Ateneo - UPO

Phenotype and heredity.The genome. Normal karyotype. Mitosis and Meiosis. Pathological Karyotype. Monogenic traits, mutations From genotype to phenotype Genetics of Blood groups Dominant and recessive traits Inheritance models Examples of monogenic diseases Genetics of Complex diseases Examples of genetics factors involved in complex disease susceptibility

Clementi " Elementi di Genetica Medica" EDISES

Students should be able to know causes and risks of the most common chromosomal abnormalities. Students should be able to recognise inheritance models of monogenic traits and to estimate the relative recurrence risk Students should be able to estimate factors which increase the recurrence risk of genetic complex diseases - The use of genetic tests and their limits

Basic knowledge of cell biology, DNA and the synthesis of macromolecules.

Frontal lessons Training activities

Students with disabilities, learning disabilities or special education needs, once they have contacted the University Staff, can refer to the tutor in charge of the course to define the examination modalities, concerning academic aspects.

The exam will consist of a panel of 16 multiple choice type questions.

Genetic traits Phenotype Monogenic and multifactorial traitsGenome and gene Nuclear and mitochondrial genome Chromosomes, Diploid and Haploid cells Mitosis and Meiosis Female and male Gametogenesis Normal Karyotype Chromosomal Abnormalities 13-18-21- Trisomies Microdeletion syndromes Chromosomal analysis Monogenic diseases and mutations Blood Groups as monogenic traits Dominant and recessive traits Autosomal, X linked (dominat and recessive) inheritance models Multifactorial traits and few examples of complex diseases

Students should be able to distinguish between monogenic and complex characters and to know the criteria for estimating the risk of recurrence in monogenic and multifactorial diseases The student should be able to Know who presents the indication for genetic analysis and know the limits of each of the main genetic tests