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Biology and Medical Genetics
Study Course Description
Course Description Statuss:Approved
Course Description Version:9.00
Study Course Accepted:12.12.2023 15:28:17
| Study Course Information | |||||||||
| Course Code: | BUMK_027 | LQF level: | Level 6 | ||||||
| Credit Points: | 2.00 | ECTS: | 3.00 | ||||||
| Branch of Science: | Biology; Genetics | Target Audience: | Nursing Science; Rehabilitation; Midwifery | ||||||
| Study Course Supervisor | |||||||||
| Course Supervisor: | Agnese Zariņa | ||||||||
| Study Course Implementer | |||||||||
| Structural Unit: | Department of Biology and Microbiology | ||||||||
| The Head of Structural Unit: | |||||||||
| Contacts: | Riga, 16 Dzirciema Street, bmk rsu[pnkts]lv, +371 67061584 | ||||||||
| Study Course Planning | |||||||||
| Full-Time - Semester No.1 | |||||||||
| Lectures (count) | 8 | Lecture Length (academic hours) | 2 | Total Contact Hours of Lectures | 16 | ||||
| Classes (count) | 8 | Class Length (academic hours) | 2 | Total Contact Hours of Classes | 16 | ||||
| Total Contact Hours | 32 | ||||||||
| Part-Time - Semester No.1 | |||||||||
| Lectures (count) | 8 | Lecture Length (academic hours) | 2 | Total Contact Hours of Lectures | 16 | ||||
| Classes (count) | 8 | Class Length (academic hours) | 2 | Total Contact Hours of Classes | 16 | ||||
| Total Contact Hours | 32 | ||||||||
| Study course description | |||||||||
| Preliminary Knowledge: | Knowledge of biology acquired within the framework of general secondary education (basics of cell biology and genetics). | ||||||||
| Objective: | To gain knowledge of humans as a unified system, starting with the elements of cell structure, their role in cell functions; on the role of genetic processes (from DNA to the integrity of the organism; the principle of DNA inheritance) in the maintenance and metabolism of health; creating a basis for more specialized medical studies, as well as to acquire the necessary skills in the use of this knowledge. | ||||||||
| Topic Layout (Full-Time) | |||||||||
| No. | Topic | Type of Implementation | Number | Venue | |||||
| 1 | Human biology. Diversity of life forms. The structure of the cell. The cell theory. Prokaryotes. Eukaryotes. Biologic membranes of cells. Plasma membrane structure and function. Cell transport and communications. Plasma membrane role in the development of human pathologies. | Lectures | 1.00 | auditorium | |||||
| 2 | Cytoplasm and its compounds. Hyaloplasm and organoid structure and functions. Organoid defects role in the development of human pathologies. | Lectures | 1.00 | auditorium | |||||
| 3 | Cell nucleus and its compound. Types of chromatin. Chromosomes. Human karyotype. Cell cycle, its regulation, control and pathologies. Types of cell division. Mitosis. Cell death. | Lectures | 1.00 | auditorium | |||||
| 4 | Meiosis. Gametogenesis. Pathologies of the gametogenesis. Conception and implantation. | Lectures | 1.00 | auditorium | |||||
| 5 | Nucleid acids, its structure and functions. DNA replication. Central dogma of molecular biology (translation, transcription). Genetic code. | Lectures | 1.00 | auditorium | |||||
| 6 | Introduction into human genetics. Mendel’s laws and Mendelian inheritance. Gene interactions. | Lectures | 1.00 | auditorium | |||||
| 7 | Main types of inheritance: monogenic, multifactorial, mitochondrial. Genetic disorders. | Lectures | 1.00 | auditorium | |||||
| 8 | Variability: genotypic and phenotypic. Mutations. Chromosome structure and count changes. | Lectures | 1.00 | auditorium | |||||
| 9 | Introduction into work with light microscope. Microslide analysis of different cells. Independent work: preparation of the protocol of the practical lesson. | Classes | 1.00 | auditorium | |||||
| 10 | Cell transport. Laboratory work: cell osmotic transport. Independent work: preparation of the protocol of the practical lesson. | Classes | 1.00 | auditorium | |||||
| 11 | Microslide analysis: The structure of human nucleus; Mitosis in plant and animal cell; chromosomes. Independent work: preparation of the protocol of the practical lesson. | Classes | 1.00 | auditorium | |||||
| 12 | Microslide analysis: meiosis and gametogenesis. Independent work: preparation of the protocol of the practical lesson. | Classes | 1.00 | auditorium | |||||
