Describe how to set up a family pedigree describing possible errors in collecting family history (with examples from frequent family illnesses). Construction and use of genealogical trees.
Modes of transmission of diseases: autosomal dominant, autosomal recessive, X-linked recessive and dominant. Consanguinity. De novo mutations. Describe the principles governing monofactorial inheritance: thalassemia, falcemia, daltonism and G6PD deficiency. Allelic and locus heterogeneity. Variable expression. Incomplete penetrance. Characteristics of inheritance linked to mitochondrial DNA. Y-linked inheritance. Diseases caused by dynamic mutations, anticipation.
List the main recessive and dominant autosomal and X-linked mutations: family hypercholesterolemia, thalassemia, sickle cell anemia, cystic fibrosis, albinism; Huntington's disease, dwarfism, hemophilia, Duchenne's muscular dystrophy, G6PD deficiency, describing each mode of transmission (eg. by pedigrees).
Discuss the consequences of some mutations in the genes of development (eg. craniosinostosis).
Discuss the significance of mitochondrial gene mutations, as examples of some mitochondrial DNA-related pathologies evaluating the consequences.
Describe the general principles governing somatic mutations and mosaicism.
Genetic counseling and genetic testing.
Examples of Mendelian disorders in humans: dominant autosomal: Marfan syndrome, Ehlers-Danlos syndromes; autosomal recessive: sickle cell anemia, alpha and beta thalassemia, phenylketonuria, cystic fibrosis; linked to chromosome X: Duchenne/Becker's muscular dystrophy, hemophilia.