Ministry of Health of Ukraine Ukrainian Medical Stomatological Academy Approved at the meeting of the Medical Biology department. Protocol № 11, February 3, 2020. Head of the department ___________ S.I. Dubinin Methodical content of lecture № 6 Academic discipline Medical biology Organismic level of life organization. Module №2 Fundamentals of human genetics Human variation as a life characteristic and genetic Topic of lecture phenomenon. Course of study First, second Faculty Stomatological The number of teaching hours: 2 1. Scientific and methodological basis of the topic (substantiation of the actuality of the topic, its importance for future professional activity, data aimed at forming a positive motivation for the topic of the lecture). The study of variability is necessary to understand the evolution of the organic world. Variability provides diversity in the structure and physiological functions of organisms. It is the result of different processes. Some of them occur in hereditary material (genotype), others are limited by phenotype. Knowledge of various forms of variability is of great importance to the physician, because to humans, as a species, there is a large range of variability of morphological, physiological and biochemical characteristics. The study of combinative and mutational variability allows to predict the appearance of offspring with burdened heredity in generations. Knowledge of the material of this topic will be required for the study of human anatomy and physiology, general hygiene, neurology, obstetrics and gynecology, pediatrics, etc. 2. Learning aims of the lecture: to form in students the ideas on the modern scientific level about different forms of variability and their importance in determining the characteristics of a person; to analyze the mechanisms of variability; to prove the value of the topic in general biological specialist training; to learn to solve situational tasks; to determine the meaning of the law of homologous series for medicine. 3. Goals of the future specialist's personality development (educational goals), relevant aspects: to promote the formation of modern scientific ideas about variability, its forms and their significance in determining the characteristics of a person; to develop the understanding of variability as a property of life and genetic phenomenon; to direct students to a conscious and qualitative mastery of knowledge and skills, as a necessary objective requirement of modern specialist training. 4. Interdisciplinary integration. The topic of the lecture is integrated both with the complex of disciplines in medical and biological training (human anatomy, histology, cytology, biochemistry, human physiology, pharmacology), as well as with the disciplines of specialist medical training (hygiene, medical genetics, infectious diseases, childhood diseases, etc.). 5. Plan and organizational structure of the lecture. 1. Variability, its forms and manifestations at the organismal level: phenotypic and genotypic variability. 2. Modifications and norm of reaction. Long modifications. Statistical regularities of modification variability. 3. Combinative variability, its sources. Mutational variability in humans and their phenotypic manifestations. Classification of mutations: genomic, chromosomal aberrations, gene mutations. 4. Natural mutagenesis and induced mutagenesis. Mutagens: physical, chemical, biological. Genetic monitoring. Genetic risk of environmental contamination. The concept of antimutagens and comutagens. 5. The law of homologous series of hereditary variability of hereditary variability, its practical significance. 6. Organizational structure of the lecture: Type of lecture. Means of The main stages of the lecture Time № activation of students. Methodical and their content distribution support materials 1. Preparatory stage. Determination of See points 1 and 2 5 % relevance of the topic, educational goals of the lecture and motivation 2. The main stage. Teaching lecture Introductory lecture. 90% according to the plan: An overview generic lecture with 1. Variability, its forms and elements of the problem. manifestations at the organismal Lecture with the use of level: phenotypic and genotypic visualisation. variability. Visual aids: multimedia software 2. Modifications and norm of reaction. and equipment for it (computer, Statistical regularities of modification projector) variability. 3. Combinative variability, its sources. Mutational variability in humans and their phenotypic manifestations. Classification of mutations: genomic, chromosomal aberrations, gene mutations. 4. Natural mutagenesis and induced mutagenesis. Mutagens: physical, chemical, biological. Genetic monitoring. Genetic risk of environmental contamination. The concept of antimutagens and comutagens. 