The course aims to provide the students with basic knowledge of Mendelian genetics required to understand principles and contents of the most advanced courses in human molecular genetics and medical biotechnology. The student will have to achieve the comprehension of mechanisms at the basis of hereditary traits transmission and to apply the principles, besides to demonstrate a thorough knowledge on molecules and chromosomal structures that constitute the genetic material.
Expected learning outcomes
The student will be able to demonstrate to have understood the contents reported in the program to achieve the objectives above described. The written examination is aimed at evaluating the ability of the student to solving the genetic problems that require the correct application of Mendel's laws to identify a specific modality of inheritance in plant or animal models in in humans, also evaluating the risk of transmission of a given normal or pathological trait. During the oral examination the student will demonstrate to have understand principles and theoretical basis of heredity and to be able to evaluate the effects of allele frequencies on genotype frequencies and on incidence of normal and pathological traits in populations. The student will have to be able to classify DNA mutations and chromosomal variations and to define their effects. The student will have also to describe the practical lab activity and the seminar attended during the course.
Chromosomal basis of Inheritance: mitosis and meiosis, life cycles, sexual reproduction. Principles of Mendelian Inheritance and Statistical elaboration of the genetic data. Chromosomal Theory of Inheritance. Normal and pathological hereditary traits in Humans (blood groups, pedigree analysis). Gene functions and gene interactions, Gene complementation, Epistasis. Quantitative Traits. Genetic Linkage, Genetic recombination, Genetic Mapping. Genetics of Bacteria. Transcription in prokaryotes and eukaryotes. Translation and genetic code. DNA mutations and effects on proteins, DNA repair. Human Karyotype, variation in Chromosomal structure and number and phenotype consequences. Gene expression regulation in prokaryotes. Genetic structure of population and Effects of Evolutionary Forces. Natural selection and frequency of pathological alleles in populations. Basic principles and methodologies generating Recombinant DNA.
Theoretical and Practical laboratory activities and Seminars: Frontal activities to apply analytical approaches to solving genetics problems helping a better comprehension of the concepts taught during the frontal lessons. Practical laboratory activities aimed at providing the student basic competences on a specific diagnostic methodology applied in human genetics Seminar on applications of genetics in diagnostic or in forensic field