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.
Last update: Laláková Marcela (07.02.2025)
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.
Last update: Laláková Marcela (07.02.2025)
Literature -
Literature:
Study materials provided by department – MOODLE (presentations, e-learning courses, lectures and other sources)
Jorde LB, Carey JC, Bamshad MJ. Medical Genetics, 6th edition, Elsevier, 2020
I. General – attendance and conduct code in the classes
Attendance at practical classes and workshops is mandatory and students are to be in their seats in time. Each student is allowed one absence from one practical class/workshop. Medical excuse or any other valid official reason is required (delivered within max. 48 h after the missed class – an electronic form to email of instructors).
Behaviour in practical classrooms and laboratories must follow the rules explained in the first class.
II. Knowledge
All students are to sit written tests (paper) at the beginning of each practical/workshop class as specified in the syllabus – together 5 tests. Each test is allocated maximum 10 points as based on its subject content (when all questions are answered correctly). Points from all tests are summed with the maximum achievable 50 points. Minimal passing grade is 35 points. In case of the final score lower than 35 points, the student will have to sit a retake test. There are two retakes (first and second). Each retake will concern the topics of the entire semester and requires 70 % scoring to be passed. Failure in the second retake will result in the credit failure.
In case a serious health or other objective 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.
III. Other
Completed Karyotype task on Moodle.
Credit sessions
If a student fulfills all credit requirements (i.e. minimum 35 points from all tests, completed Karyotype), the credit will be granted in the last practical class of the current summer course.
Upon other circumstances (need to write a retake test, non-completed karyotype), appointments for credit will be scheduled to the particular date as based on agreement between the student and course instructor.
Generally, in case of failure in credit, the next possible chance is after one week!!!!
Examination·
Students may book the final exam while not having biology credit(s), however they would be allowed to sit the exam physically when both winter and summer term credits were obtained only.
When the student cannot attend the booked exam (either due to medical or other serious reason), he/she must provide an immediate excuse and at the latest next day after the date of exam supply an electronic document (medical or governmental) to the secretary of department. Not complying with this rule will cause missing of the date.
Cheating during any form of biology exam (written tests 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”.
Last update: Laláková Marcela (07.02.2025)
Syllabus
Lectures
Lecturer: Doc. RNDr. Věra Králová, Ph.D.
Human chromosomes, epigenetics, chromosomal abnormalities Mendel´s laws, Morgan´s laws, gene linkage – introduction to self-study
Single-gene inheritance Mitochondrial inheritance Polygenic and multifactorial inheritance, heritability
Immunogenetics Pharmacogenetics Basic principles of molecular genetic methods – introduction to e-learning course
Genomics Recombinant DNA technologies, gene manipulations Treatment of genetic diseases, gene therapy
Genetics of cancer
Practical courses
Lecturer: Prof. Dr. Emil Rudolf, Ph.D.
Practical courses
Cytogenetics, cytogenetic diagnostic methods Outline and principles of cytogenetic methodology Microscopic evaluation of human karyotype mount Practical cytogenetic examples
Karyotype Test – progress Cytogenetics and karyotype (lecture and practicals) (10 points) Karyotyping of human stabilized cells – laboratory
Monogenic inheritance (workshop I) Test – lecture Single-gene inheritance (10 points) Pedigree analysis, symbols and rules in select human monogenic traits (physiological and pathological) Examples of mechanisms of inheritance and expression of monogenic traits in man deviating from Mendel´s rules
Basic molecular biology techniques I Isolation of DNA from human cells
Basic molecular biology techniques II e-course Methods part I and II
Molecular biology methods in medical diagnostics (workshop II) Test – progress e-course Methods part I and II (10 points) Processing and analysis of isolated nucleic acids Examples of the diagnostic use of molecular methods
Biological typing in man (workshop III) Practical examples of the use of molecular methods for identification of people
Polygenic and multifactorial genetics (workshop IV) Test – lecture Polygenic and multifactorial inheritance (10 points) Examples of traits and their inheritance
Tumor biology Test – preparatory material for the practical class (10 points) Select phenotypical and histopathological features of tumor cells in vitro and in vivo – permanent mounts Sporadic, familial and hereditary tumors – occurrence, differences, diagnostics
