C7175en DNA diagnostics

Faculty of Science
Autumn 2025
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)
doc. Mgr. Jan Lochman, Ph.D. (lecturer)
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
Mon 18:00–19:50 C05/107
Prerequisites
Without preconditions.
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
Abstract
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.
Learning outcomes
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.
Key topics
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
Study resources and literature
    required literature
  • 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
Approaches, practices, and methods used in teaching
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
Method of verifying learning outcomes and course completion requirements
Oral exam
Language of instruction
English
Further Comments
Study Materials
The course is taught annually.
The course is also listed under the following terms Spring 2023, Spring 2024, Autumn 2024.
  • Enrolment Statistics (recent)
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