Karyotyp - poruchy počtu a struktury autozomů. Sexuální reprodukce - meióza, inaktivace X chromosomu, změny
pohlavních chromosomů. Genové manipulace - rekombinace DNA, vektory, PCR, určení sekvence DNA, klonování
DNA. DNA diagnostika, produkce léčiv, genová terapie. Mendlova pravidla, Morganovy zákony. Klinická genetika,
geneticky podmíněné metabolické poruchy. Metody lidské genetiky - studium rodokmenů, studium dvojčat,
cytogenetika. DNA diagnostika. Imunologie - genová kontrola imunity, monoklonální protilátky. Transplantační
imunita, imunologická tolerance. Genetika populací - Hardy-Weinbergův zákon, jeho aplikace a důsledky.
Poslední úprava: Marcela Laláková (09.02.2022)
Human karyotype. Structural and numerical aberration of autosomes. Sexual reproduction, meiosis, abnormalities of gonosomes. X-linked genes, X chromosome inactivation. Genetic manipulations - recombination of DNA, PCR, DNA sequencing. DNA diagnostics. Production of recombinant molecules. Gene therapy. Genetics of multicellular organisms, Mendel´s law, Morgan?s law. Clinical genetics - inborn errors of metabolism, prenatal diagnosis, genetic counselling. Human genetics - pedigree analysis, siblings, genomics. Gene control of immunity, antibodies, monoclonal antibodies. Immunologic tolerance, transplantation immunity. Population genetics - Hardy-Weinberg law - its application and consequences. Evolution of species, evolution of Homo sapiens.
Požadavky ke zkoušce - angličtina
Poslední úprava: Marcela Laláková (09.02.2022)
!Important!
Due to the unpredictable development of the pandemy and associated hygienic measures imposed, the student is required to follow the information at Moodle/Practical classes Biology I/Announcements. Should an isolation or quarantine of any individual student be required, he/she should immediately report it to the head of the department and continue in his/her education on-line during required period as per agreement with course instructor.
Conditions for credit:
All students are to sit three progress tests (Moodle) as specified in the syllabus. Minimal scoring grade in each test is 70 %. If it is achieved in all of them no further final test will be necessary. However, if a student does not score the required 70 % in one or more progress tests, he/she will have to sit a retake test. This first retake test will cover the topics of the progress test/s where the given student did not reach the required passing level. The second retake test will concern the topics of the entire semester. Failure in the second retake will result in the credit failure.
In case a serious health problem (officially documented) prevents the student from sitting any all the planned progress tests in the set date/time and an alternative date/time and test will be produced based on the agreement with the course instructor.
Required attendance
Completed protocols including drawings (in case of any protocol damage, loss or inadequate content, the student will have to present new one).
Credit appointments (credit record) are limited to each week on Thursdays from 2 to 3pm only with exception of summer holidays (July and August).
Each student has three attempts. Failed credit test may be repeated two times(all written) at agreed dates. Generally, in case of failure in credit, the next possible chance is after one week!!!!
Cheating during any form of biology exam (credit test and oral examination) including preparatory period is not tolerated! Use of any electronic devices (cell phones, tablets, notebooks, phablets etc.), unauthorized materials or communication with other students in these instances is strictly prohibited! After selecting final exam questions it is not allowed to leave the room and when necessary an escort will be provided. In case of failure to comply with these rules, student will be classified “failed”.
Genomics Recombinant DNA technologies, gene manipulations Prevention and treatment of genetic diseases
Introduction into the genetics of tumors
Practical courses
Lecturer: Prof. Dr. Emil Rudolf, Ph.D.
Practical courses
Meiosis and gene linkage Meiosis in gene linkage analysis (workshop I) Meiosis in cells of locust
Cytogenetics, cytogenetic diagnostic methods Outline and principles of cytogenetic methodology Karyotype of human cells Sex chromatin in leukocyte cells
Karyotype Preparation of karyotype from human cells cultivated in vitro
Monogenic inheritance (workshop II) Pedigree analysis, symbols and rules in select human monogenic traits (physiological and pathological) Examples of mechanisms of inheritance and expression of monogenic traits deviating from Mendel´s rules
Basic molecular biology techniques I Isolation of DNA from human cells (+ e-learning)Testing genotoxicity (mutagenity) and carcinogenity First progress test (topics 1-4)
Molecular biology methods in medical diagnostics (workshop III) Processing and analysis of isolated nucleic acids Examples of diagnostic use of molecular methods
Biological typing in man (workshop IV) Use of molecular methods for identification of people – interactive workshop
Polygenic and multifactorial inheritance (workshop V) Examples of traits ad their inheritance – interactive workshop Second progress test (topics 5-7)
Tumor biology Select features of malignant cells Sporadic, familial and hereditary tumors – occurrence, differences
Population genetics (workshop VI) Introductory concepts Third progress test (topics 5-7) Credit
Literatura -
Poslední úprava: Marcela Laláková (09.02.2022)
Literature:
Study materials provided by department – MOODLE (presentations, e-learning courses, lectures and other sources)
Jorde, L.B. et al.: Medical genetics, 6th ed., 2020
