The goal of the course is to describe the genetic mechanisms underlying the transmission of Mendelian traits to identify the inheritance of diseases in humans, evaluating the reproductive risk through the study of family trees. Other objectives concern the description of the mechanisms involved in genetic recombination and their application in the building of genetic maps, the definition of the hereditary material at the molecular and chromosomal level in order to understand the concepts of normal and pathological genetic variability, and finally the application of the principles of basic population genetics applied to the identification of the proportion of individuals with specific normal or pathological genotypes in the population. These skills are preliminary to understanding the contents of more advanced courses, specific to the field.
Expected learning outcomes
At the end of the course the student will have to demonstrate that he has understood the principles of Mendelian inheritance and apply them for the calculation of reproductive risk, be able to build a family tree by distinguishing the different types of heredity, define the classes of gene and chromosomal mutations, be able to build a genetic map and calculate the distance between genes, and be able to calculate the frequency of an allelic variant or of a genotype correlated to disease in a population, evaluating the presence of healthy carriers. The student should also have understood the main strategies used for the formal demonstration of the main genetic theories.
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
Prerequisites for admission
No knowledge are required
Teaching methods used by the lecturers include frontal lessons, written exercises to learn genetic problem solving, practical laboratory activities, a seminar at the end of course. Teaching material will be uploaded on the Ariel website and includes pdf version of the teachers' presentations, scientific articles relevant to the covered topics, exercises, protocols for practical laboratory, videos. Attendance is compulsory.
Learning will be assessed for all the student by means an oral examination. Furthermore, all the students can take a written examination midway through the course. The final mark will be the result of the average of the written and oral examinations, where the oral examination concerns the second part of the program, with both positive evaluations. Differently the student can take only an oral examination on the whole program of the course. The in itinere written test concerns problems on Mendelian Genetics applied to plant, animal models and humans and open questions on topics covered in the first half of the course. The written examination lasts an hour. The evaluation parameters include the ability to solve genetic problems and specific knowledge of the subject, showing the ability to critically discuss each topic. The mark of the written test remains valid until the last call of September. The mark is given on a 30 points basis (grades out of thirty), the minimum passing mark is (18/30). Examination results is published in the Notice Board of the Ariel website, with the possibility to discuss the score of the test with the teacher. The oral examination concerns the discussion of theoretical topics and the ability to solve genetic problems only on the second part of the program for students who obtained a positive mark in the written test. The mark is given on a 30 points basis (grades out of thirty), the minimum passing mark is 18/30. For the students who don't obtain a positive evaluation in the written test, the oral examination concerns all the topics of the course. The evaluation parameters include the ability to solve genetic problems and specific knowledge of the subject, showing the ability to critically discuss each topic. The final mark is given on a 30 points basis (grades out of thirty), the minimum passing mark is 18/30. The final mark is given on a 30 points basis (grades out of thirty) and it is the result of the average of the marks of both the written and oral examination, if the written test has been taken with a positive evaluation. Otherwise the mark corresponds to the evaluation obtained after the oral examination on the entire course (the minimum passing mark is 18/30). Attendance is required to be allowed to take the exam.