C7175en DNA diagnostics

Přírodovědecká fakulta
podzim 2026
Rozsah
2/0/0. 2 kr. (plus 2 za zk). Ukončení: zk.
Vyučováno kontaktně
Vyučující
doc. Mgr. Jan Lochman, Ph.D. (přednášející)
prof. RNDr. Omar Šerý, Ph.D. (přednášející)
Garance
prof. RNDr. Omar Šerý, Ph.D.
Ústav biochemie – Chemická sekce – Přírodovědecká fakulta
Dodavatelské pracoviště: Ústav biochemie – Chemická sekce – Přírodovědecká fakulta
Předpoklady
Without preconditions.
Omezení zápisu do předmětu
Předmět je nabízen i studentům mimo mateřské obory.
Mateřské obory/plány
Anotace
The course DNA Diagnostics introduces students to the fundamentals of modern molecular diagnostics and its applications in biology, medicine, and forensic science. It combines the historical development of the field, the theoretical foundations of molecular biology, and practical applications in clinical and laboratory practice. The main topics covered include the structure and replication of DNA, isolation and analysis of nucleic acids, the principles of PCR and isothermal amplification methods, Real-Time PCR, DNA polymorphisms and restriction analysis, DNA microarray technologies, first-, second-, and third-generation sequencing, diagnosis of genetic disorders and infectious diseases, and applications in human identification and paternity testing. The specificity of the course lies in linking molecular biology with clinical diagnostics, illustrating how theoretical principles translate into everyday laboratory practice. The course is part of the Master’s curriculum in biochemistry, molecular biology, and related disciplines. It builds on core courses in genetics, biochemistry, and molecular biology and prepares students for applied courses in molecular medicine, clinical biochemistry, and forensic genetics.
Výstupy z učení
By completing the course, students will: understand the fundamental principles of DNA diagnostics, be able to apply them to examples from clinical and research practice, be familiar with modern molecular biology technologies, and be prepared to use this knowledge in subsequent courses and professional practice.
Klíčová témata
Course Structure and Content Lecture 1 – History of DNA Diagnostics Mendel, Garrod, Franklin, Watson & Crick, Sanger, Mullis, Human Genome Project Development of computing, internet databases, and bioinformatics Complete lecture available in IS as a study text Lecture 2 – Structure and Replication of DNA Components and structure of nucleic acids Physical properties and replication mechanisms Required Reading: Shen, Buckingham (specified chapters) Lecture 3 – Extraction, Purification, Quantification, and Gel Electrophoresis Isolation and purification techniques Quantification methods Agarose and polyacrylamide gel electrophoresis Required Reading: Shen, Buckingham Lecture 4 – PCR and Isothermal Amplification Principles of PCR Factors influencing PCR performance Isothermal amplification methods Required Reading: Shen, Buckingham Lecture 5 – DNA Polymorphisms and Restriction Analysis Types of DNA polymorphisms Restriction enzymes and RFLP analysis Required Reading: Shen, Buckingham Lecture 6 – Real-Time PCR Quantitative PCR (qPCR) principles Fluorescence-based detection methods (SYBR Green, TaqMan probes) Clinical applications in virology, oncology, pharmacogenomics Required Reading: Shen Lecture 7 – DNA Microarrays and Sequencing DNA chip technology Sequencing: Sanger, NGS, third-generation technologies Required Reading: Shen, Buckingham Lecture 8 – Molecular Diagnosis of Genetic Diseases, Human Identification, Paternity Testing Single-gene disorders STR and Y-STR typing Forensic applications Required Reading: Shen, Buckingham Lecture 9 – DNA Diagnostics of Infectious Diseases Molecular detection of bacteria, fungi, and viruses Sample collection and preparation Quality assurance Required Reading: Shen, Buckingham
Studijní zdroje a literatura
    povinná literatura
  • SHEN, Chang-Hui. Diagnostic molecular biology. Second edition. London: Elsevier, 2023, xix, 568. ISBN 9780323917889. info
  • BUCKINGHAM, Lela. Molecular diagnostics : fundamentals, methods, and clinical applications. Third edition. Philadelphia: F.A. Davis Company, 2019, xvi, 560. ISBN 9780803668294. info
Přístupy, postupy a metody používané ve výuce
Self-study of recommended textbook chapters One full lecture available as a written study text in IS (Lecture 1) Scheduled consultation sessions with Prof. Šerý and Assoc. Prof. Lochman Recommended supplementary materials available in the library and online databases
Způsob ověření výstupů z učení a požadavky na ukončení
Oral exam
Vyučovací jazyk
Angličtina
Další komentáře
Předmět je vyučován každoročně.
Výuka probíhá každý týden.
Předmět je zařazen také v obdobích jaro 2023, jaro 2024, podzim 2024, podzim 2025.