CODE 72711 ACADEMIC YEAR 2024/2025 CREDITS 1 cfu anno 1 INFERMIERISTICA PEDIATRICA 9277 (L/SNT1) - GENOVA 1 cfu anno 1 OSTETRICIA 9278 (L/SNT1) - GENOVA 1 cfu anno 1 INFERMIERISTICA 9276 (L/SNT1) - GE SAN MARTINO 1 cfu anno 1 INFERMIERISTICA 9276 (L/SNT1) - GE GALLIERA 1 cfu anno 1 INFERMIERISTICA 9276 (L/SNT1) - GE ASL 3 1 cfu anno 1 INFERMIERISTICA 9276 (L/SNT1) - CHIAVARI 1 cfu anno 1 INFERMIERISTICA 9276 (L/SNT1) - IMPERIA 1 cfu anno 1 INFERMIERISTICA 9276 (L/SNT1) - SAVONA 1 cfu anno 1 INFERMIERISTICA 9276 (L/SNT1) - LA SPEZIA SCIENTIFIC DISCIPLINARY SECTOR BIO/13 LANGUAGE Italian TEACHING LOCATION GENOVA GE SAN MARTINO GE GALLIERA GE ASL 3 CHIAVARI IMPERIA SAVONA LA SPEZIA SEMESTER 1° Semester MODULES Questo insegnamento è un modulo di: PHYSICS, BIOLOGY, GENETICS AND STATISTICS TEACHING MATERIALS AULAWEB OVERVIEW The course will introduce students to the fundamental aspects that rule genetic inheritance, both in the case of mitotic and meiotic cell division. The Mendelian laws and analysis will be examined, with particular attention to their biological meanings and exceptions. Genetic inheritance related to characters located into sexual chromosomes, or following recombination or mutational events shall also be considered. AIMS AND CONTENT AIMS AND LEARNING OUTCOMES AIMS The course aims to help students comprehend and assimilate the fundamental laws of genetic inheritance. At the end of the course, students must be able to critically evaluate the essential mechanisms of genetic organization in cells, their advantages and pitfalls, with particular attention to the biological consequences that any alteration to the genetic material may cause. LEARNING OUTCOMES (DETAILED) At the end of the course students must know the differences among mitotic and meiotic division processes; they must remember and comprehend the biological significance of the Mendelian laws, as well as of their exceptions. They will be required to apply the acquired knowledge for the solution of simple genetic inheritance problems, as well as of genetic recombinations. Students are expected to be able to critically assess the biological effects due to different types of mutations occurring in a given genome and to correlate those effects with the onset of a pathological status. TEACHING METHODS Class will be managed as frontal lectures with Power Point presentations; during classes, students will be engaged in active discussion, via examples and specific exercises. If necessary, lessons may be provided on-line, through specific platforms and pre-arrangements made between the teacher, the students and the different Schools in the region. Students can take advantage of online material (lectures power point notes) available on the AulaWeb website; the teacher can be reached via email to arrange specific one-to-one meeting for further assistance/explanation as needed. SYLLABUS/CONTENT Cell mitosis (prophase, metaphase, anaphase and telophase); sister chromatids; relevance of the cytoskeleton and of centrioles. Meiotic divisions (division I and II): biological significance of the reduction division step; role of tetrads and of crossing over; male and female gametogenesis. Alleles, genotype and phenotype. Mendelian laws (I, II and III), genetic inheritance linked to sex chromosomes. Extension of the Mendelian analysis: allele interactions, gene interactions, epistasis. Gene linking; recombination frequency and linkage maps; Mutations (insertions, deletions) and their biological effects; physical and chemical mutagens (radiations, base analogues; base modifications; intercalating chemicals) or functional events (expansions). DNA repair mechanisms (BER, NER, mismatch repair). RECOMMENDED READING/BIBLIOGRAPHY Power point notes of class lectures are available for students to be downloaded from AulaWeb (https://sanitarie.aulaweb.unige.it/course/search.php?search=biologia). Files are strictly for personal use only; files must not be shared on social media, posted on any internet website or put on any sharing platform; files must not be printed out for sale or photocopied. Other basic biology and genetics textbooks can be also used, providing they are intended for University Master Degree courses, among which the ones indicated below: D. Sadava et al.; Biologia: 1 La cellula. Zanichelli Ed. D. Sadava et al.; Biologia: 2 L’ereditarietà ed il genoma. Zanichelli Ed. E.P. Solomon et al., Elementi di Biologia. EdiSes Ed. Alberts et al. “L’essenziale di biologia molecolare della cellula”, Zanichelli Ed. TEACHERS AND EXAM BOARD