The course aims to familiarize students with the fundamental laws of hereditary transmission of both Mendelian and complex characters, including the exceptions of neomendelism, helping them to understand the scientific process that, starting from these laws, has demonstrated the genomic, chromosomal and genic basis of characters. The student will learn the organization of the various genomic systems and the methods used for their analysis and mapping, the basic mechanisms of how genes work, the control of their expression and the inheritance of genetic material. The student will also learn the types of mutations (genome, chromosome and gene mutations), their origin and phenotypic effect, the genetic variability in populations and species and the basic principles of the study of evolution. The student will also learn how to interpret, through both a formal and molecular approach, the principal themes of genetics, with particular emphasis on cytogenetics, genetics of development and population, human genetics and cancer.

PART I: INTRODUCTION

Living organisms and their characteristics. Genetics in the field of life sciences

PART II: CLASSICAL GENETICS

A - MENDELISM: THE BASIC PRINCIPLES OF INHERITANCE

Continuous and discontinuous traits. Mendel's hybridization experiments: self-fertilization and cross-fertilization. The first law of Mendel: the principle of the segregation of the characters. Concepts of homozygous and heterozygous, of dominance and recessivity. Genotype and phenotype. Testcross. The Second Law of Mendel: the principle of independent assortment of characters. The Punnett square. The Rule of the product and of the sum.

B - EXTENSIONS OF MENDELISM

Dominance relations: incomplete dominance and co-dominance. Essential genes and lethal factors. The pleiotropy. Interactions between genes: complementation and epistasis. Polyalleles and gene families. The Sex-limited traits. Penetrance and expressivity

C - THE CHROMOSOMAL THEORY OF INHERITANCE
The cell cycle and mitosis. The sexual reproductive cycles and meiosis. The chromosomal basis of inheritance. Proofs of the chromosome theory of heredity. Experiments of Morgan and Bridges. Sex-linked inheritance. Association and exchange. Linkage mapping by two-point testcross

D - GENETICS OF COMPLEX TRAITS (QUANTITATIVE GENETICS)

Qualitative, quantitative, multifactorial and threshold traits. Polygenic and multifactorial inheritance. Experiments of Johannsen, Nilsson-Ehle and East

PARTE III: GENETICA MOLECOLARE

A - THE GENETIC MATERIAL

Demonstrations that lead to discovery of DNA as heritability molecules : the Griffith, Avery & Co, Hershey-Chase, Meselson and Stahl experiments. The Watson and Crick DNA model. The deciphering of the genetic code: the Nirenberg and Matthaei experiment.

B – GENOMIC SISTEMS

The genomic systems of living organisms. Prokaryotes and eukaryotes. Structural characteristics of viral and bacterial chromosomes. Mitochondrial and plastid chromosomes. Structural characteristics of eukaryotic chromosomes. Nucleosomes and chromatin. Euchromatin and heterochromatin. Heterochromatin facultative and constitutive. Morphology and molecular structure of chromosomes. Telomeres and centromeres. The coding DNA and eukaryotic gene structure (introns and exons and other components associated with the coding DNA. The non-coding DNA: satellite DNA, LINE and SINE sequences. The transposable elements.

C – FUNCTIONING OF GENOMIC SYSTEMS

Replication, transcription and translation of DNA. Transformation; conjugation; transduction; Genetic analysis of bacteriophages. Lysogeny; the unit of mutation, recombination and  function: Benzer; recombination and complementation. The control of gene expression. the concept of operon; lac operon; Positive and negative control; trp operon; lysogenic cycle of lambda phage. The gene theory.
D - GENE MUTATIONS;

The point mutations and deletion, insertion and gene substitutions. Transitions, transversions, missense, nonsense, neutral, silent and frameshift mutations. Dynamic mutations. Spontaneous and induced mutations. Chemical mutagens (base analogs and intercalators, agents that modify the bases), physical (X and UV rays) and biological. Ames test. DNA repair mechanisms; inherited human diseases with defects in DNA repair.
E- THE TECHNIQUES OF MOLECULAR GENETICS
Ultracentrifugation and electrophoresis. Genetic engineering (Restriction enzymes, recombinant DNA, vectors, cDNA, PCR; RT-PCR). Sanger sequencing and Next Generation Sequencing (NGS). Molecular phylogeny (RAPD, AFLP, microsatellites and SNPs). Microarrays. Genome-wide association study. Genomics on the WEB. Systematic molecular (study of databases, sequence alignment); Genomics and proteomics

PART IV: CYTOGENETICS
The chromosome sets and the karyotype. Cytogenetics techniques. Alterations in the karyotype. Polyploidy and haploidy. Auto-allo-polyploidy. Aneuploidy. Deletions, duplications, inversions and chromosomal translocations and their consequences. The polytene chromosomes in Drosophila.

