C1210 Základy genetiky pro biochemiky

Faculty of Science
Autumn 2024
Extent and Intensity
2/0/0. 2 credit(s) (plus 2 credits for an exam). Type of Completion: zk (examination).
In-person direct teaching
Teacher(s)
prof. RNDr. Omar Šerý, Ph.D. (lecturer)
Guaranteed by
prof. RNDr. Omar Šerý, Ph.D.
Department of Biochemistry – Chemistry Section – Faculty of Science
Supplier department: Department of Biochemistry – Chemistry Section – Faculty of Science
Timetable
Tue 12:00–13:50 B11/335
Prerequisites
Basic knowledge of Biology from high school.
Course Enrolment Limitations
The course is also offered to the students of the fields other than those the course is directly associated with.
fields of study / plans the course is directly associated with
Course objectives
The lecture aims to explain the basic concepts and principles of genetics. On completion of the course, students will have an overview of the basic principles of genetics for biotechnology and medicine, which they will be able to apply in subsequent courses.
Learning outcomes
On completion of the course, students will be able to understand the basic principles of genetics and the methods used in biotechnology and medicine and be able to apply them in subsequent courses.
Syllabus
  • 1. History, present and uses of genetics, Gregor Johann Mendel and his life, Mendel's study of heredity, the principle of dominance, the principle of segregation, the principle of independent combination, Mendel's principles in human genetics, Sir Archibald Edward Garrod. 2. Cell, prokaryotic and eukaryotic cell, cell nucleus, DNA - structure and replication, RNA, genetic information, genetic code, chromosomes and their structure, genes - introns and exons, cell division, mitosis, meiosis. 3. Genotype and phenotype, gene expression, transcription and translation, gene polymorphisms, allelic variants, repetitive sequences, microsatellites and minisatellites, insertion-deletion polymorphisms, gene mutations (congenital x acquired), penetrance and expressivity, gene interactions, gene linkage, epistasis, pleiotropy, inbreeding, chromosomes and their number, sex chromosomes, chromosomal changes, changes in chromosome number, changes in chromosome structure. 4. Epigenetics, cytosine methylation, histone acetylation, non-coding DNA, regulatory RNA, miRNA, environmental effects on genes and gene expression 5. Genetic research methods - family studies, twin studies, adoption studies, linkage analysis, association studies, genome-wide association studies, methods for studying DNA polymorphisms. 6. Inheritance of complex traits - quantification of complex traits, influence of environment and genes on complex traits, statistical description of quantitative traits - Gaussian distribution, mean, variance, standard deviation, heritability. Mitochondrial and chloroplast genome - mitochondrial structure, mitochondrial inheritance, chloroplasts. 7. Population genetics - Determination of allelic and genotypic frequencies, Hardy-Weinberg law, natural selection, random genetic drift. Human genome - human genome project, mapping and sequencing of the human genome, structure of the human genome, significance of the human genome project. 8. Human genetics - monogenic genetic disorders, inborn errors of metabolism - cystic fibrosis, phenylketonuria, alkaptonuria, sex-linked genes and their mutations, inherited cancer predisposition - breast and ovarian cancer, neurofibromatosis. 9. Human genetics - chromosomal abnormalities and diseases caused by them, numerical abnormalities, structural abnormalities, congenital x acquired abnormalities, Down syndrome, Edwards syndrome, Patau syndrome, Turner syndrome, Klinefelter syndrome, Cri du chat syndrome, DiGeorge syndrome. 10. Human genetics - polygenic and multifactorial diseases - cardiovascular diseases (hypertension, stroke, myocardial infarction), metabolic syndrome and diabetes mellitus, Alzheimer's disease. 11. Evolutionary Genetics - Darwin's Theory of Evolution, Current Trends in Evolutionary Theory, DNA Variation, Molecular Phylogeny, Origin of Species, Human Evolution
Literature
    required literature
  • SNUSTAD, D. Peter and Michael J. SIMMONS. Genetika. Translated by Jiřina Relichová. Druhé, aktualizované vydá. Brno: Masarykova univerzita, 2017, xix, 844. ISBN 9788021086135. info
    recommended literature
  • KLUG, William S., Michael R. CUMMINGS, Charlotte A. SPENCER, Michael Angelo PALLADINO and Darrell KILLIAN. Concepts of genetics. Global edition. New York: Pearson, 2020, 862 stran. ISBN 9781292265322. info
    not specified
  • Nussbaum a kol. Klinická genetika. ISBN 80-7254-475-6. info
Teaching methods
Lectures and required reading of recommended literature.
Assessment methods
Written examination in test form with open questions.
Language of instruction
Czech
Further Comments
Study Materials
The course can also be completed outside the examination period.
The course is taught annually.
The course is also listed under the following terms Autumn 2023.
  • Enrolment Statistics (recent)
  • Permalink: https://is.muni.cz/course/sci/autumn2024/C1210