65644 - Human Genetics

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

Structure and replication of DNA

Cell division and the transmission of chromosomes

The basis of heredity: Mendel's laws, independent assortment and linkage. Genetic analysis of human traits, basic Mendelian pedigree patterns, complications to the basic pedigree patterns.

Organization of the human genome, DNA variation, mutations and polymorphisms, genotype/phenotype relationship. Structural genomic variation. Copy number variation.

Physical and genetic mapping of the human genome. Genome projects and sequencing

Allele frequencies in populations. Hardy Weinberg equilibrium. Population genetics

Linkage analysis of human traits, the Lod Score method

Identification and characterization of human disease genes

Analysis of multifactorial diseases. Association studies and the HapMap project.

Next Generation Sequencing

Readings/Bibliography

Recommended Book

- Strachan T., J. Goodship, P. Chinnery. Genetics and Genomics in Medicine (Garland Science)

Teaching methods

Slides and exercises

Assessment methods

A two-hour written test consisting of three sections: a) multiple-choice questions b) open questions c) exercises.

Teaching tools

The slides and the excercises presented during the lessons will be made available to students through the AMS Campus website

Office hours

See the website of Elena Bacchelli