Principles of Genetics - MB140P16
Title: Základy genetiky
Czech title: Základy genetiky
Form of teaching: lecture
Guaranteed by: Department of Genetics and Microbiology (31-140)
Faculty: Faculty of Science
Actual: from 2025 to 2025
Duration in semesters: 1
Semester: winter
E-Credits: 3
Examination process: winter s.:
Hours per week, examination: winter s.:3/0, Ex [HT]
Capacity: unlimited
Maximum number of enrolled students: unlimited
Min. number of students: unlimited
4EU+: no
Virtual mobility / capacity: no
State of the course: taught
Language: Czech
Level: basic
Repeated enrollment: 2 / 2 / 2 / 2
Note: enabled for web enrollment
Guarantor: RNDr. Michaela Schierová, Ph.D.
Teacher(s): RNDr. Radka Reifová, Ph.D.
RNDr. Michaela Schierová, Ph.D.
Incompatibility : MB140P17, MB140P47
Is incompatible with: MB140P47, MB140P17
In complex pre-requisite: MB110P99
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download HARMONOGRAM ZG 2025.docx Harmonogram 2025-26 RNDr. Michaela Schierová, Ph.D.
Annotation -
The lecture introduces students to the main topics of the rapidly developing field, connects classical and molecular biological concepts, and more space is also devoted to population and evolutionary genetics. Traditional topics are expanded, for example, to include the use of DNA polymorphisms in gene mapping, in molecular taxonomy and forensic genetics, the genetics of sex determination, and the basics of epigenetics.
An integral part is the solution of model genetic problems (mainly analyses of genetic cross reults). The lecture is recommended for students of the 1st or 2nd year of the bachelor's degree program in Biology. Basic knowledge of cellular and molecular biology is a prerequisite. Students can also choose Fundamentals of Genetics - Exercises (MB140C16), which freely follow the lecture.

To prepare for the exam, you can use not only the presentations for the lecture, but also links to recordings of lectures from 2020/21, which are stored on the Charles University streamserver

The lectures are freely followed by seminar (MB140C16)
Assignments for exercises will also be presented on Moodle
Consultations by prior arrangement - after the lecture, exercise or by e-mail.

The address to the course on Moodle (lecture and exercise presentation) for the year 2025/26 will be updated before the start of the semester. Log in to the Moodle page - you will have access to current links to assignments, tests, etc.

Please note, the lectures are given in Czech language only. The modified English version is the course MB140P16E.
Last update: Schierová Michaela, RNDr., Ph.D. (31.07.2025)
Literature -

Klug W.S., Cummings M.R., Spencer C.: Concepts of Genetics (8th ed.). Pearson Education, Inc., Upper Saddle River, NJ, USA, 2006.

Snustad D.P., Simmons M.J.: Principles of Genetics (4th ed.). John Wiley and Sons, Inc., Hoboken, NJ, USA, 2006.

Russell P.J.: i-Genetics: A Mendelian Approach. Pearson Education, Inc., and Benjamin Cummings, San Francisco, CA, USA, 2006.

Griffiths A.J.F., Wessler S.R., Lewontin R.C., Gelbart W.M., Suzuki D.T., Miller J.H.: Introduction to Genetic Analysis (8th ed.). W.H. Freeman and Company, New York, NY, USA, 2005.

Last update: Lichá Irena, RNDr., CSc. (12.05.2009)
Course assessment methods and requirements for successful completion, grading scheme

The exam is written, except for final attempt , which is oral. The test consists of 17 theoretical questions and 5 problems. All questions and problems are weighted equally – by 5 points.

During the semester, extra-points can be earned through continuous knowledge tests and problem-solving.

Grading Scale

  • Excellent: above 94 points
  • Very Good: above 77 points
  • Good: above 60 points
Last update: Schierová Michaela, RNDr., Ph.D. (09.03.2026)
Syllabus -

Genetic Terminology:
Traits, genes, alleles. Structure of bacterial and eukaryotic genes. Shift in the concept of traits (biochemical traits, restriction fragment length, DNA polymorphism). Alleles: how they differ. Dominance and recessivity. Multiple alleles (multiallelism). Relativity of the relationship between alleles. Genotype and genome. Genotype and phenotype. Homozygote and heterozygote. Genetic symbolism. Expressivity and penetrance. Pleiotropy.

