15950 - Biology and Genetics (AK-A)

Course Unit Page


This teaching activity contributes to the achievement of the Sustainable Development Goals of the UN 2030 Agenda.

Good health and well-being Quality education

Academic Year 2021/2022

Learning outcomes

Biology : at the end of the course the student is able to relate the main functions of the cell with its structure. The student knows the cellular processes and has expertise on aspects of regulation: gene regulation and the main mechanisms that govern the differentiation and cellular specialization, regulation of motility, the concepts of communication between cells, cell cycle and apoptosisregulation. Also in the study of human reproduction he knows the regulatory aspects. The student is able to apply the concepts learned to deal with biomedical problems related to regulatory mechanisms and their possible alteration.
Genetics: at the end of the course, the student has acquired: the knowledge of the fundamental concepts regarding the genetic information and the mechanisms related to its conservation, expression and transmission; knowledge of the concept, the structure and the function of gene and genome; knowledge of the phenomena associated with the different modalities of hereditary characters transmission, and genetic variability: polymorphisms, mutations and population genetics; a methodological approach aware of the use of advanced technologies in molecular genetics; the ability to apply the knowledge gained to biomedical problems.

Course contents

Gene and genome
Introduction to Genetics. Branches of Genetics and relations with the Medicine.
Molecular structure of DNA and genetic information. Concept of information. Genetic information in humans.
The gene: concept, structure and function. Evolution of the concepts of "gene" and "code". Alternative modes of operation of the gene.
Genome. Organization and variability of the human genome. Number, structure and function of human genes. NcRNA genes.
Families of DNA sequences. Similarity and homology. Gene families. Paralogy and orthology. Pseudogenes.
Families of repeated sequences not gene: tandem repeats (satellites, minisatellites and microsatellites); repetitive DNA "dispersed" (LINE, SINE, SVA, LTR and DNA transposons).

Human karyotype. Analysis method of the human karyotype. Number, shape and banding pattern of human chromosomes.
Significance of Mendel's experiments.
Dominance, recessivity, homozygosis and heterozygosis. Familiar, congenital, genetic, hereditary character.
Autosomal dominant inheritance (eg, achondroplasia, essential thrombocythemia).
Autosomal recessive inheritance (eg red hair; albinism).
Codominance. Inheritance of the ABO system. H substance and Bombay phenotype.
Inheritance of the Rh system. Maternal-fetal incompatibility for the Rh blood group.
Genetic sex determination. Structure, function and molecular evolution of the X and Y chromosomes.
Sex-linked inheritance (eg, hemophilia). X chromosome inactivation.
Genetic association and crossing-over. The genetic association as an exception to the second law of Mendel.
Mitochondrial inheritance. Structure, genes, function and mitochondrial DNA mutation. Applications in the biomedical sciences.
Epigenetics. Genomic imprinting. Transmission of genes subjected to imprinting.

Genetic variability
Mutation. Polymorphism. Classification: cause, cell type, biological effect, extension. Mechanisms of gene mutations.
Effects of gene mutations (substitutions, deletions, insertions) in the gene product depending on the localization in the gene.
Chromosomal mutations of structure: mechanisms and effects. Intra-chromosomal abnormalities (deletions, inversions) and their effects.
Inter-chromosomal abnormalities: reciprocal translocations, autosomal and X-Robertsonian translocations. Effects.
Chromosomal mutations of number. Poliplodia and aneuploidy: mechanisms and effects. Trisomy 21.

Multifactorial inheritance
Interaction between genes, epistasis, penetrance and expressivity. Multifactorial inheritance. Methods for the study of complex traits. The twins.
Theory of polygenic multifactorial quantitative (eg, height, blood pressure) and discontinuous (eg, cleft lip and palate) traits.

Population Genetics
Concepts of species and Mendelian population. Gene pool. The Hardy-Weinberg equilibrium and its applications in Medicine.
Forces modifying the Hardy-Weinberg equilibrium: mutation, migration, genetic drift, selection and assortative mating.



De Leo G, Ginelli E, Fasano S.

Biologia e Genetica. IV Edizione. EdiSES, 2020.

- Fantoni, Bozzaro, Del Sal, Ferrari, Tripodi. Biologia cellulare e genetica: parte seconda - Genetica. Piccin, 2009.
- Strachan, Read. Genetica molecolare umana. Quinta edizione. Zanichelli, 2021.

Or other text of Genetics at university level (for Courses of Medicine).

Teaching methods

Frontal lessons, video and discussion of some topics.

Assessment methods

Oral examination.

Teaching tools

- Video projection of slides with images and diagrams related to the topics discussed.
- Possible consultation of educational web sites.
- Selection of scientific articles for in-depth update.

Teaching materials available on IOL.

Links to further information


Office hours

See the website of Lorenza Vitale