- •1.1. Overview
- •1.7. For information about the teachers:
- •1.8. Contact Information:
- •2. Program:
- •2.1. Introduction
- •2.2. The purpose of discipline:
- •2.3. Learning objectives:
- •2.4. Learning outcomes:
- •2.5.Prerequisites and Postdetails.
- •2.6. Summary of discipline:
- •2.7. Thematic plan of lectures, practical classes, srps and the siw Thematic plan of lectures
- •The practical classes thematic plan
- •Topical Plan for siwp
- •Thematic plan for independent student work
- •2.8. Tasks for independent students work : Topics for independent work of students:
- •2.9 Recommended literature :
- •In Russian :
- •In Kazakh:
- •In English :
- •2.11. Criteria and assessment rules:
- •The evaluation system of students' knowledge
- •Competence assessment in discipline "Molecular Biology and Medical Genetics," for 1 course students "General Medicine" specialty.
- •2.Check control
- •Presentation
- •Assessments grading scale
- •It is discussed and approved at faculty meeting from April "12" of 2012 y., the protocol No. 15
- •1. Theme: Implementation of heriditary information
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature
- •6. Control questions (feedback):
- •Specialty – general medicine
- •Year 2012
- •Theme: Introduction to Molecular Biology. Molecular Principles of Heredity
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Theme: Gene Molecular Biology
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Evaluation of competence – practical skills
- •Theme: Realization of Hereditary Information. Dna Replication
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Problem
- •Theme: Transcription
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Literature:
- •Control:
- •7.1. Evaluation of competence – knowledge
- •Theme: Regulation of Gene Expression
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •7.1. Evaluation of competence – knowledge
- •Evaluation of competence – practical skills
- •8.1.Control:
- •8.2. Rating of competence skills.
- •Theme: Genetic Apparatus of the Cell
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •7.1. Evaluation of competence – knowledge
- •7.2. Evaluation of competence – practical skills
- •Theme: Mitotic cycle, Mitosis, Meiosis
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Evaluation of competence – practical skills
- •7.2.6. Solution of standard tasks:
- •1. Theme: Heredity. Types of inheritance. Independent monogenic inheritance of characteristics
- •2. Purpose:
- •3. Learning objectives:
- •4. Key questions the theme:
- •6. Literature
- •7. Control:
- •7.1. Assessment of cognitive competences (knowledge):
- •7.2. Assessment of competence skills
- •7.3. Assessment of the skills of self-improvement:
- •1.Theme: Heredity. Types of inheritance. Monogenic traits linked inheritance
- •2. Purpose:
- •3. Learning objectives:
- •4. Key questions the theme:
- •7.1. Assessment of cognitive competences (knowledge):
- •1. Theme: Effects of gene
- •2. Purpose:
- •3. Learning objectives:
- •4. Key questions the theme:
- •6. Literature
- •7. Control:
- •7.1. Assessment of cognitive competences (knowledge)
- •7.2. Assessment of competence skills
- •1. Theme: Cellular mechanisms of ontogenetic development
- •2. Purpose:
- •3.Learning objectives:
- •4. Key questions the theme:
- •6. Literature:
- •7. Control:
- •7.1. Assessment of cognitive competence - knowledge
- •1.Theme: Genetic mechanisms of ontogenetic development
- •2. Purpose:
- •3. Learning objectives:
- •4. Key questions the theme:
- •6. Literature:
- •7. Control:
- •7.1. Assessment of cognitive competence - knowledge
- •7.2. Assessment of competence skills
- •1. Title: Basics of Genetics populyatsioinoy
- •6. Handout: Test questions. 7. Literature:
- •1.Theme: Fundamentals of Ecological Genetics
- •4. Key questions the theme:
- •6. Литература:
- •7. Control:
- •7.1. Assessment of competencies - knowledge.
- •Some environmental disease caused by
- •Air pollution
- •Contamination of drinking water
- •Intestinal infections
- •7.1.6. The decision of situational problems:
- •7.2. Assessment of competence - legal competence.
- •Theme: Fundamentals of Pharmacogenetics
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Evaluation of competence – practical skills
- •4.Osnovnye topic questions:
- •Specialty-general medicine methodology recommendation for independent work teacher-led
- •8. Control:
- •8.1.3. Filling out tables:escribe the types of apoptosis
- •1. Theme: Variability not hereditary and hereditary.
- •3. Problems of training:
- •4. Main questions of a subject:
- •6. Literature:
- •7. Control:
- •7.1. An assessment of competences – knowledge.
- •7.2. An assessment of competences – legal competence.
- •3. Problems of training:
- •4. Main questions of a subject:
- •6. Literature:
- •7. Control:
- •7.1. An assessment of competences – knowledge.