Basics of Cytogenetics:
The cell nucleus. Eukaryotic chromosomes: structure and classification. Euchromatin and heterochromatin. Homologous chromosomes, autosomes, and gonosomes (sex chromosomes). Mitosis, meiosis. Banding techniques. Karyotype. Chromosomal mutations: numerical, structural, and associated syndromes. In situ hybridization. Polyploidy. Cell-free DNA. Special types of chromosomes: lampbrush, polytene, holocentric chromosomes.

Transmission Genetics:
Mendel’s laws. Relationship with meiosis. Parental and filial generations. Types of crosses. Genotypic and phenotypic ratios. Gene interactions: types, causes, examples. Phenotypic ratios. Sex-linked, sex-limited, and sex-influenced inheritance. Derivation of complex ratios. Hypothesis testing. Pedigree analysis.

Genetics of Sex Determination:
Genes, chromosomes, plasmids. Phenotypic sex (primary and secondary sex characteristics) vs. fertility. Chromosomal sex determination: human sex chromosomes, comparison, and evolution. Haplodiploid sex determination in bees.

Gene Linkage:
Recombination and crossing over. Relationship with meiosis. Recombinant and non-recombinant gametes. Linkage phases (cis and trans). Analytical backcross – B1 generation. Derivation of ratios, determining the distance between two genes. Morgan and Bateson numbers. Gene mapping. Two-point test cross. Three-point test cross. Genetic and cytogenetic maps. Conjugational mapping in bacteria.

Extranuclear Inheritance:
Phenotypic expressions. Endosymbiotic theory. Gene content of cpDNA and mtDNA. Human diseases and mtDNA.

Nucleic Acids:
Properties of genetic material. Evidence for the function of DNA and RNA. DNA structure. Genomes. Types of DNA sequences: by product, frequency, and cellular localization. Unique and repetitive sequences. Multigene families. Use of repetitive sequences in forensic genetics and molecular taxonomy (microsatellites, RAPD, RFLP).

Mutations and Mutagens:
Classification of mutations. Classification of mutagens. Mutagenicity testing. Repair systems. Transposons and mutations. Use of mutants in biology.

Gene Expression:
Terminology. Key features of gene expression regulation in bacteria and eukaryotes. Oncogenesis: regulatory failure. Two-hit hypothesis of oncogenesis. Oncogenes and tumor suppressor genes. Developmental genetics: maternal and zygotic genes. Homeotic genes: regulatory cascades. Quantitative genetics: quantitative traits, threshold traits. Polygenic system theory. Influence of genotype and environment on phenotypic variability. Twin studies. Epigenetics, imprinting. Phenotypic expression of epigenetic failures in embryogenesis and aging. X-chromosome inactivation – dosage compensation.

Population Genetics:
Different approaches of classical and population genetics. Modern synthesis and understanding evolution as changes in allele frequencies. Panmictic population, effective population size, genetic polymorphism, haplotype. Methods for studying genetic polymorphism. Hardy-Weinberg equilibrium. Inbreeding. Mechanisms of change in allele frequencies (genetic drift, selection, evolutionary drives, migration). Types of selection. Fitness and selection coefficient. Linkage disequilibrium.

Evolutionary Genetics:
Genetics of speciation. Defining a species. Origin of reproductive isolation. Prezygotic and postzygotic (intrinsic and extrinsic) reproductive isolation barriers. Role of sex chromosomes in speciation. Allopatric, sympatric, and parapatric speciation. Speciation via polyploidization and hybridization. Hybrid zones. Reinforcement. Role of selection, drift, and gene conflicts in speciation. Neutral theory and coalescence theory. Probability of mutation fixation. Average time to fixation. Substitution rate. Intraspecific genetic variability and interspecific divergence. Measuring polymorphism and divergence. Phylogenetic trees. Molecular clocks. Relationship between molecular and phenotypic evolutionary rates.

