15950 - Biology and Genetics (B)

Course contents

Genetic variability

Interindividual variability of the human genome.

Classification of mutations: cause, cell type, biological effect, extent.

Mechanisms and effects of gene mutations on the gene product depending on their location on the gene.

Mechanisms and effects of structural chromosome mutations (intrachromosomal and interchromosomal) on the carrier and on the gametes produced.

Mechanisms and effects of chromosomal number mutations.

Laws of inheritance

Exceptions to AB0 inheritance (Bombay phenotype).

Rh inheritance. Maternal-fetal incompatibility due to Rh blood group.

Genetic determination of sex. Structure and function of the X and Y chromosomes.

Sex-linked inheritance (e.g., hemophilia). Dose compensation and molecular biology of X chromosome inactivation.

Association and linkage. Gene association as an exception to Mendel's second law.

Biomedical applications of mitochondrial DNA analysis.

Multifactorial inheritance

Methods for studying complex traits (e.g., twins).

Polygenic theory of multifactorial quantitative traits (e.g., height, blood pressure) and discontinuous traits (e.g., cleft lip and palate).

Population genetics

Concept of Mendelian species and population. Gene pool. Hardy-Weinberg law and its applications in medicine.

Forces modifying the Hardy-Weinberg equilibrium: mutation, migration, genetic drift, selection, and assortative mating.

 

 

Readings/Bibliography

Text in preparation.

Assessment methods

Oral exam.

Teaching tools

http://apollo11.isto.unibo.it/appunti.htm

Office hours

See the website of Pierluigi Strippoli