Ateneo - UPO

Structure and evolution of the human genome.
- Cell division: mitosis and meiosis.
-Correlation genotype-phenotype (example: ABO blood group, sickle-cell anemia).
-Principles of Mendelian genetics.
- Exceptions to the laws of Mendel.
- Chromosomal classification criteria and chromosomal aberrations
- Population genetics.
-Transmission of independent and concatenated characters. Linkage analysis.
- Quantitative and semi-quantitative multifactorial traits.
- Methods of molecular genetics
- Analysis of genomic databases

Eredità, Principi e problematiche della genetica
umana, M.R. Cummings, Edizioni EdiSES, II edizione
(2009)
Genetica in medicina Robert L. Nussbaum, Roderick
R. McInnes, Huntington F. Willard Thompson &
Thompson Edises, 2018

To understand the relationships between genetic information and the phenotype. To Know how to evaluate the risk of recurrence of genetic diseases or with genetic components in families. To know the molecular basis of genetically based diseases. Apply knowledge to the analysis and resolution of problems of formal and molecular genetics

Nozioni fondamentali di biochimica, biologia cellulare e statistica.

Lectures with presentations in MS-Power Point format.
Assignment of genetic problems to be solved in class with related discussion

Learning 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.

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.
-Principles of Mendelian genetics. Transmission in
families of autosomal recessive, dominant and Xlinked 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.

At the end of the course, students should be able to:
-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