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.

Introduction

The science of Genetics; history of genetics; genotype and phenotype.

Mendel's laws of heredity

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. Family tree analysis in human genetics: mendelian diseases.

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.

The chromosomal theory of inheritance

Cell cycle and mitosis. 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 and nondisjunction: Turner and Klinefelter syndromes. Sex chromosomes: X-linked genes; Y-linked genes. Autosomal inheritance. Association and exchange. Linkage mapping by two-point testcross.

Inheritance of complex traits (quantitative genetics)

Qualitative, quantitative, multifactorial and threshold traits. Polygenic and multifactorial inheritance: Quantitative Trait Loci (QTLs). Experiments of Johannsen, Nilsson-Ehle and East. Estimating heritability from twin studies.

Structure and function of genes

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. Structure of nucleic acids; functions of the genetic material; replication of DNA; RNA transcription and gene expression. RNA processing and translation. The genetic code.

The molecular structure of chromosomes

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.

Mutations

The point mutations and deletion, insertion and gene substitutions. Transitions, transversions, missense, nonsense, neutral, silent and frameshift mutations. Dynamic mutations and fragile X syndrome. Spontaneous and induced mutations. Chemical (base analogs and intercalators, agents that modify the bases), physical (X and UV rays) and biological mutagens. Ames test. DNA repair mechanisms; inherited human diseases with defects in DNA repair.

Chromosome rearrangements: deletions, duplications, inversions and chromosomal translocations.
Changes in the number of chromosomes: Polyploidy and haploidy, Auto-allo-polyploidy, Aneuploidy. Aneuploidy in Humans: monosomy and trisomy.

Robertsonian translocations and their evolutive consequences.

Functioning of genomic systems

Transformation; conjugation; transduction; Genetic analysis of bacteriophages. Lysogeny; the unit of mutation, recombination and  function: Benzer; recombination and complementation.

Gene regulation

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.

Gene regulation mechanisms in mammals. 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. Epigenetic regulation of gene expression.

Non Mendelian inheritance

Mitochondrial inheritance; genomic imprinting.

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.

Immunogenetics and genetics of cancer

Universal immunity characteristics. The immune systems in prokaryotes and eukaryotes.

MHC/HLA complex. Somatic recombination of immunoglobulin gene segments. Genetics of aging and longevity. The control of the cell cycle. Oncogenes and tumor suppressor genes. Mutations that induce tumor formation and patterns of inheritance of cancer.

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.

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 bridging courses

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

Teaching

Traditional whole class teaching    

Attendance

No

Course books

Benjamin A. Pierce - Genetica, seconda edizione italiana - Zanichelli

Peter J. Russell - Genetica, un approccio molecolare, quarta edizione - Pearson

Sergio Pimpinelli - Genetica - Casa Editrice Ambrosiana

Bruno Dallapiccola, Giuseppe Novelli - Genetica medica essenziale - CIC Edizioni Internazionali

Assessment

The final evaluation of the course consists of both written and oral examination, in order to evaluate the acquired knowledge, reasoning skills, communication skills and ability to solve practical problems in accordance with previous indicated Dublin descriptors.

The written exam, to be carried out in 90 minutes, consists of a series of exercises and multiple choice questions on the topics of the course. The written test is considered passed if the mark is, at least, 18/30. The oral examination will focus on the topics of the course. The oral exam can be taken only if the written evaluation has been passed.

Disability and Specific Learning Disorders (SLD)

Students who have registered their disability certification or SLD certification with the Inclusion and Right to Study Office can request to use conceptual maps (for keywords) during exams.

To this end, it is necessary to send the maps, two weeks before the exam date, to the course instructor, who will verify their compliance with the university guidelines and may request modifications.

Teaching

Same as attending students.

Attendance

No

Course books

Same as attending students.

Assessment

Same as attending students.

Disability and Specific Learning Disorders (SLD)

Students who have registered their disability certification or SLD certification with the Inclusion and Right to Study Office can request to use conceptual maps (for keywords) during exams.

To this end, it is necessary to send the maps, two weeks before the exam date, to the course instructor, who will verify their compliance with the university guidelines and may request modifications.

For further informations, please contact the Teacher via mail or by phone at +39-0722-303439.