15950 - Biology and Genetics (A)

Learning outcomes

Biology : at the end of the course the student is able to relate the main functions of the cell with its structure. The student knows the cellular processes and has expertise on aspects of regulation: gene regulation and the main mechanisms that govern the differentiation and cellular specialization, regulation of motility, the concepts of communication between cells, cell cycle and apoptosisregulation. Also in the study of human reproduction he knows the regulatory aspects. The student is able to apply the concepts learned to deal with biomedical problems related to regulatory mechanisms and their possible alteration.
Genetics: at the end of the course, the student has acquired: the knowledge of the fundamental concepts regarding the genetic information and the mechanisms related to its conservation, expression and transmission; knowledge of the concept, the structure and the function of gene and genome; knowledge of the phenomena associated with the different modalities of hereditary characters transmission, and genetic variability: polymorphisms, mutations and population genetics; a methodological approach aware of the use of advanced technologies in molecular genetics; the ability to apply the knowledge gained to biomedical problems.

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.

Teaching methods

Frontal lessons, video and discussion of some topics.

Assessment methods

Oral examination.

Teaching tools

- Video projection of slides with images and diagrams related to the topics discussed.
- Possible consultation of educational web sites.
- Selection of scientific articles for in-depth update.

Teaching materials available on Virtuale platform.

Links to further information

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

Office hours

See the website of Lorenza Vitale