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RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 044-30/15( ) Pp.1 of 22 «Approved» Pro-rector for educational and methodical work, MD M.U. Anartayeva ________________________ «____»______________2016. STUDY PROGRAMME Course: “Molecular biology and Medical genetics” Course code: MBMG 1201 Specialty: 051301 “General medicine” Number of academic hours: 90 including: lectures – 30 h, practical classes– 60 h, SIW - 54 h. Year and term: 1 - II Shymkent – 2016. RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 044-30/15( ) Pp.2 of 22 The Study Programme has been compiled by the department of Biochemistry, Biology and Microbiology on the basis of SES RK and a model curriculum, approved with modifications, agreed, in resolution Government RK №1080 from 13.05.2016 for the specialty 051301 “General Medicine”. The Study Programme was rediscussed at Departmental discussion held on “___” _______ 2016, Record of meeting № ____. Department Head, Candidate of Biological Sciences ________ A.A. Burabayev The Study Programme was rediscussed by the Cyclic Methodic Board of pharmaceutical disciplines dated “__” _______2016, Record of meeting № ____ Chairperson: ________ A.K. Patsayev The Study Programme was discussed by Methodic Council of SKSPhA dated “___” __________ 2016, Record of meeting № ____. RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 044-30/15( ) Pp.3 of 22 2. The programme 2.1 Introduction Molecular biology and Medical genetics is one of the fundamental disciplines of basic medical education, it studies the structure, properties, functions of informational macromolecules - proteins and nucleic acids, template-directed synthesis, organization and functioning of genetic material, molecular basis, etiology and development of hereditary diseases, their diagnosis, prevention and treatment. Achievements and discoveries of Biology are of great importance for the development and progress of biomedical and clinical disciplines. Study of Medical genetics provides understanding of a molecular basis of cell structure and functioning, control action of genes, template-directed synthesis, signal transduction mechanisms. In turn, it is necessary for understanding both normal life processes and their disorders, determining etiology of many diseases, including hereditary, associated with gene- and -chromosome mutations, that is the essence of Medical genetics. 2.2 Learning goals of the course: mastering modern knowledge about the basic molecular and genetic mechanisms of the body’s functioning and their applying in clinical practice. 2.3 Learning objectives: To provide a systematic understanding of life levels’ organization and fundamental properties of living. To provide understanding of the role of molecular - genetic, cellular functioning mechanisms in health and disease for effective diagnosis, prevention and treatment of common diseases, using principles of molecular genetic methods and technologies in medicine. To study the structure, functioning and control action of hereditary material at the genomic, chromosomal and genetic (molecular) levels. To study the modern genetic engineering technologies used in diagnosis of diseases. To study the causes and mechanisms of autogenous variation and its role in human congenital defect. To train the ability to identify key features of congenital defect in diagnosis and prevention of common hereditary diseases in humans. To study the basic principles of molecular genetic methods and technologies in medicine. To teach students to use the acquired knowledge in practice. To provide understanding of ethical and legal standards of using molecular genetic research achievements in medicine. To teach working with scientific literature and electronic biomedical databases. RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 2.4 Final learning outcomes: Dublin descriptors Competences of the specialty, developed at SKSPhA А To demonstrate knowledge and understanding in the field of study including elements of the most advanced knowledge in this field Learning outcomes of the course 044-30/15( ) Pp.4 of 22 Learning outcomes according to the concept (SES) Competence in the A student understands the Р1 field of natural difference between molecular sciences genetic and cellular levels of life organization; A student knows of structural Р1 and functional organization of the hereditary material of genic, chromosomal and genomic levels; A student understands the basic Р1 mechanisms for maintaining the stability of genetic and cellular homeostasis; he is able to focus on issues of biochemical unity of the organic world, molecular basis of heredity, variation and methods of genetic analysis A student knows of the structure Р1 and function of informational macromolecules, transfer and expression mechanisms of genetic information A student knows of biological