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Areas and definitions of medical genetics, classification of genetically determined diseases
Hereditary, congenital, rare illness: definition and peculiarities
Useful websites for the study of genetic diseases: OMIM, Genetics Home Reference, Orphanet, rare ISS site site
Autosomal dominant, autosomal recessive Mendelian inheritance linked to dominant and recessive X-linked (X linked); General characteristics and examples of use of the genealogical tree in the recognition of different forms.
Atypical inheritance: expanding diseases, imprinting diseases
Complications factors of Mendelian diseases: novo mutations, germinal and somatic mosaicism, incomplete penetration, variable expression, genetic allelic heterogeneity and locus
Gene mutations: typology and classification; Different types and different techniques of molecular analysis
Genetic tests: definition, typologies, peculiarities. The "pathway of the genetic test"
Application of molecular biology techniques for the study of Mendelian diseases: PCR and its variants (multiplex, mutagenesis, TP-PCR), reverse dot blot (RDB), Southern blotting and its variants, automatic sequencing, MLPA, Methylation.
Examples of Molecular Diagnosis of Autosomal Dominant Growth Diseases: Huntington's Corea, Steinert Myotonic Dystrophy
Examples of molecular diagnosis of autosomal recessive diseases: cystic fibrosis, hemoglobinopathies (thalassemia alpha, beta, drepanocytes)
Examples of molecular diagnosis of X linked transmission expansion disorders: fragile X syndrome (FRAXA)
Examples of Molecular Diagnosis of Imprinting Diseases: Prader Willi Syndrome, Angelman Syndrome
Pre and Post-Natal Diagnosis of Mendelian Diseases
Genetic counseling items.