| 13 | Colloquim: cell biology. Molecular basis of heredity. Nucleic acids. DNA replication. Transcription, translation. Genetic code. Tasks of clinical cases. Independent work: preparation of the protocol of the practical lesson. | Classes | 1.00 | auditorium | |||||
| 14 | Genetic problem solving, based on Mendel’s laws of inheritance. Dominant and recessive traits – problem solving. | Classes | 1.00 | auditorium | |||||
| 15 | Pedigree analysis. Genetic problem solving, based on types of inheritance. Independent work: preparation of the protocol of the practical lesson. | Classes | 1.00 | auditorium | |||||
| 16 | Colloquium: medical genetics. Self-studies: presentation of pedigrees | Classes | 1.00 | auditorium | |||||
| Topic Layout (Part-Time) | |||||||||
| No. | Topic | Type of Implementation | Number | Venue | |||||
| 1 | Human biology. Diversity of life forms. The structure of the cell. The cell theory. Prokaryotes. Eukaryotes. Biologic membranes of cells. Plasma membrane structure and function. Cell transport and communications. Plasma membrane role in the development of human pathologies. | Lectures | 1.00 | auditorium | |||||
| 2 | Cytoplasm and its compounds. Hyaloplasm and organoid structure and functions. Organoid defects role in the development of human pathologies. | Lectures | 1.00 | auditorium | |||||
| 3 | Cell nucleus and its compound. Types of chromatin. Chromosomes. Human karyotype. Cell cycle, its regulation, control and pathologies. Types of cell division. Mitosis. Cell death. | Lectures | 1.00 | auditorium | |||||
| 4 | Meiosis. Gametogenesis. Pathologies of the gametogenesis. Conception and implantation. | Lectures | 1.00 | auditorium | |||||
| 5 | Nucleid acids, its structure and functions. DNA replication. Central dogma of molecular biology (translation, transcription). Genetic code. | Lectures | 1.00 | auditorium | |||||
| 6 | Introduction into human genetics. Mendel’s laws and Mendelian inheritance. Gene interactions. | Lectures | 1.00 | auditorium | |||||
| 7 | Main types of inheritance: monogenic, multifactorial, mitochondrial. Genetic disorders. | Lectures | 1.00 | auditorium | |||||
| 8 | Variability: genotypic and phenotypic. Mutations. Chromosome structure and count changes. | Lectures | 1.00 | auditorium | |||||
| 9 | Introduction into work with light microscope. Microslide analysis of different cells. Independent work: preparation of the protocol of the practical lesson. | Classes | 1.00 | auditorium | |||||
| 10 | Cell transport. Laboratory work: cell osmotic transport. Independent work: preparation of the protocol of the practical lesson. | Classes | 1.00 | auditorium | |||||
| 11 | Microslide analysis: The structure of human nucleus; Mitosis in plant and animal cell; chromosomes. Independent work: preparation of the protocol of the practical lesson. | Classes | 1.00 | auditorium | |||||
| 12 | Microslide analysis: meiosis and gametogenesis. Independent work: preparation of the protocol of the practical lesson. | Classes | 1.00 | auditorium | |||||
| 13 | Colloquim: cell biology. Molecular basis of heredity. Nucleic acids. DNA replication. Transcription, translation. Genetic code. Tasks of clinical cases. Independent work: preparation of the protocol of the practical lesson. | Classes | 1.00 | auditorium | |||||
| 14 | Genetic problem solving, based on Mendel’s laws of inheritance. Dominant and recessive traits – problem solving. | Classes | 1.00 | auditorium | |||||
| 15 | Pedigree analysis. Genetic problem solving, based on types of inheritance. Independent work: preparation of the protocol of the practical lesson. | Classes | 1.00 | auditorium | |||||
| 16 | Colloquium: medical genetics. Self-studies: presentation of pedigrees | Classes | 1.00 | auditorium | |||||
| Assessment | |||||||||
| Unaided Work: | During the study course students perform six laboratory works / tasks, submitting protocols for them. Each of the successful protocols accounts for 4% of the cumulative final score, for a total of 24%. The presentation of the family tree in the last lesson is assessed as excellent, satisfactory, unsatisfactory. In the case of an excellent presentation, students receive 0.5 points (5%) for the cumulative final grade. At the end of the study course, students are invited to fill in the course evaluation questionnaires for better feedback. | ||||||||