Р1 membranes’ role in providing cell cooperation, mechanisms of membrane transport and information in normal and pathological conditions; A student knows of the causes Р1 and mechanisms of gene and chromosomal hereditary human diseases, principles of diagnosis, treatment and prevention; A student understands the causes Р1 and mechanisms of genetic RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” Competence of entrepreneurship variation and their role in human hereditary diseases: congenital malformations and basic principles of their prevention; A student understands the mechanisms of harmful environmental factors’ influence on the human body at the molecular - genetic level; A student understands the basic principles of using moleculargenetic methods and technologies in medicine; A student demonstrates understanding of the basic laws and modern achievements of genetics, proteomics; A student is able to apply modern experimental work methods with biological objects in laboratory conditions; 044-30/15( ) Pp.5 of 22 Р1 Р1 Р1 Р2 A student is able to use some Р2 molecular - genetic methods and technologies in medicine; A student is able and ready to Р19 use regulatory documents adopted in public health (international and national standards, terminology, international system of units (SI), current international classifications such as ICD -10), etc. A student is able to use a special Р27 reference source, molecularbiological and genetic terminology, electronic genetic databases and etc. RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” Competence “Health lawyer” 044-30/15( ) Pp.6 of 22 A student is able to use the Р27 knowledge of molecular -genetic processes to assess health formation factors and explaining the protective and adaptive processes of regulation and selfregulation in health and disease; A student is able to organize Р27 health-building measures to promote a healthy lifestyle, taking into account risk factors, consulting healthy and sick adults and adolescents on healthy eating. To recognize the basic, the most common hereditary human diseases; A student is ready to organize Р53 his workplace subjected to the requirements of work safety, labor health, infection and fire safety; В To apply this knowledge and understanding in a professional manner Competence “Communication skills” (cultural competence, critical thinking, creativity, ability to work in a team, foreign language competence). A student is able to establish a connection of theoretical contributions and concepts of Molecular biology with practice; A student is ready to explain the mechanisms and principles of the basic molecular - genetic process regulation (replication, transcription, translation); A student is able to explain the structure of proteins, proteinnucleic interactions; A student is able to describe the mechanisms of cell cycle regulation, carcinogenesis and Р3 Р3 Р3 Р3 RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” С To formulate arguments and solve problems in the field of study programmed cell death; A student is able to use the genealogical method for the prognostication of human hereditary diseases and to make up a genealogy for prognosticating manifestations of hereditary diseases; A student is able to differentiate the different types of chromosomes and to recognize normal and abnormal human karyotypes; A student is able and ready to implement the ethical and deontological aspects of medical practice communicating with colleagues, nurses and medical attendants, adults and adolescents, their parents and relatives; A student is ready to analyze human karyotypes in health and disease to prevent hereditary diseases; A student is able to prognosticate physiological and pathological characters in the offspring based on genealogy analysis and a karyotype; Competence in the A student understands the field of natural essence and social importance of sciences his future profession and shows his sustainable interest; A student shows ecological literacy and uses the basic knowledge of Biology and life situations, understands social importance and is able to predict the consequences of his professional activity, is ready to bear responsibility for his 044-30/15( ) Pp.7 of 22 Р3 Р4 Р3 Р3 Р8 Р11 Р11 RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” D To collect and interpret information to make judgments taking into account social, ethical and scientific considerations. Competence “Communication skills” (cultural competence, critical thinking, creativity, ability to work in a team, foreign language competence). decisions; A student is able and ready to analyze socially significant problems and processes, to use methods of the humanities, natural sciences, medicobiological and clinical sciences in various kinds of professional and social activity; A student is able to identify the essence of natural science problems arising in the