Learning outcomes of the course unit
The course is thought as an introduction to genetics starting from the mendelian theory of inheritance to molecular genetics. The purpose of the course is to gain understanding of the principles of heredity, the relationships between the genes and normal or disease traits and the current advances in genetics applied to humans.
Course contents summary
Mitotis, meiosis. Principles of mendelian inheritance (Mendel¿s laws), physical basis of mendelian inheritance, expression and interaction of genes, crossing over and linkage, mapping, biochemical nature of genetic material, replication and repair of DNA, the genetic code, the ¿central dogma¿ of molecular genetics, mutation. Mitochondrial heredity. Polymorphisms, multiple alleles (ABO and MHC systems). Mechanisms of genetic transmission in humans. Gene structure and function. Mechanisms of gene regulation in prokaryotes (the operon model) and eukaryotes. Human cytogenetics and chromosomal abnormalities. Polygenic inheritance. Principles of population genetics. Principles of genetic manipulation and recent developments in molecular genetics diagnosis of diseases.
Principles of Human genetics
DNA structure and function, DNA replication, transcription, translation. The Genetic Code, Gene structure, Chromosome structure. Mendelian genetics: Principle of Segregation, Priciple of Independent Assortment, Chromosomal Theory of Inheritance, Multiple alleles, Dominance relations, Polymorphisms (ABO, MHC). Introduction to Pedigree charts, segregation analysis in families, Autosomal dominant & recessive inheritance,X-linked dominant & recessive inheritance, Mitochondrial inheritance. X inactivation. Gene Expression in prokaryotes (Lac operon) and eukaryotes. Chromosomes and Karyotypes, Variations in Chromosome number and structure, Sex chromosome aneuploidy, Structural defects in chromosome Polygenic traits and inheritance, Multifactorial Traits, Heritability. Principles of recombinant DNA techniques: Restriction enzymes, RFLP's, Polymerase Chain Reaction, Southern blotting and DNA fingerprinting, DNA sequencing.
Russell PJ, Wolfe SL, Hertz PE, Starr C, McMillan B. Elementi di GENETICA. EdiSES
Novelli G. Giardina E. Genetica medica pratica, Aracne Ed.
Aracne editrice, Roma
lesson, tutorials ppt
Assessment methods and criteria
quiz multiple choice, oral