.
Biology and Medical Genetics
Study Course Description
Course Description Statuss:Approved
Course Description Version:1.00
Study Course Accepted:12.12.2023 16:47:22
| Study Course Information | |||||||||
| Course Code: | BUMK_070 | LQF level: | Level 6 | ||||||
| Credit Points: | 2.00 | ECTS: | 3.00 | ||||||
| Branch of Science: | Biology; Genetics | Target Audience: | Nursing Science | ||||||
| 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) | 12 | Class Length (academic hours) | 2 | Total Contact Hours of Classes | 24 | ||||
| Total Contact Hours | 40 | ||||||||
| Part-Time - Semester No.1 | |||||||||
| Lectures (count) | 8 | Lecture Length (academic hours) | 2 | Total Contact Hours of Lectures | 16 | ||||
| Classes (count) | 12 | Class Length (academic hours) | 2 | Total Contact Hours of Classes | 24 | ||||
| Total Contact Hours | 40 | ||||||||
| 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 | The main types of birth of signs. Analysis of different birth types. Monogenic birth types. Human traits, examples of congenital anomalies. Multifactorial birth type. Mitochondrial birth type. Importance of genetic pathology in clinical practice. | 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. The role of molecular biology in disease diagnosis. | Classes | 1.00 | auditorium | |||||
| 14 | Molecular basis of heredity. Nucleic acids. DNA replication. Transcription, translation. Genetic code. Clinical case tasks. Preparation of a practical work description. | Classes | 1.00 | auditorium | |||||
| 15 | Genetic problem solving, based on Mendel’s laws of inheritance. Dominant and recessive traits – problem solving. | Classes | 1.00 | auditorium | |||||
| 16 | Blood type genetics. Blood type genotypes and phenotypes, description. Clinical tasks. Independent work: preparation of a practical work description. | Classes | 1.00 | auditorium | |||||
| 17 | Pedigree analysis. Genetic problem solving, based on types of inheritance. Independent work: preparation of the protocol of the practical lesson. | Classes | 1.00 | auditorium | |||||
| 18 | Multifactorial inheritance type. Analysis of clinical cases. Independent work: preparation of a practical work description. | Classes | 1.00 | auditorium | |||||
| 19 | Variability. Phenotypic and genotypic Variability. Mutations and their types. Changes in chromosome structure and number, their clinical consequences. Analysis of clinical cases. Independent work: preparation of a practical work description. | Classes | 1.00 | auditorium | |||||
| 20 | Colloquium: medical genetics. Final work. | 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 | The main types of birth of signs. Analysis of different birth types. Monogenic birth types. Human traits, examples of congenital anomalies. Multifactorial birth type. Mitochondrial birth type. Importance of genetic pathology in clinical practice. | 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. The role of molecular biology in disease diagnosis. | Classes | 1.00 | auditorium | |||||
| 14 | Molecular basis of heredity. Nucleic acids. DNA replication. Transcription, translation. Genetic code. Clinical case tasks. Preparation of a practical work description. | Classes | 1.00 | auditorium | |||||
| 15 | Genetic problem solving, based on Mendel’s laws of inheritance. Dominant and recessive traits – problem solving. | Classes | 1.00 | auditorium | |||||
| 16 | Blood type genetics. Blood type genotypes and phenotypes, description. Clinical tasks. Independent work: preparation of a practical work description. | Classes | 1.00 | auditorium | |||||
| 17 | Pedigree analysis. Genetic problem solving, based on types of inheritance. Independent work: preparation of the protocol of the practical lesson. | Classes | 1.00 | auditorium | |||||
| 18 | Multifactorial inheritance type. Analysis of clinical cases. Independent work: preparation of a practical work description. | Classes | 1.00 | auditorium | |||||
| 19 | Variability. Phenotypic and genotypic Variability. Mutations and their types. Changes in chromosome structure and number, their clinical consequences. Analysis of clinical cases. Independent work: preparation of a practical work description. | Classes | 1.00 | auditorium | |||||
| 20 | Colloquium: medical genetics. Final work. | Classes | 1.00 | auditorium | |||||
| Assessment | |||||||||
| Unaided Work: | During the course of their studies, students complete ten laboratory works/tasks, submitting protocols for each. Each successful protocol contributes 4% to the cumulative final grade, totaling 40%. At the end of the study course, students are encouraged to fill out a course evaluation questionnaire for better feedback. | ||||||||
| Assessment Criteria: | Students' knowledge is assessed through two cumulative quizzes and a cumulative exam. The cumulative quiz assessment consists of 40% weekly tests on theoretical knowledge and evaluation of practical work descriptions, and 60% for the quiz test results during quiz weeks. At the end of the study course, the evaluation method is a cumulative exam, which is based on the average grade of both cumulative quizzes. If a student is dissatisfied with the cumulative exam grade or has not fulfilled all the requirements for obtaining it, an exam is retaken, consisting of multiple-choice questions. | ||||||||
| 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 | ||||||||
