Programme

The principal aim of the course in human genetics has the objective to provide students with cytogenetic and modern human genetics knowledges. Modern human genetics is based on the new researches on the mechanisms involved in inherited genes, both for physiological and pathological processes.

Chromatin structural organization. Chromatin epigenetic changes. Centromeres. Telomeres. Structural chromosome aberrations. Aneuploidy. Meiosis and development. Single-Gene Inheritance. Multifactorial Traits. Genetics of Behavior. Sex genetics.Gene Expression and Epigenetics. Gene Mutation. DNA repair syndromes. Uniparental disomy. Clinical genetics and cytogenetics. Costitutional chromosomal rearrangements .chromosomal rearrangements and mutations acquired. Genetic Technology.

hands-on classes:
cellula culture of human cells. Fixation and metaphase preparation
Fluorescent in situ hybridization (FISH) to label chromosome ends (telomeres) responsible of genomic stability
Indirect immunofluorescence to label kinetochore proteins responsible of correct chromosome segregation and thus genomic stability

Core Documentation

GENETICA UMANA, Ricky Lewis, PICCIN.
Biologia molecolare della cellula, Bruce Alberts, Zanichelli.

OFFICE HOURS AT THE END OF THE CLASS AND BY PRIOR APPOINTMENT

Type of delivery of the course

frontal classes and hands-on classes, carried out in the laboratory with the use of fluorescent microscopes and dedicated software for the image analysis of the end-points of interest

Type of evaluation

the oral test will be based on a discussion of several topics related to the programme e some examples of inheritance will be proposed to the student and discussed with the professor with the aim of better understand the skills and competence acquired by students