Introduction to Medical Genetics: current knowledge and future perspectives.
Human chromosomes. The karyotype analysis. Chromosomal abnormalities of number and structure. Chromosomal polymorphisms.
Molecular cytogenetic analysis: FISH (Fluorescent In Situ Hybridation) and array-CGH. Genomic disorders (microdeletion and microduplication diseases) and subtelomeric rearrangements.
Structure and function of genes. Principal types of genetic mutations.
Mendelian hereditary: identify and draw genealogical trees where segregating autosomal dominant and autosomal recessive.
Mendelian hereditary: identify and draw pedigrees where segregating disease linked to chromosome X recessive and dominant.
Atypical mechanisms of inheritance. New mutations; Digenic inheritance; Germline mosaicism; Penetrance; Expressiveness; Late-onset; Mitochondrial inheritance.
Atypical mechanisms of inheritance. Diseases of genomic imprinting defects.
Distribution of genes in populations: The Hardy-Weinberg law; Calculation of gene frequencies: method of direct counting of alleles and indirect method based on the Hardy-Weinberg law; Factors that alter gene frequencies: mutation, selection, genetic drift, gene flow.
The order of genes on chromosomes: gene mapping and genetic markers. Linkage analysis. Linkage disequilibrium. HapMap project.
Multifactorial traits. Quantitative or continuous characters; Inheritance; Semiquantitative characters; Threshold model; Risk of recurrence; Strategies for the identification of genes; Analysis of pairs of brothers; Transmission Disequilibrium Test, TDT; Dissection of complex traits.
Cancers Genetics. Etiology – Proto oncogenes e oncogenes: chronic myeloid leukemia and Burkitt linfonoma; genes oncosuppressor and retinoblastoma model; “mutator” genes. Hereditary cancers: breast and ovarian cancers, colorectal cancers.
Diseases by dynamic mutations.
Technical analysis of genes I. Blood sampling and DNA extraction. Restriction enzymes. Electrophoresis of nucleic acids. Southern blotting. Polymerase chain reaction (PCR). Methods for identification of mutations: restriction analysis, technical ASO, ARMS technique, OLA technique, technique SSCP, DHPLC technique.
Techniques for the analysis of the genes II. Method PTT, sequencing of DNA sequencing Sanger and "next generation sequencing," including the sequencing dell'esoma. Quantitative PCR: Real-Time PCR and MLPA.
Genetic counseling. Definition, Diagnosis, Calculation of the risk theory of probability, Bayes' theorem, empirical risks; Understand the risks, options, communication and support, screening and genetic testing, informed consent, informed choice, Autonomy, Privacy, Family investigations; Screening population; predictive tests, presymptomatic tests.
Prenatal genetic counseling and prenatal diagnosis of genetic disease. Invasive and noninvasive prenatal diagnosis. Prenatal genetic testing performed in: QF-PCR analysis and karyotype.