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.
Poslední úprava: LALAKOVAM/LFHK.CUNI.CZ (06.02.2026)
Literatura - angličtina
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
Poslední úprava: LALAKOVAM/LFHK.CUNI.CZ (06.02.2026)
Požadavky ke zkoušce - angličtina
Requirements for credit
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 6 tests. Each test is allocated maximum 5 or 10 points based on its subject content (when all questions are answered correctly). Points from all tests are summed with the maximum 40 points achievable. Minimal passing grade is 28 points. In case of a final score lower than 28 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 28 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”.
Poslední úprava: LALAKOVAM/LFHK.CUNI.CZ (06.02.2026)
Sylabus - angličtina
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
Meiosis and genetic recombination Meiosis and gene linkage analysis- interactive workshop Meiosis and polytene chromosomes in microscopic specimens Progress test 1
Cytogenetics, classical cytogenetic diagnostic methods Outline and principles of cytogenetic methodology Sex chromatin in microscopy Progress test 2
Karyotype Karyotyping of human stabilized cells – laboratory
Monogenic inheritance (workshop I) Pedigree analysis, symbols and rules in select human monogenic traits (physiological and pathological) Progress test 3
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) Use of molecular methods in diagnosis of diseases and identification of people (examples) Progress test 4
Polygenic and multifactorial genetics (workshop III) Examples of traits and their inheritance Progress test 5
Tumor biology Mutations Genetics of sporadic, familial and hereditary tumors Progress test 6
Summary of genetics course Questions and Answers
Poslední úprava: LALAKOVAM/LFHK.CUNI.CZ (06.02.2026)
