Biology and genetics - CNT003P1
Title: Biologie a genetika
Guaranteed by: Department of Medical Genetics 3FM CU (12-GEN)
Faculty: Third Faculty of Medicine
Actual: from 2019
Semester: winter
Points: 2
E-Credits: 2
Examination process: winter s.:
Hours per week, examination: winter s.:13/26, C+Ex [HS]
Capacity: unknown / unknown (unknown)
Min. number of students: unlimited
4EU+: no
Virtual mobility / capacity: no
Key competences:  
State of the course: taught
Language: Czech
Teaching methods: full-time
Level:  
Guarantor: prof. MUDr. Marie Černá, DrSc.
Examination dates   Schedule   
Annotation -
The subject 'Biology and Genetics' is taught in the bachelor study program: Nutritional Therapy, full-time study in the first year. It presents Cell and Molecular biology, General and Clinical Genetics.
Last update: Zoubková Hana, RNDr., Ph.D. (29.08.2019)
Aim of the course -

The aim of the course is to presents to students Cell and Molecular biology, General and Clinical genetics. The student will be able to understand the principles of heredity, will know hereditary disorders, chromosomal abnormalities and inherited metabolic disorders with the highest incidence. They will be able to understand the broader context of disease development, the role of environmental factors, their mutagenic, carcinogenic or teratogenic effect. They will understand biological mechanisms leading to tumor growth and the nature of immune reactions. The students will have concrete knowledge about possibilities of hereditary diseases prevention, about methods of genetic counseling, primary and secondary prevention, prenatal diagnostics, which they will be able to explain to the patient.

Last update: Zoubková Hana, RNDr., Ph.D. (29.08.2019)
Course completion requirements - 
The presentation of seminar work.

Writing a test with multichoice. The test contains 15 questions, each correctly answered question = 3 points, minimum number of points necessary for credit = 30.

Oral exam in the Biology and Genetics
Last update: Zoubková Hana, RNDr., Ph.D. (29.08.2019)
Literature -

Pritchard D. J. & Korf B. R.: Základy lékařské genetiky, 2. české vydání, Galén Praha 2021, ISBN 978-80-7492-513-9

Kočárek E.: Genetika, Scientia 2005

Adkinson J R, Brown M.D.: Elsevier‘s Integrated Genetics, 2007

Ústav dědičných metabolických poruch VFN a 1.LFUK: Metabolická příručka

Svačina, Š., Mullerová ,D., Bretšnajdrová, A.: Dietologie pro lékaře, farmaceuty, zdravotní sestry a nutriční terapeuty, Triton 2012, Část 2: Dieta u cukrovky str. 79-101, Vrozené metabolické poruchy str. 241-245, Část 3: Přehled diabetologických pojmů a dietologické problematiky

Last update: Černá Marie, prof. MUDr., DrSc. (17.06.2022)
Teaching methods -

lectures, seminars, seminar work

Last update: Zoubková Hana, RNDr., Ph.D. (29.08.2019)
Syllabus -

Molecuar biology, cell biology: Nucleic acids, structure, types and function, gene structure, genetic code, properties of genetic code, replication, transcription, translation. Cell and cell structure, cell cycle, morphology and chromosome ultrastructure and function, cell division: mitosis, meiosis, spermiogenesis, oogenesis, fertilisation, abnormalities of division and fertilisation.
- General genetics, Clinical genetics: basic genetic expressions, Mendel's principles, gene linkage, heredity of genetic diseases, inherited metabolic disorders, monogenic and polygenic autosomal and gonosomal heredity, polygenic heredity, examples of hereditary diseases, risks of hereditary diseases, calculations of risks. Immunogenetics: heredity of blood groups, HLA antigens, genetic determination of antibodies formation. 
- Genotoxicology: Mutagenesis: types of mutations and mutations consequences, physical, chemical and biological mutagens. Carcinogenesis: cell cycle regulation, protooncogens, tumor suppressor genes-its role and concequences of mutations in this genes, chromosomal changes in tumors, carcinogens, relations between mutagenesis and carcinogenesis. Teratogenesis: mechanisms of origin of fetal malformations, teratogens.
- Population genetics: Hardy-Weinberg law, conditions for H.-W. equilibrium and its use in clinical genetics, factors disturbing H.-W. equilibrium. 
- Clinical cytogenetics: inborn chromosomal abnormalities numerical and structural, causes of chromosomal abnormalities origin, consequences of chromosomal abnormalities, indications for prenatal and postnatal chromosomal examinations, examples of the most frequent chromosomal abnormalities. 
- Genetic counselling, preconceptional and prenatal care, genealogy, cytogenetic and molecular genetic methods, prenatal cytogenetic diagnosis - methods, indications, ethic problems in genetics. 
- Ecology: basic ecological problems, influence of environmental factors on human health.

Last update: Zoubková Hana, RNDr., Ph.D. (29.08.2019)