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.
Entry requirements: prerequisites: completed Biology I, Anatomy and Histology
Outcomes (subject Biology II):
1. student acquires a comprehensive overview of the current state of medical genetics (basic Mendelian genetics – cytogenetics – multifactorial genetics – molecular genetics – population genetics) and its role in modern medicine
2. student acquires practical skills in basic techniques used in molecular genetic laboratory
3. student learns select methodologies used in molecular genetic diagnostics and therapy
4. student will know how to basically interpret results of molecular genetic exams as based on model case reports
Poslední úprava: Laláková Marcela (30.08.2024)
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
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 9 tests. Each test is allocated maximum 5 or 10 points as based on its subject content (when all questions are answered correctly). Points from all tests are summed with the maximum achievable 70 points. Minimal passing grade is 50 points. In case of the final score lower than 50 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 50 points from all tests, completed Karyotype), the credit will be granted in the last practical class of the current winter 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.
Each student has to attempt credit at least once in winter examination period.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 summer and winter 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 (lalakovam@lfhk.cuni.cz). 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: Laláková Marcela (30.08.2024)
Sylabus - angličtina
Lectures:
Lecturer: Prof. PharmDr. Emil Rudolf, Ph.D.
Cytogenetics – principles, rules, medically relevant cases (aberrations of chromosomes)
The human genome – structure, function and diseases
Single gene inheritance – pedigrees, rules, examples
Multifactorial inheritance – rules, study methods, examples
Sex determination, genetics of sex development in man and DSDs
Pharmacogenetics and immunogenetics – rules, study methods, examples
Molecular genetic techniques in practical and clinical use
Tumor biology – introduction and basic principles
Practical courses:
Lecturers:
prof. PharmDr. Emil Ruolf, Ph.D.
doc. RNDr. Věra Králová, Ph.D.
RNDr. Kateřina Kápičková
1. Cytogenetics, cytogenetic diagnostic methods 1.1 Test – lecture Cytogenetics (10 points) 1.1 Outline and principles of cytogenetic methodology 1.2 Microscopic evaluation of human karyotype mount
2. Karyotype 2.1. Test – progress theory of Karyotype (5 points) 2.2 Karyotyping of human stabilized cells – laboratory (split study subgroups)
3. Monogenic inheritance (workshop I) 3.1. Test – lecture Single-gene inheritance (10 points) 3.2 Pedigree analysis, symbols and rules in select human monogenic traits (physiological and pathological) 3.3 Examples of mechanisms of inheritance and expression of monogenic traits in man deviating from Mendel´s rules
4. Basic molecular biology techniques I 4.1 Test – progress (e-course Methods part I) (5 points) 4.2 Isolation of DNA from human cells (1st subgroup) 4.3 Principles of select molecular biology techniques – e-learning (2nd subgroup)
5. Basic molecular biology techniques II 5.1 Test – progress (e-course Methods part I) (5 points) 5.2 Isolation of DNA from human cells (2nd subgroup) 5.3 Principles of select molecular biology techniques – e-learning (1st subgroup)
6. Molecular biology methods in medical diagnostics (workshop II) 6.1 Test – progress (e-course Methods part II) (10 points) 6.2 Processing and analysis of isolated nucleic acids 6.3 Examples of the diagnostic use of molecular methods – interactive workshop
7. Biological typing in man (workshop III) 7.1 Test – previous practical class (10 points) 7.2 Practical examples of the use of molecular methods for identification of people – interactive workshop
8. Polygenic and multifactorial genetics (workshop IV) 8.1 Test – lecture Polygenic and multifactorial inheritance (10 points) 8.2 Examples of traits and their inheritance – interactive workshop
9. Tumor biology 9.1 Test – preparatory material for the practical class (5 points) 9.2 Select phenotypical and histopathological features of tumor cells in vitro and in vivo – permanent mounts 9.3 Sporadic, familial and hereditary tumors – occurrence, differences, diagnostics
10. Population genetics (workshop V) 10.1 Test – lecture Population genetics (5 points) 10.1 Introductory concepts - Hardy-Weinberg law – interactive workshop
11. Summary of genetics course 11.1 Questions and Answers
