- Docente: Lorenza Vitale
- Credits: 9
- Language: Italian
- Teaching Mode: Traditional lectures
- Campus: Bologna
- Corso: Single cycle degree programme (LMCU) in Medicine and Surgery (cod. 8415)
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).
Inheritance
laws
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.
Readings/Bibliography
References:
De Leo, Ginelli, Fasano. Biologia e genetica. II edizione.
EdiSES, 2010.
Alternatively:
- Fantoni, Bozzaro, Del Sal, Ferrari, Tripodi. Biologia
cellulare e genetica: parte seconda - Genetica. Piccin,
2009.
- Strachan, Read. Genetica molecolare umana. Terza edizione.
UTET, 2007.
Or other text of Genetics at university level (for Courses of
Medicine).
Teaching methods
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 AMS Campus.
Links to further information
http://apollo11.isto.unibo.it/studenti/studenti.htm
Office hours
See the website of Lorenza Vitale