course of his professional activity, is ready to use relevant biological knowledge for their solution; A student follows ethical and legal standards concerning other people and nature (principles of biotics), he has a clear value system concerning nature conservation and protection of human rights and health; A student is able to use interactive methods of data collection; A student is good at cognitive activity and is able to work independently with different sources of information; A student is able and ready to study scientific, medical and paramedical information, national and international experience on research subject; A student is able and ready to participate in the development of modern theoretical and experimental research methods to study scientific problem, in work organization on practical application and implementation of research results; 044-30/15( ) Pp.8 of 22 Р11 Р11 Р6 Р10 Р10 Р10 Р11 RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” Е To give information, ideas, problems and solutions, both to specialists and non-specialists The ability to continue further independent learning Competence “Communication skills” (cultural competence, critical thinking, creativity, ability to work in a team, foreign language competence). A student is able and ready to form a systematic approach to medical information analysis, taking into account the principles of evidence-based medicine based on the search for solutions with the use of theoretical knowledge and practical skills to improve his professional activity; A student is able to gather information about family diseases to make up a genealogic tree to prevent hereditary diseases; A student is able to recognize patients’ basic pathological symptoms and syndromes of diseases using basic knowledge of medical and biological disciplines; A student is able and ready to hold preventive measures for the prevention of the most common hereditary and parasitic diseases; A student is able to make up a detailed plan - abstracts, notes, reports, charts and tables, to be proficient in subject language; A student is able to explain scientifically and clearly the laws of heredity and variation at the molecular level; A student knows the peculiarities of national and universal culture; A student develops and implements perspective lines of intellectual, cultural, moral, physical and professional selfdevelopment and selfimprovement; A student critically analyzes, 044-30/15( ) Pp.9 of 22 Р9 Р27 Р3 Р27 Р3 Р9 Р9 Р9 Р12 RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 044-30/15( ) Pp.10 of 22 overestimates his professional and social experience, is ready, if necessary, to change his professional activity profile. 2.5 Pre-requisites: Secondary-school General Biology, Chemistry, Medical Biophysics. 2.6 Post-requisites: Biochemistry, Histology, Microbiology, Physiology, Physiopathilogy, Internal diseases, Childhood diseases, Neurology, Obstetrics and Gynecology. 2.7 Thematic plan: themes, types of classes and duration of every class (lectures, practical classes, students’ individual work). № pp 1 2 3 4 5 Thematic plan of lectures Theme of lecture Lecture Style 1 credit Introduction to Molecular biology and Medical genetics. Informational macromolecules: cells - proteins. The structure and function of proteins. Primary, secondary, tertiary and quaternary structures. Folding, folding factors. Nucleic acids: classification, structure, functions. DNA, RNA. Types of RNA. The structure and function. Biosynthesis of nucleic acids. Replication, mechanisms and replication factors. Gene expression. Transcription, mechanisms and transcription factors. Splicing and processing. Modification of nucleotides. Gene expression. Protein biosynthesis. Genetic code and its properties. The mechanisms of protein biosynthesis: initiation, elongation, termination. Modification of proteins. Regulation of gene expression in prokaryotes and eukaryotes. The theory Lecture duration in hours Introductory lecture 2 Presentation lecture 2 Presentation lecture 2 Presentation lecture 2 Presentation lecture 2 RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” of operon. Structure of inducible and repressible operons, medical significance. TOTAL: 2 credit 6 Genetic cell apparatus. The gene, its classification, structure and properties. Structure of prokaryotic and eukaryotic genes. Clustered genes. Genome, DNA parts, organization of human genome. Chromosomes, morphology, classification. Human karyotype. 7 Dyscrasia and its manifestations in human pathology. Mutations: genic, chromosomal, genomic. Pathological effects of mutation: uniparental disomy, imprinting. Mutagenesis, mutagenic agents. DNA repair, types, enzyme systems. Biological antimutational cells barriers. 8 Molecular - genetic research methods and their usage in medicine. Genomic technologies in medicine. Genetic engineering technologies and their medical significance. Cloning. Transgenic organisms. 