Human Genetics - MB140P07
Title: Genetika člověka
Czech title: Genetika člověka
Guaranteed by: Department of Genetics and Microbiology (31-140)
Faculty: Faculty of Science
Actual: from 2020 to 2023
Semester: winter
E-Credits: 3
Examination process: winter s.:oral
Hours per week, examination: winter s.:2/0, Ex [HT]
Capacity: unlimited
Min. number of students: unlimited
4EU+: no
Virtual mobility / capacity: no
State of the course: taught
Language: Czech
Level: specialized
Additional information: http://V době epidemických opatření probíhá výuka online prostřednictvím komunikační platformy Google meet v době uvedené v rozvrhu. Požadavky ke zkoušce zůstávají stejné.
Note: enabled for web enrollment
Guarantor: doc. MUDr. Milada Kohoutová, CSc.
Teacher(s): doc. MUDr. Milada Kohoutová, CSc.
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Annotation -
The principal aim of this subject is to enlighten students on genetic principles and approaches in man including physiological and pathological conditions. Diagnostic and preventive interventions and therapeutic feasibility are emphasised in hereditary diseases. New research informations on molecular and chromosomal level are presented.

Literature:

Gelehrter TD., Collins FS., Ginsburg D.: Principles of Medical Genetics., Williams and Wilkins, Baltimore, USA 1998.
Last update: Kohoutová Milada, doc. MUDr., CSc. (14.05.2020)
Literature - Czech

Literatura:

Berta Otová a kol.: Lékařská biologie a genetika (I.díl), Karolinum, 2014
 
Milada Kohoutová a kol.: Lékařská biologie a genetika (II.díl), Karolinum 2012
 
Aleš Panczak a kol.: Lékařská biologie a genetika (III.díl), Karolinum 2013

Last update: Kohoutová Milada, doc. MUDr., CSc. (14.05.2020)
Requirements to the exam

presence on lectures

Last update: Schierová Michaela, RNDr., Ph.D. (29.10.2019)
Syllabus -

The role of Genetics in Medicine. Mendelian inheritance, family history analysis. Patterns of autosomal and X-linked inheritance. Multifactorial inheritance, heritability. Non-Mendelian inheritance. Genetic linkage and its analysis. Genetic mapping. Cellular basis of inheritance. Cell cycle and its regulation. Structure of Chromosomes. Chromosomal disorders. Examination of human chromosomes. Prenatal diagnostics. Molecular biology and genetics. Gene expression and its regulation.  Mutations and mutagens.  DNA repair. Molecular basis of genetic diseases. DNA diagnostics methods. Gene manipulation and therapy. Physical mapping, HUGO. Immunogenetics. Genetics of immunoglobulin structure and function. Genetics of transplantation. Blood groups, HLA. Genetic control of immune response. Developmental genetics. Cell differentiation, ageing and death. Dysmorphology, teratogens. Genetics of cancer. Characterization of cancer cells and growth. Oncogenes, tumour suppressor genes, mutator genes. Cancer families and presymptomatic diagnostics of cancers. Population genetics. Mendelian population equilibrium. Natural selection. Inbreeding. Genetic drift and gene flow.  Genetic mechanisms of evolution. Evolution of human species. Genetic counselling. Carrier detection and presymptomatic tests. Population screening. Prevention and treatment of genetic diseases. Ethical issues in medical genetics

Last update: Schierová Michaela, RNDr., Ph.D. (29.10.2019)