fibrosis and related phenotypes, modifier genes.

Genetics of cancer. Tumors as multifactorial and somatic genetic diseases; clonal origin of cancer. Tumor genes (classification and characteristics) and cellular cycle: proto-oncogene (cellular oncogene, c-onc), tumor suppressor gene, mutator genes. Proto-oncogene products and their involvement in normal cellular function. Activation mechanisms of proto-oncogene and tumor suppressor gene; Knudson two hits model, loss of heterozygosity (LOH), genomic instability - microsatellite instability (MIN); mutator genes and examples of AD, AR genetic diseases associated with cancer. Sporadic and hereditary forms. Examples: CML-philadelphia chromosome, Burkitt lymphoma, retinoblastoma, colorectal cancer, familial adenomatous polyposis (FAP), HNPCC. Notes on miRNAs and their involvement in cancer.

Attendance to lessons is mandatory, as specified on the teaching regulation. The course will be delivered through frontal lessons covering the whole exam program and aimed at achieving the learning outcomes of the course. To refine the student's ability to apply the acquired knowledge in real situations, practical examples, exercises and problems will be proposed in the field of diagnostic and/or research in human molecular and medical genetics.
Besides the reference texts, oral explanations will be coadiuvated by PowerPoint presentations. Summaries of these presentations, further insights and other additional didactic materials, possible updatings and communications, from both uints, will be made available to students, in pdf format for download, through a dedicated homepage on the University e-Learning platform, troughout the course.
During the whole Academic Year, students may request personal reception to the teachers, by e mail or phone.

Reference books
Author Title Publisher Year ISBN Note
Ghisotti - Ferrari Eserciziario di genetica Piccin 2015
Neri G. e Genuardi M. Genetica Umana e Medica (Edizione 4) EDRA LSWR - Masson 2017

Assessment methods and criteria

The final examination consists of a written test, the same for the two modules (molecular and medical genetics), consisting of multiple choice questions, open questions and exercises. The written test, if passed with a score equal to or greater to 18/30, is followed by a unique oral test.
In order to pass the molecular and medical genetics part, students should demonstrate to have learned the knowledge of the topics in the programme, and apply the newly learned skills to distinguish the various types of inheritance, interpret pedigree and genetic data, recognise the different mutations and genetic factors involved in genetic disease development, assess genetic recurrence risks, calculate and analyse gene frequencies in populations, also solving the proposed exercises.
Analyse pedigrees, solve the proposed exercisesObjective of the written test: to evaluate the comprehension of the topics contained in the teaching programme as exercises and questions. The score obtained in the written test will be decisive for the final mark.
Objective of the oral test: to assess an advanced comprehension of the programme topics, and the ability to present the arguments in a critical and precise way, using an appropriate scientific language.
The final score is in thirtieths (.../30). The test of molecular and medical genetic modules is passed if the score is equal to or greater than 18/30. The positive evaluation of this part remains valid only for the current academic year.


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