- •3.Learning objectives:
- •5.Key questions the theme:
- •7. References:
- •8. Control:
- •3.Learning objectives:
- •5.Tasks related to:
- •6.Handout material: test-2 version with 10 questions
- •7.References:
- •7.3.Konichev a .S. Sevyastanova g.A. Molecular biology m. 2005 p.N 150-196.351-379.
- •7.4.Teylor d.Grin. N.Staut u.Biology m.2002 part 3 p.N 215-242.
- •8. Control:
- •8.1.1 Quiz on topics.
- •8.1.5.The solution to the problem of restriction of dna.
- •8.1.6. Working with the human genomic databases: problem solving.
- •8.3. Control:
- •1 . Title: Control of landmark forum: "Molecular Biology of the Cell"
- •7. References: The main
- •Theme: Human Hereditary Diseases. Chromosomal Diseases
- •Object:
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Impairment related to different types of human aneuploidy
- •Evaluation of competence – practical skills
- •Theme: Human Hereditary Diseases. MonogenicMendelian Diseases
- •Object:
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Evaluation of competence –communicative skills
- •Solution of situational problems
- •Title: Monogenic nonmendelian human disease
- •Aims: To generate in students the knowledge of nonmendelian monogenic human disease.
- •Learning objectives:
- •Tasks related to:
- •Handout material: test-2 version with 10 questions
- •References:
- •Control:
- •Theme: Polygenic (Multifactor) Human Diseases
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Collection of anamnesis (determine the data that permit to reveal families with increased risk of birth of a child with hereditary pathology)
- •In case of chromosomal diseases In case of genic diseases
- •Title: Modern methods of prevention and treatment genetic diseases
- •Key questions the theme:
- •6. Handout: test questions.
- •7. References:
- •8.Control:
- •8.5.An algorithm preventing hereditary diseases, to determine the indications
- •6. Handout: test questions.
- •7. References:
- •8. Control:
- •1.Theme: Section control on the section "Basis of medical genetics"
- •3.Tasks of teaching:
- •7. References:
- •8. Control:
- •8.2. Rating of competence skills.
- •Title: Monogenic nonmendelian human disease
- •Learning objectives:
- •Tasks related to:
- •Handout material: test-2 version with 10 questions
- •References:
- •Control:
- •6. Handout: test questions.
- •7. References:
- •6. Handout: tests
- •7.Bibliography:
- •8. Control:
- •Title: Modern methods of prevention and treatment genetic diseases
- •Key questions the theme:
- •7. References:
- •8.Control:
- •8.5.An algorithm preventing hereditary diseases, to determine the indications
- •3.Tasks of teaching:
- •5. The main themes:
- •7. References:
- •8. Control:
- •8.2. Rating of competence skills.
- •1. Theme #1. Telomers. Telomerase activity
- •3. The tasks:
- •5. Performance criteria:
- •5. Performance criteria:
- •8. Bibliography:
- •8. Bibliography:
- •9. Check:
- •1. Theme #5. Genomics, proteomics and metabolonomics
- •3. The tasks:
- •5. Performance criteria:
- •8. Bibliography:
- •9. Check:
- •1. Theme #6. Cloning of organisms and cells
- •3. The tasks:
- •5. Performance criteria:
- •8. Bibliography:
- •8. Bibliography:
- •9. Check:
- •1. Theme #9. Molecular and genetic mechanisms of aging
- •3. The tasks:
- •5. Requirements to presentation making up:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •9. Check:
- •1. Theme #13. Human genetic passport
- •3. The tasks:
- •5. Requirements to abstract work design:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •9. Check:
- •Control and measuring means for the assessment of knowledge, skills in molecular biology and medical genetics
- •2012 Year
- •I. Examination questions:
- •II. The test exam questions:
- •Molecular biology
- •Replication
- •II. Molecular Cell Biology
- •Cell Cycle
- •Ontogenezis
- •Mutations
- •Oncogenetics
- •III. Fundamentals of general genetics
- •Ekogenetic
- •Pharmacogenetics
- •IV. Fundamentals of medical genetics
- •The list of questions to assess the practical skills: Molecular biology
- •Genetics
7.2. Assessment of competence - legal competence.
7.2.1. Activities in the field of sanitary and epidemiological RK (Chapter 24, Code of the Republic of Kazakhstan "Nation health and system Health ", 2009).