| Assessment Criteria: | Students' participation in classes and adherence to methodology in laboratory work are assessed; weekly examination of theoretical knowledge, ability to explain the results obtained in practical work, to draw conclusions in accordance with the obtained results - a total of 24% of the final grade. Students' knowledge and skills are assessed in 2 colloquia: • 1. colloquium - in cell biology and • 2. colloquium - in genetics. Both colloquia make up 76% of the final grade. At the end of the study course, the type of examination - cumulative exam. If the student is not satisfied with the assessment of the cumulative exam or has not fulfilled all the conditions for obtaining it, an exam consisting of multiple-choice questions is taken. | ||||||||
| Final Examination (Full-Time): | Exam (Written) | ||||||||
| Final Examination (Part-Time): | Exam (Written) | ||||||||
| Learning Outcomes | |||||||||
| Knowledge: | Students analyze the compliance of various eukaryotic cell structures with their functions; substantiates the relationship between cell structure and the role of abnormal functions in human pathology; compares the processes occurring in mitosis and meiosis; knows the main regularities of genetics; appreciates the importance of Mendelian experiments in the development of genetics; compare the results of monohybrid, dihybrid, polyhybrid and analytical crosses; explains DNA replication, transcription, translation; knows chromosomal pathologies, their causes, classifies the types of genetic traits and inheritance types of pathologies; substantiate its opinion by analyzing specific situations regarding the inheritance of human traits; uses the concepts and terms of biology discussed in the lectures and practical classes. Students' knowledge is assessed in the protocols and examinations of the practical work of the study course. | ||||||||
| Skills: | Students use a light microscope, prepare simple microslides; recognize various eukaryotic cells; different types of metaphase chromosomes; explain the relationship between the structure and the functions; graphically depict the phases of mitosis and meiosis and explain the ongoing processes; form oogenesis and spermatogenesis schemes; compile and analyze family trees of different inheritance types; classifiy variability and mutation types; discuss the mechanisms of gene, chromosome, genome mutations; solve simple problems of genetics and molecular biology. | ||||||||
| Competencies: | Students are able to anlyze simple situations in medical genetics. Students appreciate importance of organoids in function of organs and organ systems. | ||||||||
| Bibliography | |||||||||
| No. | Reference | ||||||||
| Required Reading | |||||||||
| 1 | Lekciju materiāls | ||||||||
| 2 | Krūmiņa A. un Baumanis V. 2015. Eikariotu šūnu bioloģija: citoloģiskie, molekulāri bioloģiskie un ģenētiskie aspekti. RSU | ||||||||
| 3 | Groma V. 2012. Šūna: uzbūve, funkcijas, molekulārie pamati. RSU. | ||||||||
| 4 | Alberts B. et al. 2015. Molecular Biology of the Cell. 6th edition. Garland Science, Taylor and Francis Group. | ||||||||
| 5 | Ārvalstu studentiem/For international students | ||||||||
| 6 | Alberts B. et al. 2015. Molecular Biology of the Cell. 6th edition. Garland Science, Taylor and Francis Group. | ||||||||
| Additional Reading | |||||||||
| 1 | Balodis V. un citi. 2015. Rokasgrāmata bioloģijā. Rīga, Zvaigzne ABC. | ||||||||
| 2 | Turnpenny P. D., Ellard S. 2022. Emery's Elements of Medical Genetics and Genomics. 16th Edition. Elsevier, Churchill Livingstone. | ||||||||
| 3 | Lodish H. et al. 2016. Molecular cell biology. 7th Edition. New York, NY: W.H. Freeman and Co. | ||||||||
| 4 | Ārvalstu studentiem/For international students | ||||||||
| 5 | Turnpenny P. D., Ellard S. 2022. Emery's Elements of Medical Genetics and Genomics. 16th Edition. Elsevier, Churchill Livingstone. | ||||||||
| 6 | Lodish H. et al. 2016. Molecular cell biology. 7th Edition. New York, NY: W.H. Freeman and Co. | ||||||||
| Other Information Sources | |||||||||
| 1 | NCBI mājas lapa | ||||||||
