Course Unit Page
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Teacher Elena Bacchelli
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Learning modules Elena Bacchelli (Modulo 1)
Elena Bacchelli (Modulo 2)
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Credits 6
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SSD BIO/18
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Teaching Mode Traditional lectures (Modulo 1)
Traditional lectures (Modulo 2)
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Language English
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Campus of Bologna
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Degree Programme Second cycle degree programme (LM) in Statistical Sciences (cod. 9222)
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Course Timetable from Apr 20, 2022 to May 24, 2022
SDGs
This teaching activity contributes to the achievement of the Sustainable Development Goals of the UN 2030 Agenda.

Academic Year 2021/2022
Learning outcomes
By the end of the course the student knows the analysis of the human genome and the molecular basis of genetic disorders. In particular, the student learns the main approaches for the genetic analysis of Mendelian and complex traits (linkage analysis, association), the elements of molecular pathology and epigenetic mechanisms, the main bioinformatics tools for the analysis of the human genome and some common techniques used in the laboratory.
Course contents
Introduction to genetics
The basis of heredity: Mendel's laws; monohybrid crosses (dominance and segregation); dihybrid crosses (independent assortment); Predicting the outcome of genetic crosses
Structure and replication of DNA: DNA double helix
Gene expression; the central dogma: From DNA to RNA, from RNA to protein. Transcription, translation; the genetic code.
The eukaryotic cell cycle, cell division, mitosis and meiosis and the transmission of chromosomes
Chromosome theory of inheritance
Sex determintion and sex-linked inheritance; Dosage compensation in mammals
Genetic analysis of human traits: basic Mendelian pedigree patterns; complications to the basic pedigree patterns; Extensions and modifications of basic mendelian principles
Genetic variability; mutation and polymorphisms; types of genetic variants; point mutations and their consequences; Structural genomic variation; copy number variation; genotype/phenotype relationship
Organization of the human genome: Genome projects and sequencing
Introduction to complex traits: Heritability and Mapping complex traits
Readings/Bibliography
Recommended Book
-Hartwell/Goldberg/Fischer/Hood. "Genetics: From Genes to Genomes". Sixth Edition, McGraw-Hill EducationTeaching methods
Lectures with powerpoint presentations; problem solving and exercises
Assessment methods
Final written exam including multiple choice questions and problem solving.
The final assessment verifies the candidate's skill on the topics discussed during the course.
Teaching tools
The slides and the excercises presented during the lessons will be made available to students through the virtuale website
Office hours
See the website of Elena Bacchelli