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Course Sheet Academic Year of enrolment:
Professor and Collaborators:
Hours of classroom activity:
Objectives
Contents DNA organization within cell compartments; genetic information transmission through cell division; meiosis, mitosis and cell cycle control; Mendelian monogenic inheritance, genotype/phenotype correlation, sex chromosome linked genes. Mendel law exceptions, gene linkage, multifactorial inheritance. Gene mutations, recombination and transposon activities. Epigenetics. Human normal karyotype and its aberrations.
Extended Syllabus 1. Mitosis, meiosis and cell cycle.2. nucleic acid structures; genetic transmission through cell division; DNA duplication; DNA repair processes.3. DNA organization within cell compartments; mitochondrial DNA structure and organization. Eukaryote gene structure and functional organization; eukaryote/prokaryote DNA structure variations. Genetic code structure and its decode. Regulation in gene expression and messenger RNA splicing.4. Gene mutations, recombination and transposon activities.5. Mendelian monogenic inheritance, genotype/phenotype correlation, sex chromosome linked genes. Mendel law exceptions, gene linkage, multifactorial inheritance.6. Chromatin structure and function, gene families and genetic polymorphisms.7. Standard human karyotype. Sex chromosomes and determination of sex features. Genomic and chromosomal mutations. Chromosomal fragile sites. Chromosome banding and molecular cytogenetics.8. Hemoglobin structures and their alterations.9. Imprinting, its regulation and alterations.10. Main molecular approaches for DNA analysis and its manipulation including genetic engineering.
Recommended Bibliography G. Palka,Genetica Umana, Libreria Universitaria Ed., 2017 Chieti, Italy
Teaching Methods Conventional lectures; optional practical activities at lab bench.
Evaluation methods Verification of learning:
Contacts/More Information 70-80% of students pass exam with a mark >25/30. Students can meet the professor on Tuesday, 4:00-5:00 pm, Medical Genetics section, Nuovo Polo Didattico, level -1, Building C. Email: g.calabrese@dsb.unich.it