PART V: POPULATION GENETICS
Species concept. Genetic and environmental causes of variability. Genotypic and allelic frequencies. The Hardy-Weinberg-Castle law. Heterozygosity. The parameters that describe the genetic variability of a population. Factors that promote or reduce the genetic variability. Genetic drift: the founder effect and the effect of bottleneck. The effective size of the population. Migration and natural selection: directional and balancing. Inbreeding: causes and consequences;

PART VI: SPECIAL GENETICS
A - GENETICS OF DEVELOPMENT
Control pathways of gene expression on the ontogeny and development. Determination and differentiation. Somatic and germ cells. Totipotent, pluripotent and multipotent stem cells. The developmental genes: maternal effect genes, segmentation genes, dorsal-ventral pattern genes and hox genes

Environmental and genetics sex determination. Sex determination in Drosophila and Caenorhabditis. Sex determination and differentiation in mammals. Mechanisms of dosage compensation for X-linked genes in Drosophila, Caenorhabditis and mammals.

B - HUMAN GENETICS AND CYTOGENETICS 
Applications in human genetics of the Mendel's principles. Pedigree analysis. Mendelian and complex diseases. Human karyotype and its abnormalities. Chromosomal abnormalities at conception, in miscarriages and in newborn. Autosomal and sex chromosome syndromes. Genetics of intersexsuality .

C - IMMUNOGENETICS AND GENETICS OF CANCER
Universal immunity characteristics. The immune systems in prokaryotes and eukaryotes. Genetics of aging and longevity. Th control of the cell cycle. Oncogenes and tumor suppressor genes. Mutations that induce tumor formation and patterns of inheritance of cancer
PART VII - BIOETHICS
The bioethics and its models. The Nuremberg Code and the human experimentation.   The medically assisted reproduction and control of the so-called the beginning of life. Cloning and stem cells. Genetic testing and genetic data. The gene therapy. The control of genetically based diseases. Genetic counselling. Preimplantation, prenatal and postnatal genetic testing

no

D1 - Knowledge and understanding
 To pass the exam the student must:
a) acquire the basics of the fundamental elements of Genetics, as meiosis and transmission of characteristics and deviations from the principles of Mendelian genetics; understand the basics of inheritance of complex traits; possess the information necessary for the understanding of the molecular basis of human diseases in simple genetic transmission;
b) understand the structure of DNA and its replication and the use of the genetic information contained in it; understanding how is the regulation of gene expression in prokaryotes and eukaryotes;
c) understand the organization of the genome and its variations at the various levels
d) acquire the basics of population genetics;
e) acquire the basics of bacterial genetics;
f) acquire basic knowledge of genetic engineering methods;

D2 - Ability to apply knowledge and understanding
 The student must:
 demonstrate the ability to critically analyze and to solve problems related to the hereditary transmission mechanisms;
acquire basic knowledge of molecular genetics and genetic engineering

D3 - Making judgments
Students must:
a) the ability to understand and critically discuss concepts about heredity;
b) the ability to grasp the connections between the transmission of genes and chromosomes at meiosis and inheritance of characters, foreseeing the consequences of alterations of the normal mechanisms of inheritance;
c) potential biotechnological applications of the acquired knowledge in molecular genetics

D4 - Communication skills
The student must:
a) demonstrate the ability to extract and synthesize relevant information from a text;
b) demonstrate the ability to clearly and effectively communicate both orally and in writing, using appropriate terminology;
c) have the ability to transmit the acquired knowledge in a clear and understandable and accessible to unqualified persons.
D5 - Learning skills
The student will:
a) be able to read, understand and review a genetic scientific text in order to use them in everyday contexts for the study and research;
b) have the ability to use this knowledge to address genetic questions

The teaching material prepared by the lecturer in addition to recommended textbooks (such as for instance slides, lecture notes, exercises, bibliography) and communications from the lecturer specific to the course can be found inside the Moodle platform › blended.uniurb.it

Attendance

no

Course books

Sergio Pimpinelli - GENETICA  - Casa Editrice Ambrosiana

Assessment

Written test. You can access to the oral examination with a score of 17 out of 30 

Disabilità e DSA

Le studentesse e gli studenti che hanno registrato la certificazione di disabilità o la certificazione di DSA presso l'Ufficio Inclusione e diritto allo studio, possono chiedere di utilizzare le mappe concettuali (per parole chiave) durante la prova di esame.

A tal fine, è necessario inviare le mappe, due settimane prima dell’appello di esame, alla o al docente del corso, che ne verificherà la coerenza con le indicazioni delle linee guida di ateneo e potrà chiederne la modifica.