Genetics and Molecular Biology for Optometrists

Course guarantor:

Aneta Buchtelová

Lecturer:

Aneta Buchtelová

Tutor:

Aneta Buchtelová, Iva Hammerbauerová, Kristýna Marková

Supervisor:

Department of Natural Sciences

Synopsis:

The course focuses on general, applied, and clinical genetics as well as molecular biology. Students are introduced to fundamental genetic concepts, the structure and function of genetic information, nucleic acids and proteins, the genetic code, and the mechanisms of gene expression, including protein synthesis. Core concepts of general genetics such as gene, allele, genotype, and phenotype are discussed, together with the principles of inheritance described by Mendels and Morgans laws.

The clinical genetics component covers modes of inheritance of genetic disorders, including autosomal and sex-linked monogenic inheritance, polygenic and multifactorial inheritance, and selected examples of hereditary diseases. The course also addresses mutagenesis, types of mutations and their consequences, physical, chemical, and biological mutagens, carcinogenesis, regulation of cell division, proto-oncogenes, tumor suppressor genes, and chromosomal alterations in cancer.

Further topics include clinical cytogenetics, congenital chromosomal abnormalities (numerical and structural), basics of epigenetics, immunogenetics, and the inheritance of blood groups. Students are also introduced to prenatal cytogenetic diagnostics (methods, indications, and ethical aspects), molecular cytogenetics and in situ hybridization techniques, assisted reproduction methods, genetic engineering, DNA cloning, and principles of gene therapy.

Learning outcomes: Students gain fundamental knowledge in general genetics, cytology and cytogenetics, clinical genetics, molecular biology, and genetic engineering, providing a foundation for further specialized study.

Requirements:

Course Credit Requirements:

1. Attendance at laboratory classes; in case of absence, a written excuse must be submitted and the class must be completed in agreement with the course instructor.

2. A presentation delivered to classmates on a selected topic in the field of genetic diseases.

3. Successful completion of the credit written test with a minimum score of 60%.

Examination Requirements:

1. Obtaining course credit.

2. The examination consists of a written test and an oral examination. Answers are graded with points according to their level of difficulty. The oral examination follows the correction of the written test. The final grade corresponds to the valid grading scale. If the result of any part is graded F, the overall exam result is automatically F.

Syllabus of lectures:

1. General Genetics: basic concepts, genetic information, nucleic acids and proteins

2. Clinical Genetics: modes of inheritance of hereditary diseases, monogenic autosomal inheritance, examples of genetic disorders; Mendels and Morgans laws

3. Molecular Biology: replication, transcription, translation

4. DNA Diagnostics: molecular biological methods

5. Cell Division, proto-oncogenes, tumor suppressor genes, apoptosis and necrosis

6. Mutagenesis and Carcinogenesis: types of mutations and their consequences; physical, chemical and biological mutagens

7. Clinical Cytogenetics: congenital chromosomal abnormalities numerical and structural

8. Prenatal Cytogenetic Diagnostics: methods and indications; ethical issues in genetics

9. Molecular Cytogenetics and In Situ Hybridization (mFISH, SKY, chromosome painting)

10. Monogenic Sex-Linked (Gonosomal) Inheritance: examples of genetic disorders

11. Polygenic and Mitochondrial Inheritance

12. Genetic Engineering and DNA Cloning (restriction enzymes, vectors, recombinant DNA); Genetically Modified Organisms

13. Multifactorial Inheritance

14. Gene Therapy: in vitro and in vivo approaches

Syllabus of tutorials:

1. Requirements for course credit, DNA, RNA and proteins

2. Central dogma of molecular biology replication, transcription, translation, genetic code, methods

3. Cell cycle mitosis, meiosis, nondisjunction

4. Mutations and mutagenesis, proto-oncogenes, tumor suppressor genes

5. Mendels and Morgans laws examples

6. Monogenic autosomal inheritance examples of diseases

7. Midterm test, Barr body staining

8. Presentation monogenic autosomal inheritance, examples of diseases

9. Presentation monogenic sex-linked (gonosomal) inheritance, examples of diseases

10. Human genome and cytogenetics, chromosomal aberrations

11. Genealogy (pedigree analysis)

12. Genetics problems (exercise)

13. Genetics problems (exercise)

14. Final credit test

Study Objective:

The aim of the course is to provide students with comprehensive theoretical foundations in general, clinical, and applied genetics as well as molecular biology. The course objectives are to:

- introduce the structure and function of genetic information and the mechanisms of gene expression,

- explain the principles of inheritance at the gene, chromosomal, and population levels,

- clarify the molecular basis of mutations, their consequences, and their role in carcinogenesis,

- present the fundamental principles of clinical genetics, cytogenetics, and molecular genetic diagnostics,

- develop understanding of the genetic mechanisms underlying hereditary diseases,

- provide an overview of modern genetic methods, including genetic engineering, assisted reproduction, and gene therapy.

Study materials:

[1] NUSSBAUM R.L. et al. Thompson and Thompson genetics in medicine, W.B. Saunders, Philadelphia 2001, USA, ISBN: 0-7216-6902-6.

[2] NORTHROP, R.B., CONNOR, A.N.. Introduction to molecular biology, genomics, and proteomics for biomedical engineers. Boca Raton: CRC Press/Taylor & Francis, 2009. ISBN: 9780429148767.

[3] ALBERTS, B. et al. Molecular biology of the cell: reference edition. 5th ed. New York: Garland Science, 2008. ISBN: 978-0-8153-3218-3.

Note:

Further information:

https://predmety.fbmi.cvut.cz/cs/F7PBOGMB

Time-table for winter semester 2025/2026:

Time-table is not available yet

Time-table for summer semester 2025/2026:

	06:00–08:0008:00–10:0010:00–12:0012:00–14:0014:00–16:0016:00–18:0018:00–20:0020:00–22:0022:00–24:00
Mon
Tue
Wed	roomKL:B-223 Marková K. 08:00–09:50 (lecture parallel1) Kladno FBMI roomKL:B-223 Buchtelová A. 10:00–11:50 (lecture parallel1) Kladno FBMI roomKL:B-220 Buchtelová A. 14:00–15:50 (lecture parallel1) Kladno FBMI
Thu	roomKL:B-223 Hammerbauerová I. 10:00–11:50 (lecture parallel1) Kladno FBMI roomKL:B-223 Hammerbauerová I. 12:00–13:50 (lecture parallel1) Kladno FBMI
Fri

The course is a part of the following study plans:

• Optics and Optometry (compulsory course)