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Medical Biology - mod. MEDICAL GENETICS
FRANCA SACCUCCI

Seat Medicina e Chirurgia
A.A. 2013-2014
Credits 3
Hours 30
Period Corso annuale
Language ENG
U-gov code MU02-09-11 32609

Prerequisites

scholastic knowledge of biology, physics and chemistry

Development of the course
the course aims to contribute to the formation of a doctor who is familiar with the concepts of continuity and variability of genetic information in living organisms, the mode of transmission of hereditary traits and mechanisms that can lead to phenotypic variants in humans, genetic analysis methodology and its usefulness in medical practice.

Learning outcomes

at the end of the course the student must know (1) the laws of genetic transmission of hereditary characters and their applications in the study of diseases in humans, (2) the normal and pathological human karyotype, (3) the principles and technologies of genetic engineering as a tool for the isolation and study of genes, (4) the mechanism of sex determination and the events underlying the sexual differentiation, (5) the difference between mutations in germ cells and somatic cells in light of possible consequences.

Program

the heredity of characters: Mendel's laws. Extension of Mendelian inheritance agreement. Chromosome theory of heredity. Concatenated genes. Recombination among genes. The genetic significance of meiosis. Multiple alleles. Relationships of dominance and recessivity. Interaction between genes and modified Mendelian ratios. Epistasis. Polygenic traits and pleiotropy. Penetrance and expressivity. Environment and gene expression. The nature of quantitative characters. Heritability. Recombination between genes and the role of the exchange between chromosomes. Localization of genes on chromosomes: mapping of genes on human chromosomes. The nature of genes and human genome. Structural and functional characteristics of eukaryotic chromosomes. Methods and applications of genetic engineering ,  structural and functional analysis of genomes (genomics, proteomics, etc.); applied genetics and genetic technologies. Mechanisms of regulation of expression in eukaryotes. Importance of imprinting. Definition of mutation. Causes of mutation. Identification of potential mutagens. DNA repair mechanisms. Gene mutations. Chromosomal aberrations. Genomic mutations. Population and evolutionary genetics. Gene frequencies and genotype.

Development of the examination
oral examination

Recommended reading
ask the teacher

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