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

Genetics and Molecular Biology (2016/2017)

Course code
Alberto Turco

Teaching is organised as follows:
Unit Credits Academic sector Period Academic staff
BIOLOGIA MOLECOLARE 6 BIO/11-MOLECULAR BIOLOGY Lezioni 1° semestre 2°- 6° anno Donato Zipeto
GENETICA MOLECOLARE 3 BIO/13-EXPERIMENTAL BIOLOGY Lezioni 1° semestre 2°- 6° anno Cristina Bombieri
Elisabetta Trabetti
GENETICA MEDICA 6 MED/03-MEDICAL GENETICS Lezioni 1° semestre 2°- 6° anno Giovanni Malerba
Alberto Turco

Learning outcomes

To understand the fundamental processes of the science of DNA and the flow of information that leads from DNA to RNA to proteins. To understand mechanisms, function and regulation of these processes. To educate medical students to the scientific method through the description of experiments that allowed the elucidation of molecular biological mechanisms. To understand recombinant DNA technologies and their potential.

The course aims to provide the basic knowledge of the principles and mechanisms of human and molecular genetics responsible for the transmission of normal and abnormal characters in humans, as well as the mode of occurrence of hereditary biological variation.

Professionalizing objectives
The course aims to provide the future doctor with the knowledge and tools necessary to be able to advise the patient and his family in presence of a genetic or hereditary disease, about the nature of the disease, its incidence, prognosis, risks recurrence, preventive options, available therapeutic and reproductive options, and of the available genetic tests, whether diagnostic, symptomatic, predictive, pre- or post-natal. At the end of the course the student should be able to ask the appropriate questions to draw and interpret human pedigrees, distinguish different types of inheritance, request genetic tests to confirm (or exclude) a suspected genetic disease and interpret their results, knowing how to efficiently counsel patients and families about the nature of genetic disease, as well as to assess recurrence and occurrence of reproductive genetic risks (genetic counselling), indicating possible genetic and environmental causes in multifactorial diseases, enumerating the possible causes and types of gene mutation and be able to derive the frequency of the disease gene/allele frequency in populations.


- General Genetics. Mendel’s laws in man (dominant, recessive, X-linked and mitochondial inheritance) and atypical inheritance patterns. Example of mendelian diseases.
- Diseases due to unstable tripleat expansion.
- General and medical cytogenetics. Standard and pathological human karyotype. Chromosome anomalies, numerical and structural. Microdeletions disorders.
- Epigenentics and genomic imprinting. Uniparental Disomy. Cytogenetic pre- and post-natal diagnosis.
- Mutations, mutagenesis and DNA repair.
- Complex (Multifactorial) inheritance: Genetic susceptibility to complex diseases. Genome scans and genome association studies (GWAS).
- Exome, Genome, Transcriptome: definition and analysis. Bioinformatics and Genomics.
- Pharmacogenetics.
- Clinical Genetics: Genetic Counselling. Pedigree drawing and interpretation. Genetic risks estimation. Pre and post-natal counseling. Prenatal and Preimplantation Genetic Diagnosis. Prevention and treatment of genetic disease. Genetic testing: diagnostic, symptomatic and asymptomatic testing, screening. Gene therapy. Regenerative medicine: stem cells. Bioethical and social issues.

- Human Genome Organization. DNA polymorphisms.
- Gene mapping. Linkage analysis.
- Mutation identification and molecular diagnosis of genetic diseases.
- Population genetics: Assessment of allelic and genotypic frequencies. Hardy-Weinberg Law. Factors disturbing H-W equilibrium.
- Examples of genetic diseases study: Inherited disorders of hemoglobin. Cystic Fibrosis
- Cancer genetics.

• Structure and conformations of DNA
• Complexity of genomic DNA • DNA structure in chromosomes • DNA replication
• DNA repair
• Recombination
• Transcription in prokaryotes and eukaryotes
• Maturation of RNA
• Genetic Code
• Translation
• Regulation of gene expression in prokaryotes
• Regulation of gene expression in eukaryotes
• Degradation and trafficking of proteins
• DNA recombinant technology and recombinant DNA
• Molecular evolution
• An outline of gene therapy

Assessment methods and criteria

Two contextual written tests (one for Medical Genetics and one for Molecular Biology), including multiple-choice quiz, open questions and exercises. Subsequent oral tests, subject to positive evaluation of both the written tests.
The oral exam consists of questions on the part of genetics to all students and questions on the molecular biology program for students which have received assessments less than / equal to 19 or greater than / equal to 29 and chosen by the student for intermediate scores .

Reference books
Author Title Publisher Year ISBN Note
Neri G e Genuardi M Genetica Umana e Medica (Edizione 3) EDRA LSWR - Masson 2014 978-88-217-3743-4
Amaldi, Benedetti, Pesole, Plevani Biologia Molecolare (Edizione 3) Ambrosiana 2018 978-88-08-18518-1
R. F. Weaver Biologia Molecolare (Edizione 2) McGraw Hill 2009 978-88-386-6507-3
WATSON James D , BAKER Tania A , BELL Stephen P , GANN Alexander , LEVINE Michael , LOSICK Richard Biologia molecolare del gene (Edizione 7) Zanichelli 2015 978-88-08-36480-7
Terry A. Brown Biotecnologie molecolari (Edizione 2) Zanichelli 2017 978-88-08-32096-4 Principi e tecniche utilizzate in biologia molecolare
Brown Genomi (Edizione 3) EdiSES 2008

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