9 Molecular cell biology. Molecular structure and functions of the main cell components. Structure and function of biological membranes. Types and functions of membrane proteins and lipids. 10 Transport of substances and signals through biological membranes. Cell-cell contacts, cell-cell adhesion. Medical significance. Characteristics of signaling systems. TOTAL: 3 credit 11 Cell cycle. Molecular-genetic mechanisms of its regulation. Cyclines and maturation-promoting factor (MPF) 044-30/15( ) Pp.11 of 22 10 h Presentation lecture 2 Presentation lecture 2 Presentation lecture 2 Presentation lecture 2 Presentation lecture 2 10 h Presentation lecture 2 RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 12 13 14 15 № p p mitosis- stimulating factor (MSF). Cell cycle restriction points. Regular role of proteins P-53. Apoptosis. Fundamentals of General and Medical genetics. Factors of discrete inheritance of characters and genetic linkage. Heredity and inheritance. Types of inheritance: monogenic, polygenic and linkage. Cytoplasmic inheritance. Research methods of human genetics. Hereditary diseases: monogenic, polygenic or multifactorial diseases. The role of heredity and environment in disease contraction. Genocopies and phenocopies. Chromosomal diseases and their place in general human pathology. Electronic databases of V.A. MeKusick inherited diseases. Methods of laboratory diagnostics, prevention of hereditary diseases. Medical-genetic counseling, genetic screening, prenatal diagnostics. Gene diagnostics and gene therapy. Basics of population genetics. Genetic structure of human populations. Actions of elementary evolutionary factors on the genetic structure of populations. Hardy-Weinberg law. Genetic polymorphism. Genetic burden and its medical and social significance. TOTAL (Credit): TOTAL (Module): 044-30/15( ) Pp.12 of 22 Presentation lecture 2 Summarizing lecture 2 Presentation lecture 2 Presentation lecture 2 Thematic plan of practical classes 2nd term Theme of practical class Activities 10 30 Class duration in hours RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 1 Structure and function of informational macromolecules: proteins and DNA. Primary, secondary, tertiary structure of proteins. Folding and folding factors. Space structure of DNA. Mitochondrial DNA. 2 Template-directed synthesis of nucleic acids. DNA replication. Characteristics of replicative complex. Synthesis characteristics of leading and lagging strands. Underreplication of telomeres. Telomerase. Expression of genetic material. DNA transcription: Mechanisms of DNA transcription. Splicing and processing. 3 4 5 Protein biosynthesis. Genetic code and its properties. RNA structure and functions. Types (mRNA, tRNA, rRNA, small nu RNA, ribozymes). The structure and functions of ribosome. Biosynthesis stages - initiation, elongation, termination. Modification of aminoacids. Regulation of gene expression in prokaryotes and eukaryotes. Operon theory. Cell hereditary apparatus. Gene level: classification, structure and properties of prokaryotes and eukaryotes. Genome. The organization of the genome of prokaryotes, eukaryotes, viruses, 044-30/15( ) Pp.13 of 22 Lab class. Discussion. 4 Educatory training in the process of studying the structure of macromolecules, revision and tasks for knowledge assessment. Working with multimedia databases. Lab class. Discussion. 4 Educatory training on the simulation process of DNA replication, revision and tasks for knowledge assessment. Working with multimedia databases. Lab class. Discussion. 4 Educatory training on the simulation process of DNA transcription, revision and tasks for knowledge assessment. Working with multimedia databases. Lab class. Discussion. 4 Educatory training on the simulation process of protein biosynthesis, revision and tasks for knowledge assessment. Working with multimedia databases. Lab class. Discussion. Educatory training in the process of studying of genetic apparatus structure, revision and tasks for knowledge assessment. Working with multimedia databases. 4 RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” mitochondria. Human genome. Morphology and types of chromosomes. Karyotype. Human karyotype in health and disease, classification. TOTAL: 2 credit mutations. Lab class. Discussion. 6 Dyscrasia Classification of genetic, Educatory training on the chromosomal and genomic simulation process of mutations. A single nucleotide mutations and consequences polymorphism and its analysis, revision and tasks for significance in medicine. knowledge assessment. Mutations in human pathology. Working with multimedia Mutagenesis and mutagenic databases. factors. 7 Midterm examination on the Testing. section: “Molecular basis of heredity” Lab class. Discussion. Hereditary human Educatory training on the Diseases: monogenic, polygenic simulation process of (multifactorial), chromosome mutations and consequences diseases analysis, revision and tasks for knowledge assessment. Working with multimedia databases. 