Teacher
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SGURA ANTONELLA
(syllabus)
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
(reference books)
GENETICA UMANA, Ricky Lewis, PICCIN. Biologia molecolare della cellula, Bruce Alberts, Zanichelli.
OFFICE HOURS AT THE END OF THE CLASS AND BY PRIOR APPOINTMENT
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