46270 - Human and Molecular Genetics

Learning outcomes

Analysis of the human genome and molecular basis of genetic disorders.

Course contents

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.
Allele frequencies in populations. Hardy Weinberg equilibrium
Organization of the human genome, DNA variation, mutations and polymorphisms, genotype/phenotype relationship.
Genomic imprinting
Structural genomic variation. Copy number variation.
Physical and genetic mapping of the human genome. Genome projects and sequencing
Linkage analysis of human traits, the Lod Score method
Identification and characterization of human disease genes
Molecular pathology. Molecular genetic testing.
Analysis of multifactorial diseases. Association studies and the HapMap project

LABORATORY PRACTICALS
Genotyping  of RFLP by PCR–RE
Genomic DNA extraction from buccal swabs. Agarose gel electrophoresis. PCR and digestion with restriction enzymes. Allele frequencies calculation and testing for HWE. Testing for association with a phenotypic trait.

Readings/Bibliography

Recommended Book
Strachan T., Read A.P.. Human Molecular Genetics (4th edition)

Other useful books:
- Ricki Lewis. Genetica Umana. Concetti e applicazioni (PICCIN)
-Michael R . Cummings. Eredità. Principi e problematiche della Genetica Umana (EdiSES)
- Bruce R. Korf. Genetica e genomica umana (Springer)
- Giovanni Neri Maurizio Genuardi. Genetica Umana e Medica

Teaching methods

Assessment methods

Teaching tools

Slide presentations and exercises will be available through the AMS Campus - AlmaDL web site (http://campus.unibo.it/)
Access is restricted to University of Bologna students

Office hours

See the website of Elena Maestrini