8 Molecular structure and function Lab class. Educatory training of bioplast and biomembranes. in the process of studying of molecular structure and function of bioplast and biomembranes, revision and tasks for knowledge assessment. Working with multimedia databases. 9 Transport of substances through Lab class. Educatory training the membranes: passive and on the simulation process of active, vesicular. substances’ transport through The structure and operation of the membranes, revision and ion channels and ionic pumps. tasks for knowledge assessment. Working with multimedia databases. 044-30/15( ) Pp.14 of 22 10 h 4 4 4 4 RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 10 Cell cooperation, contacts and adhesion. Territorial matrix. Medical significance. Signaling in the cell. Characteristics of signaling molecules. Membranebound and intracellular receptors. The main stages of signaling. Medical significance. TOTAL: Lab class. Discussion, revision and tasks for knowledge assessment. Working with multimedia databases. 044-30/15( ) Pp.15 of 22 4 10 h 3 credit 11 Cell cycle and its regulation. Cycling states. Cyclins and maturation-promoting factor (MPF). Mitosis-stimulating factor (MSF). Apoptosis and oncogenesis. 12 Fundamentals of General Genetics: types and laws of inheritance: discrete, genetic linkage and sex-linked inheritance. 13 Genotype and phenotype. The impact of environment and heredity in phenotype formation. Cell-cell interaction. Methods for the study of human genetics. Genealogical method. 14 Midterm examination on the section: “Molecular structure and cell functions”, “General and Medical genetics”. 15 Methods of prenatal diagnosis of hereditary diseases: noninvasive and invasive. Prevention of human congenital defect. Medical and genetic counseling. Fundamentals of human population genetics. HardyWeinberg law. Lab class. Educatory training on the simulation process of cell cycle regulation, revision and tasks for knowledge assessment. Working with multimedia databases. Lab class. Educatory training in the process of genetic problems’ solution, revision and tasks for knowledge assessment, recitation. Lab class. Educatory training in the process of genetic problems’ solution, revision and tasks for knowledge assessment, recitation. 4 Testing. 4 Lab class. Educatory training in the process of mastering prenatal diagnosis methods of hereditary diseases. Revision and tasks for knowledge assessment. Working with multimedia databases. 4 4 4 RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 044-30/15( ) Pp.16 of 22 10 h 60 TOTAL (Credit): TOTAL(Credit): Thematic plan of students’ individual work № 1 2 3 Themes Performance Method 1 credit 1. The Life’s level organization. Fundamental functions of living things. Reproduction. Types of reproduction. 2. Biology of germ cells. Meiosis. Gametogenesis. Fertilization. Parthenogenesis. 3. Ontogenesis. Antenatal and postembryonic developmental periods. Ontogenesis’s regulation mechanisms. Regeneration and transplantation. 4. Cell cycle. Cell division. Mitosis. 5. Molecular structure of the cell and diseases, arising during dysfunction of them. 6. Human karyotype. Classification of karyotype, genomic mapping of chromosome. Anatomy of healthy and pathological karyotype. 7. DNA sequencing: unique and repetitive sequence. Tandem repeats: satellite DNA: typical ( short tandem, α-,β-,γ- repeats, etc.) and untypical (mini-, micro-, and megasatellites). Tandem cluster genes. 8. DNA sequencing. Repeated sequence (DNA): SINE (Short Interspersed Nuclear Elements) and LINE (Long Interspersed Nuclear Elements) – sequence and etc. Mobile genetic elements Presentation, library-research paper, glossary, booklet, report Presentation, library-research paper, glossary, booklet, report Presentation, library-research paper, glossary, booklet, report. Revision (with deadlines) Number of hours 3 nd The 2 week The 3rd week 3 The 4th week 3 RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 044-30/15( ) Pp.17 of 22 (MGE). Inverted repeats – polindromes. 4 5 10. Genomical organisation level of genetic material. Genome of eukaryote. Genome of human. Genome of cytoplasmic DNA. 11. Features of human genome anatomy. Pathology of human genome anatony. 12. Virus genome, bacteria, and mitochondrial DNA. DNAcontaining and RNA – containing virus. Presentation, library-research paper, glossary, booklet, report 13. Mutations and mutagenesis. Antimutagenesis. Molecular mechanism of reparation of genetic material 14. Molecular - genetic Presentation, mechanisms of aging. Telomeres. library-research Telomerase activity. paper, glossary, 15. Genetic polymorphism – single booklet, report nucleotide polymorphism (SNP), Restriction fragment length polymorphism, variable number tandem repeat and etc. TOTAL: The 5th week 3 The 6th week 3 15 2 credit 1 2 1. Pharmacogenetics. Reaction of human hereditary apparatus to drug administration. 