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Ciccacci Cinzia
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syllabus)
MEDICAL GENETICS
Basic Genetics: Definitions of Key Terms: gene, locus, allele, genotype, phenotype, homozygous,
heterozygous, haploid, diploid, dominance, recessivity, codominance, mutation, polymorphism.
Principles of Genetic Transmission: Mendel's Genetic Hypothesis, The Monohybrid and Dihybrid
Crosses, Segregation in Human Pedigrees, Blood groups Genetics
Monogenic Inheritance Models: Autosomal inheritance, Autosomal recessive inheritance, X-linked
inheritance
Genetic Risk calculation and pedigrees analyses.
Population Genetics: Hardy-Weinberg equilibrium and theoretical implications for understanding
the mechanisms of biological evolution.
Chromosomes: Structure and Analysis, Chromosomes Pathologies.
X-chromosome inactivation
9Mitochondrial inheritance: mitochondrial DNA, pattern of inheritance
Multifactorial Inheritance and Common Diseases: polimorphisms, susceptibility genes, gene
environment interaction, association studies.
(
reference books)
The recommended textbooks should be considered as reference teaching material. However
students may choose the text(s) they prefer or deem most suitable for their learning needs.
Additional material will be provided by the lecturer.
“Molecular Biology of the Cell”, Bruce Alberts et al., VII ed., WW Norton & Co.
“Essential Cell Biology”, Bruce Alberts et al. V ed., WW Norton & Co.
“Medical Genetics”, Lynn Jorde, John Carey, Michael Bamshad. Edited by Elsevier