5. The law of homologous series of hereditary variability, its practical significance. 3. Final stage (lecture summary, general Educational literature: 5 % conclusions). 1. Medical Biology : text-book / Thus, each organism in the process of Bazhora Yu. I., Bylyk R. Ye., development and life retains inherent in Chesnokova M. M. et al. – 2nd the species certain properties that are ed., revised and updated. – controlled by heredity. Vinnytsia : Nova Knyha, 2019. – 448 p. 2. Organismic level of life organisation. Bases of human Answers to possible questions. genetics. Training text-book on 1. What are the patterns of Medical biology (module II) for modification of human variability? students of medical and Modification variability is a form of stomatological faculties / Dubinin non-inheritance variability associated S.I., Ovcharenko O.V., Vatsenko with changes in phenotype due to the A.V. et al. – Poltava, 2014. – influence of external conditions. 78 p. Modification changes in traits are not 3. Lazarev K.L. Medical Biology: inherited, but their rate of response, i.e. Text-book. – Second edition. – the range of variability, is hereditary and Simferopol: IAD CSMU, 2003. – determined by genotype. Modification 592 p. variability, as a rule, is appropriate, 4. Medical biology: The study guide consistent with the conditions of of the practical classes course / existence and adaptable. The occurrence O.V. Romanenko, O.V. of modifications caused by the fact that Golovchenko, M.G. Kravchuk, environmental conditions affect the V.M. Grinkevych. – Edited by enzymatic reactions that occur in the O.V. Romanenko. – K.: body and in some way alter their course. Medicine, 2008. – 304 p. As an example of adaptive 5. Bekish O.-Y.L. Medical biology: modifications, we consider the Textbook for students of higher mechanism of melanin pigment educational establishments. – formation. Four genes located in Vitebsk: VSMU Press, 2003. – different chromosomes are responsible 346 p. for its production. Under the influence 6. Green N.P., Stout G.W., of ultraviolet radiation, specific Taylor D.I. Biological Science. – microRNAs are released from skin cells Cambridge, 1994. (keratinocytes) into the intercellular 7. Kimball, John W. Cell biology. – space. This leads to activation and Addison-Wesley Publishing enhanced biosynthesis of the tyrosinase company, Inc, 1984. enzyme, which catalyzes the oxidation of the tyrosine amino acid and Questions: subsequent formation of melanine. 1. What is variability and what 2. What is the significance of forms of its manifestation at the hereditary variability for humans? organismal level do you know? Combinational variability is a form 2. What are the features of of hereditary variability that arises from phenotypic and genotypic the redistribution of genetic material variability? into descendants. In combinational 3. What are modifications and variability, new gene combinations are norm of reaction? What are the inherited, and the genes do not change. statistical patterns of Homologous and non-homologous DNA modification variability? recombination is the cause of 4. What is combined variability and manifestations of combinational what are its sources? variability. Sources of combinational 5. What are the phenotypic variability are: 1) crossing over; manifestations of mutational 2) independent divergence of variability in humans? homologous chromosomes in meiosis; 6. By what criteria are mutations 3) accidental fusion of gametes during classified? fertilization. Due to the independent and 7. What is natural mutagenesis and simultaneous implementation of these induced mutagenesis? processes, a wide variety of genotypes 8. What are some examples of arises. Homologous recombination is the physical, chemical and biological process of exchanging nucleotide mutagens do you know? sequences between homologous 9. What is genetic monitoring and chromosomes or DNA strands. This for what purpose is it used? type of recombination is used by cells to 10. What are antimutagens and repair DNA damage, the formation of commutagens? new combinations of genes during 11. What is the practical meaning of meiosis, the transfer of mobile genetic the Law of Homologous Series elements, the horizontal transfer of of Hereditary Variability? genes between different cells. Non- homologous recombination is the Tasks: process of exchanging nucleotide to develop the material of the sequences between non-homologous main textbook and manual; chromosomes or DNA strands. An to solve test assignments on the example of such recombination is the topic of the lecture (see handbook accidental insertion of viral or bacterial materials); DNA fragments into the DNA of human to browse internet sites for lecture cells. topic