SVEVA BOLLINI Ricevimento: Prof. Sveva Bollini office hours for students are normally set by previous appointment requested by email. The office address is: Biology Section, Dept. Experimental Medicine; entrance: Via Pastore 3 or C.so Europa 30, second floor or Torre C3, c/o CBA, Cellular Oncology Lab, L. go R. Benzi 10, 16132 Genova. The lecturer's e-mail address and phone number are the following: sveva.bollini@unige.it; 0105558394. If necessary appointments may also take place on-line, depending on previous agreements between students and lecturer. ROBERTA TASSO Ricevimento: Prof. Roberta Tasso: The office address is: Biology Section, Dept. Experimental Medicine; entrance: Via Pastore 3 or C.so Europa 30, second floor. The teacher's e-mail address is the following: roberta.tasso@unige.it. Alternatively, the teacher can be reached at the following phone number: 0105558394. If necessary, appointments may also take place on-line, depending on previous agreements between the students and the teacher. PAOLO GIANNONI Ricevimento: Office hours for students are normally set on Tuesdays from 09:00 to 11:00. The office address is: Biology Section, Dept. Experimental medicine, Via Pastore 3 (C.so Europa 30), second floor. E-mail appointments are strongly encouraged. The teacher's e mail address is the following: paolo.giannoni@unige.it. Alternatively the teacher can be reached at the following phone number: 01035338201. On-line remote interviews can also be agreed, upon specific request. LORENZA PASTORINO PAOLA GHIORZO Ricevimento: Make an appointment by e-mail paola.ghiorzo@unige.it, or telephone 0105557255. Address: DiMI; Viale Benedetto XV, 6. Secondo floor , room 206 LESSONS LESSONS START According to the formal communication provided by the competent office of each Faculty/School Class schedule The timetable for this course is available here: Portale EasyAcademy EXAMS EXAM DESCRIPTION The exam is a written text –either to be taken on-line or in presence- during which students are requested to answer 10 questions relating each of the integrated course teaching. Questions will span through all main items/topics presented during the course. Different types of questions will be used, such as multiple choices, correlation questions and graphical questions (mainly referring to pictograms/schemes already presented during classes). The test will be timed, allowing 10 minutes for each set of 10 questions (this applies both for on-line and in presence test sessions). ASSESSMENT METHODS The exam aims to verify the students’ comprehension of genetic characters inheritance, as well as that of the mechanisms that drive it; the posed questions will also assess the students’ knowledge of the Mendelian laws and of their exceptions, as well the students’ ability to solve simple problems relating genotypic/phenotypic organization and/or recombinative events in living organisms The use of correlation questions will allow to evaluate if students correctly memorize the meaning of specific terms and if they are able to link those terms/statements to specific cellular functions/activities; the students’ knowledge of the molecular mechanisms that take care of genetic material in the cell, as well as the students’ ability to evaluate the biological effect downstream of mutagenic events will be evaluated by the use of multiple choice questions. Large scale correlations and/or morphological features will be examined through the students’ answers to graphical questions. To verify the students’ acquired ability to apply the practical laws of genome mapping, simple genetic problems will be posed: their correct solution –easily obtainable through simple calculations, on the basis of the examples explained during classes- will be among those presented by multiple choice questions. FURTHER INFORMATION Registration for the exams, is strictly limited to the on-line registration system. No students will be allowed to take the exam if not enrolled or if enrolled by any other means. If students experience troubles/inconveniences while enrolling, they are strongly encouraged to contact the on-line student service IN ADVANCE to the enrolment deadline. Topics covered during lessons are summarized by the power-point presentations available on the AulaWeb page. Additional material can be presented at the end of the front lesson and made available through AulaWeb (https://www.aulaweb.unige.it). Teachers are available for further explanation and clarification during one-to-one meetings, if previously arranged by e-mail or phone.