7.2.2. The legislative framework for the protection of the environment (Environmental Code Republic of Kazakhstan, 2007)
Lesson 19
Theme: Fundamentals of Pharmacogenetics
Object: Form students’ knowledge of the individual character of medicines action depending on peculiarities or patient’s genetic constitution (genotype)
Educational Tasks:
familiarize the students with the concepts of pharmacological genetics, genetic control of medicine’s metabolism;
explain the essence of pharmacogenetics as the science studying the role of genes (genotypes) in formation of response of the patient’s organism to introduction of a medicine and efficiency of its action;
explain the mechanisms of genetic control of different stages of medicine’s metabolism in the patient’s organisms (by example of treatment of patients with tuberculosis with Isoniazid;
demonstrate the role of genetic factors and formation of organism’s response to intake of medicinal preparations by example of some blood system hereditary diseases (methemoglobinemia, hemolytic anemia), liver (porphyria), etc.;
teach students to use the knowledge received in their practical activity, namely, prescribe medicaments with taking into account of the patient’s genotype;
familiarize students with the legal requirements to safety of medicinal preparations.
Principal Questions of the Theme:
Significance of pharmacogenetics in modern medicine and pharmacy
Genetic control of metabolism of medicinal preparations
Hereditary diseases and states provoked by intake of medicinal preparations
New possibilities of personalization of use of medicines in practice
Methods of Teaching: combined method of education (conversation, solution of situation problems)
Literature:
Basic:
Bochkov N.P. Clinical Genetics. M., 2006, pp. 309-322.
Bochkov N.P. Pharmacogenetics in Paediatrics. Paediatrics. No 3, 2004, pp. 4-7.
Ginter Y.K. Medical Genetics, M., 2003, pp. 340-348.
Chshipkov V.P., Krivosheina G.N. General and Medical Genetics. M., 2003, pp. 211-216.
Additional:
6.1. Gavrilova S.I. Pharmacogenetic Approaches to Therapy of Alzheimer’s disease. Bulletin of the RAMS, № 9-10. 2006, pp. 30-33.
6.2. Lilin Y.T. et al. Genetics for Physicians. M., 1999, pp. 176-193.
6.3. Lyakhovich V.V. et al. Pharmacogenetics and Modern Medicine.Bulletin of the RAMS, № 10.2004, pp. 40-45.
6.4. Fogel F., Motulski A. Human Genetics.V 2, M.,1990, pp. 108-115.
Molecular Biology of the Cell.V.1. M., 1994, pp.3-15.
Control:
Evaluation of competence – knowledge
Interrogation on questions of the theme
Test control – 2 variants, 10 questions each
Filling in the table Individual Sensitivity of the Human Organism to Action of Medicines in Case of Genetic Impairments.
Pos. |
Character of pharmacologic action of medicines in case of genetic impairments |
Impairment of ferment systems |
Type of inheritance |
1 |
Ditilin (for muscle relaxation) - respiratory arrest for 1 hour and more
|
|
|
2 |
Solution of oxygen peroxide for wound treatment is not efficient
|
|
|
3 |
Primaquine – hemolysis of erythrocytes
|
|
|
4 |
Absence of the bitter taste of phenylthiocarbamide
|
|
|
5 |
Isoniazid
|
|
|
Filling in the table Response of the Organism for Medicinal Preparations
Response of the organisms for medicinal preparations |
Medicinal preparation |
Ferment insufficiency |
Description |
Increased sensitivity |
|
|
|
Tolerance |
|
|
|
Paradoxality |
|
|
|
Solution of situation problems:
Match ferment impairments related to the following clinic situations:
Occurrence of hemolytic anemia after intake of Primaquine;
Long-term respiration arrest after intake of Ditilin;
A patient with lung tuberculosis has toxic reactions from use of Isoniazid
About 40% of Europeans do not fill bitter taste of phenylthiocarbamide
1 – anomalousacetyltransferase
2 – catalase deficit
3 – deficit of glucose-6-phasphatedehydrogenase
4 – anomalous pseudo cholinesterase
5 –tyrosinase deficit
Acatalasemia was discovered by otolaryngologist Takagara by accident during treatment with hydrogen peroxide of mucous membranes of the nasopharynx and mouth of a Japanese girl. During irrigation of the mucous membraneswith hydrogen peroxide, the blood turned brown. Later it was established that in case of acatalasemia ferment catalase is absent in blood of patients. Explain, why treatment of the wound with hydrogen peroxide is not efficient, i.e. action of the preparation is not seen, and what genotype the girl has.
In surgery for muscle relaxation, preparation Ditilin is used. Normally it arrests respiration (apnoea) for 2-3 minutes. In some patients after injection of Ditilin apnoea lasts for 1 hour and more. Such patients can be saved only with artificial lung ventilation for this time. Explain, deficit of what ferment and what type of inheritance of sensitivity to Ditilin cause such atypical reaction.