Bi7291en Human Genetics

Faculty of Science
autumn 2021

The course is not taught in autumn 2021

Extent and Intensity
2/0/0. 2 credit(s) (plus extra credits for completion). Type of Completion: zk (examination).
Mgr. Jan Smetana, Ph.D. (lecturer)
doc. RNDr. Petr Kuglík, CSc. (lecturer)
Guaranteed by
doc. RNDr. Petr Kuglík, CSc.
Department of Experimental Biology - Biology Section - Faculty of Science
Contact Person: Mgr. Jan Smetana, Ph.D.
Supplier department: Department of Experimental Biology - Biology Section - Faculty of Science
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 main goal of the course is to provide basic insight into the field of human genetics with focus on principles, approaches and techniques used in clinical praxis of medical genetics. The knowledge will allow students to obtain a molecular-genetic insight into selected areas of human genetics.
Learning outcomes
At the end of the course, students should be able to describe the structure of the human genome and formulate the basic principles and approaches in field of medical genetics. They will have solid knowledge of molecular genetic and genomic techniques used in clinical genetic diagnostics. They will be able to describe molecular basis of common hereditary diseases (both mono and polygenic), explain principles of pharmacogenomics and gene-therapy treatments and be familiar with basic facts of forensic genetics
  • Osnova
  • 1) The Basics of Heredity, Mendel´s Laws in Humans - Mendelian inheritance - history, principles of segregation and independent assortment - Allelic interactions, gene interactions. - Mechanisms of sex determination. Inheritance of sex-linked genes
  • 2) Human Cytogenetics and Cytogenomics - History of human cytogenetic. Instrumental analysis of cytogenetic structures. Light microscopy, phase microscopy, fluorescent microscopy. Human chromosomes. - Basic techniques of cytogenetic preparation making, Chromosome banding methods, Human Cytogenomic Nomenclature (ISCN) - Molecular cytogenetics, fluorescence in situ hybridization (FISH), M-FISH, mBAND, SKY - Genome-wide screen techniques (Array-CGH, SNP arrays)
  • 3) The Human Genome - Mutations and polymorphisms of human DNA, structural genome variability - History of sequencing of human genome. - The HUGO project. Population genome sequencing. 1000 Genome project, Personal Genome Project, MEGA. - Utilization of genomic databases in clinical praxis
  • 4) Medical Genetics part 1 - The role of genetics in medicine, genetic counseling. - Major types of genetic diseases. - Single gene disorders, human diseases with Mendelian inheritance, direct DNA diagnostics, non-direct DNA diagnostics, RNA diagnostics
  • 5) Medical genetics part 2 - Genetics of disorders of intellectual development, rare chromosomal diseases and complex diseases
  • 6) Medical genetics part 3 - Mechanisms of chromosome rearrangements, origin and consequences of chromosome pathology - Chromosome structural variations, microdeletion and microduplication syndromes, inversion, translocations, - copy number variation (CNVs), marker chromosomes
  • 7) Cancer cytogenetics - Cytogenetic abnormalities in hematological malignancies and solid tumors, chromothripsis - Tumor suppressors and oncogenes. Prognostic markers in common solid tumors and leukemias. Examples of prognostic models of different malignant diagnoses based on genetic biomarkers
  • 8) Prenatal Diagnosis - Indication for prenatal diagnosis. - Genetic analysis of fetal genome. Amniocentesis vs non-invasive genome-wide screening. Aneuploidy, Down syndrome and other autosomal trisomy
  • 9) Preimplantation genetic analysis (PGA) - Overview of reproduction genetics. Genetic cause of infertility, in vitro fertilization - Utilization preimplantation genetic diagnostics (PGD) and screening (PGS) - Legal and ethical aspects of PGA
  • 10) Personal genetic identification - SNP identification, genotyping, forensic DNA analysis, paternity DNA testing, DNA biobanking
  • 11) Pharmacogenetics and pharmacogenomics - Genetic makeup and drug response, personalized medicine and treatment strategies
Teaching methods
Assessment methods
written test
Language of instruction
Further Comments
The course is taught annually.
The course is taught: every week.

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