Ateneo - UPO

The course provides knowledge on the structure and evolution of the human genome. And organization, replication and transmission of the hereditary in prokaryotes and eukaryotes.

RUSSEL P.J. Genetica “un approccio molecolare”, Ed. Pearson
SNUSTAD P.D., SIMMONS M.J.- Principi di genetica, Ed. EdiSES.
Genetica in medicina Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard
& Thompson. Edises, 2018 Thompson. Edises, 2018

The course aims to teach the student the organization, expression and transmission of genetic material, both of the human genome and of the prokaryotic genome

Basic knowledge of biology, biochemistry and statistics.

Class lectures with PowerPoint projections and use of the overhead projector for exercises explanation and solution.

Learning control: In-class writing exercises

Learning of human genetics will be verified by a written exam consisting of quizzes a multiple choice on basic topics and an oral part. The oral part can only be accessed with sufficient writing test.
During the oral exam, in addition to questions about the whole program, you will be asked to solve a problem of Mendelian genetics that will focus on the calculation of risk. Learning of prokaryotes and eukaryotes genetics. Will be verified by written test. Test consists of 2 short open-ended questions and 25 multiple-choice questions. Open-ended questions will be theoretical questions on the various arguments of the course.

DNA structure. Organization of DNA in chromosomes. Structure and function of the chromosome.-The Human Genome structure. Organization of genes. Transposable elements. Ripetitive DNA sequences. Gene families.
-Cell division: mitosis and meiosis. -Genotype-phenotype correlation (example: ABO
blood group, sickle cell anemia). Protein translation and genetic code. Correlation between type of mutations and dominant or recessive phenotype at different levels of phenotype investigation. Genetic consequences of meiosis. DNA structure. Organization of DNA in chromosomes. -Principles of Mendelian genetics. Transmission in
families of autosomal recessive, dominant and X linked monofactorial traits; recurrence risks in families. -"Exceptions" to Mendel’s rules. Incomplete penetrance, variable expressivity, genetic heterogeneity. X-chromosome inactivation, mitochondrial inheritance, genomic imprinting -Criteria for classification of chromosomes and methods for their identification. Chromosomal aberrations and their incidence at birth; Reproductive
risks associated with chromosomal aberrations. -Population genetics. Gene and genotypic frequencies in the population and Hardy-Weinberg equilibrium -Evolution of human populations. Evolutionary forces (mutation, selection, genetic drift, migration) that
influence allelic and genotype frequencies. -Transmission of independent and concatenated
characters. Localization of genes on chromosomes based on their transmission in families (linkage analysis). Different methods for gene mapping. -Multi-factorial characters. Population distribution of multifactorial characters; evaluation of the weight of the genetic component in multifactorial disorders; identification of susceptibility genes in multifactorial
diseases.
The genetic material: chemical composition and structure. Replication, transcription and translation of genetic material. DNA organization in prokaryotic and eukaryotic chromosomes. Mutation and DNA repair. Mendel's laws and their applications. Extension of mendelian analysis: multiple alleles and genetic interaction (epistasis, penetrance and expressivity). Genetic recombination. Genetics of microorganisms: bacteria, bacteriophages and yeast. Exchange of genetic material: conjugation, transformation and transduction. Regulation of gene expression in bacteria and bacteriophages.

Knowledge and understanding
To know the structure, replication and transmission of the genetic material. To understand the bases of the Mendelian inheritance and of the interaction among genes. To know the most important mechanisms of transferring of genetic material and regulation of gene expression in prokaryotes.
Applying knowledge and understanding:
At the end of the course the student should be able:
To apply the acquired knowledge to solve questions regarding the Mendelian inheritance, both qualitatively (expected genotypes and phenotypes) and quantitatively (expected frequencies). To distinguish among the different types of inheritance and to predict the phenotypic effects of the interactions between alleles at a single locus and among genes. To describe and compare the different mode of transferring genetic information between bacteria. Understand the relationships between genetic information and the phenotype.
- Know how to evaluate the risk of recurrence of genetic diseases or with genetic components in families.
-Know the molecular basis of genetically based diseases.
-Apply knowledge to the analysis and resolution of problems of formal and molecular genetics.

Making judgements
Ability to formulate hypotheses about genetic transmission and to critically discuss the complex relationships between genotype and phenotype.
Communication skills
Ability to expose the subjects of the course in a clear and comprehensible way and with the use of the appropriate scientific terminology.
Learning skills
Ability to deepen their knowledge of the genetics on several books and on scientific articles in order to follow with a critical attitude the advancement of discipline.