2. Basics of human ecogenetics. The concept of biotransformation. Stages of xenobiotics biotransformation. Oxidative stress. Biotransformation genes. 3. Genetic engineering. Methods of genetic engineering. Technology of reconbinant DNA: hybridization of nucleic acid, DNA cloning (DNA- Presentation, library-research paper, glossary, booklet, report The 7th week 3 Presentation, library-research paper, glossary, booklet, report The 8th week 3 RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 3 4 5 library), sequencing of clonal DNA. Vectors. Plasmids. Transgenesis 4. Fundamentals of pharmaceutical biotechnologies. Biotechnology of antibiotics, vaccines, monoclonal antibodies, and etc. 5. The success of genetic engineering and transitioning to the medicine: genetic therapy, transitional therapy. 6. Nanobiotechnology. Pharmaceutical biotechnology. Discussion of problems at G-global communicative platform “Biotechnology in agroindustrial complex of Kazakhstan”. 7. Modern methods of genomic technologies in the diagnosis of diseases. 8. Methods of DNA studies. Direct and indirect methods of DNA studies – diagnostics. DNA – fingerprinting. 9. Cytogenetics and moleculargentic (FICH) genomics methods. Methods of gene mapping. Genetic and physical chromosome mapping. ‘Chromosome walking’ or primer walking, shotgun sequencing; extraction and study of coupling genetic markers 10. Polymerase chain reaction (PCR). Southern hybridization blotting TOTAL: Presentation, library-research paper, glossary, booklet, report Visual aids relating to Gglobal platform (viewing, comments together with a teacher) Presentation, library-research paper, glossary, booklet, report The 9th week 3 3 The 10th week 3 Presentation, library-research paper, glossary, booklet, report 3 credit 044-30/15( ) Pp.18 of 22 The 11th week 15 RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 1 2 3 4 5 1. Transport of substances through the membrane: transmembrane transport of low- molecular substances. 2. Transport of substances through the membrane: vesicular transport. 3. Cell transplantation, “stem cells”. Modern development conditions. 4. Homeostasis. The concept of homeostasis. Mechanisms of homeostasis control. Types of homeostasis. 5. Monogenic diseases with a nontraditional type of inheritance: maternal inheritance, genetic imprinting, genomic imprinting, expansion of trinucleotide repeats. Definition, causes, classification, clinical features, types of inheritance. 6. Monogenic diseases that occur due to the changes in protein structure. 7. Chromosome diseases. Etiology and classification. Manifestations of chromosomal abnormalities in ontogenesis. 8. Polygenic diseases. Defining, causes, classifications, and clinical features. 9. Basic treatment principles of hereditary diseases. Gene therapy and translational therapy. 10. Prenatal diagnosis. Medical genetic consulting. Genetic basis of hereditary diseases. 11. Basics of population genetics. Genetic diversity of human populations. 12. Basics of population genetics. Ecological structure of population Presentation, library-research paper, glossary, booklet, report Presentation, library-research paper, glossary, booklet, report Presentation, library-research paper, glossary, booklet, report Presentation, library-research paper, glossary, booklet, report Presentation, library-research paper, glossary, booklet, report 044-30/15( ) Pp.19 of 22 3 The 12th week 3 The 13th week 3 The 14th week 3 The 15th week. 3 The 16th week RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 13. Basics of population genetics. Genetic diversity of human populations. Total: TOTAL: 044-30/15( ) Pp.20 of 22 15 45 2.8 Methods of teaching and learning: Lectures: summarizing and presentation Practical classes: solution of genetic and situational problems, working with multimedia databases, discussions, situation simulation. Students’ individual work: working with literature, electronic databases and computer teaching programs, solution of situational problems; making up glossaries, test tasks’ solution, making up and defense of library-research papers. 2.9 Assessment methods of students’ knowledge and skills: testing, solution of genetic and situational problems, cards’ filling, oral questioning, situation simulation. Types and forms of students’ progress control: Intermediate control is a systematic revision of students’ progress, conducted by the teacher during practical classes in accordance with the syllabus of a discipline and class timetable, it includes the assessment of all class types (class exercises, SIW). The following forms of knowledge control are used in the process of intermediate control: testing, solution of situational problems, solution of genetic problems, cards’ filling. Intermediate control is conducted according to class timetable during practical classes. Midterm examination is conducted according to class timetable at 8th and 17th weeks of theoretical training. It is a colloquium with testing, oral questioning, solution of situational and genetic problems, cards’ filling. Final examination: testing. 