 

Last update: Schierová Michaela, RNDr., Ph.D. (09.03.2026)
Learning outcomes -

Upon successful completion of this course, the student:

1. Terminology and Molecular Foundations

  • Defines basic genetic terms (gene, allele, genotype, phenotype, homozygote, heterozygote, hemizygote, genome, haplotype).
  • Describes the structure of bacterial and eukaryotic genes and explains the differences in their organization.
  • States the characteristic properties of the DNA molecule and interprets the concept of the genetic code and its properties.
  • Compares the bacterial and eukaryotic genomes in terms of size, structure, and the presence of repetitive sequences.
  • Explains the principles of gene expression regulation in prokaryotes (operons) and eukaryotes.

2. Cytogenetics and Cell Division

  • Describes the structure of the eukaryotic chromosome (nucleosome, chromatin) and classifies chromosomes according to centromere position.
  • Arranges in logical sequences the phases of mitosis and meiosis and performs an analysis of changes in cell ploidy throughout these processes.
  • Identifies types of structural and numerical chromosomal mutations and evaluates their impact on the individual's phenotype (including clinical syndromes).
  • Lists methods for studying chromosomes (banding techniques, in situ hybridization, karyotyping).
  • 3. Classical Genetics and Inheritance of Traits
  • Explains the essence of Mendel's laws and their connection to chromosome behavior during meiosis.
  • Distinguishes between different allelic relationships (complete dominance, incomplete dominance, codominance, multiple alleles).
  • Applies the rules of gene interactions (epistasis, complementarity) to specific examples and derives modified phenotypic segregation ratios.
  • Interprets pedigrees and, based on them, determines the type of inheritance (autosomal vs. gonosomal, dominant vs. recessive).
  • Explains the relationships between genes, chromosomes, and the environment for sex-linked, sex-limited, and sex-influenced traits.
  • 4. Gene Linkage and Extranuclear Inheritance
  • Defines a linkage group and distinguishes between cis and trans linkage phases.
  • Explains the essence of recombination (crossing-over) and its significance for genetic variability.
  • Calculates gene distance in centimorgans (cM) based on test cross results (two-point and three-point tests).
  • Describes the specifics of extranuclear inheritance (mtDNA, cpDNA) and justifies the semi-autonomy of organelles based on the endosymbiotic theory.
  • 5. Mutations, Epigenetics, and Developmental Genetics
  • Categorizes mutations according to their origin and impact on the product (e.g., frameshift mutations, hypomorphic alleles) and provides examples of mutagens.
  • Explains the mechanisms of DNA repair systems and the consequences of their defects (e.g., Xeroderma pigmentosum).
  • Describes the principles of epigenetics (imprinting, X-chromosome inactivation) and justifies their importance for dosage compensation and ontogenesis.
  • Identifies the role of proto-oncogenes and tumor-suppressor genes in oncogenesis.
  • 6. Population and Evolutionary Genetics
  • Defines the conditions of the Hardy-Weinberg equilibrium and calculates allele and genotype frequencies in a population.
  • Analyzes the causes and consequences of evolutionary factors (genetic drift, selection, migration, mutation) on the genetic structure of populations.
  • Describes the effect of inbreeding on autogamous populations.
  • Compares mechanisms of speciation (allopatric, sympatric) and explains the significance of reproductive isolating barriers.
  • Interprets phylogenetic trees and the principle of molecular clocks.
  • 7. Practical Skills and Applications
  • Solves complex model genetic problems involving crosses, gene linkage, probability calculations, and population frequencies.
  • Provides examples of the use of genetics in practice (forensic genetics, gene mapping, molecular taxonomy, genetic modifications).
  • Proposes an experimental procedure to verify the genetic linkage between two loci.
  •  
Last update: Schierová Michaela, RNDr., Ph.D. (09.03.2026)
The course does not include work placement