2.10. Bibliography: Supplementary: In English: 1. Grieghton T.E. Molecular biology. (Electronic resource): scientific publication/ Grieghton T.E. Electronic alphanumeric data (69: Mb). – B.m.: B.i., 2002. 2. Lodish H. Molecular cell biology. (Electronic resource): glossary/Lodish H.Glossary. - Electronic alphanumeric data (11.1 Mb). – B.m.: B.i., 2003. 3. Batson J.D. Molecular biology of the gene. (Electronic resource): scientific publication/ 4. Batson J.D.- Electronic alphanumeric data (30.2 Mb). – B.m.: B.i., 2004. 5. Lodish H. Molecular cell ( Electronic resource): scientific publication / Lodish H.а. Electronic alphanumeric data(10. Mb). – B.m.: B.i., 2004 RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 044-30/15( ) Pp.21 of 22 2.11 Appendix: Form № 1 Approval memorandum of Study Programme with other courses of study for 2016 - 2017 academic years. Courses of Proposals for changes in Number of records and dates of Approval proportions of material, order meetings of involved department of presentation, etc. Information macromolecules: Record of meeting №____ « » Post-requisites: cells - proteins and nucleic acids: _____ Biochemistry structure, functions. Biosynthesis mechanisms of nucleic acids and Department Head, Candidate of proteins. Biological Sciences ____________A.A. Burabayev Hereditary apparatus of viruses Record of meeting №____ « » Microbiology and bacteria. Transfer of genetic _____ information. Mechanisms of template-directed synthesis. Department Head, Candidate of Biological Sciences ____________A.A. Burabayev Molecular structure and Record of meeting №____ « » Pathological functions of bioplasts in _____ physiology pathological condition. The concept of apoptosis. Theory of Department Head,Candidate of ageing. Carcinogenesis. Medical Sciences, Ass. Prof.:_________ L.D. Zholymbekova Molecular structure and Record of meeting №____ « » Physiology functions of bioplasts in health _____ and disease. Signaling mechanisms of cell. Molecular Department Head, Candidate of mechanisms of substances’ Medical Sciences, Ass. transport through the membranes. Prof.:_________ L.D. Zholymbekova Molecular structure of cell and Record of meeting №____ « » Histology cell membranes. Molecular _____ mechanisms of substances’ transport through the membranes. Department Head, Candidate of Cell cooperation, contacts and Medical Sciences, Ass. adhesion. Territorial matrix. Prof.:_________ L.D. Zholymbekova Record of meeting №____ « » Internal diseases Molecular mechanisms of lysosomal, mitochondrial _____ diseases, hereditary metabolic RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” diseases. Childhood diseases Pharmacology Neurology Obstetrics and Gynecology Molecular mechanisms of lysosomal, mitochondrial diseases, hereditary metabolic diseases. Molecular structure and functions of the main cell components. Structure and functions of biomembranes. Transport of substances and signals through biomembrane. Intercellular structure, cell-cell adhesion. Molecular and cellular mechanisms of hereditary diseases. Genetic mechanisms of individual development and their defects. Theory of differential gene expression as the basis of morphogenesis. Teratogenesis. Congenital malformations. 044-30/15( ) Pp.22 of 22 Department Head, Candidate of Medical Sciences, Prof.. ___________ E.K. Bekmurzayeva Record of meeting №____ « » _____ Department Head, Doctor of Medicine:_______T.A. Maymakov Record of meeting №____ « _____ » Department Head, Doctor of Medicine, Prof.а.е.________ Kerimbaeva Z.A. Record of meeting №____ « _____ Department Head, Doctor of Medicine, Prof._______G.A. Duszhanova Record of meeting №____ « _____ Department Head, Candidate of Medical Sciences, docent___________Yugay Т.V. » » RSE on the basis of ECR “South – Kazakhstan State Pharmaceutical Academy” MH SD RK The Department of Biochemistry, Biology and Microbiology Study programme for the course “Molecular biology and Medical genetics” 044-30/15( ) Pp.23 of 22 Form №2 Amendments to the Study Programme for 2016-2017 academic years. The Study Programme for the course (section) _________________________ is amended as follows ______________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ____________________________________________________________________ ________ The Study Programme was considered and approved at a departmental meeting on «_____»_____________________2016. Record of meeting №______ Department Head of Biochemistry, Biology and Microbiology, Candidate of Biological Sciences A.A. Burabayev