- •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
Genetics
1. Define the characteristics of human Mendelian and characterize the types of inheritance
2. Show, identify and characterize the allelic genes, allelic forms of interaction between genes.
3. Show and describe multiple alleles in the sample of wool dyeing rabbits and write their genotypes and phenotypes.
4. Show, identify and characterize genes and nonallelic forms of interaction.
5. Show and describe multiple alleles in the sample of blood groups of ABO system.
6. Describe and demonstrate the phenotypic manifestation of gene action in the form of penetrance, expressivity, pleiotropy.
7. Describe the genetics (genes, genotypes) blood groups ABO system of
8. Characterize and autosomal sex-linked inheritance of characteristics
9. Show and describe the independent inheritance of genes (features) in the crossing of two individuals digeterozigotes
10. Show and describe the linked inheritance of genes (features) in the crossing of two individuals digeterozigotes
11. Show and describe analyzing cross digeterozigote individuals with independent and linked inheritance of genes (features)
12. Show and explain the classification of congenital malformations, for reasons of prevalence and teratogenic effects of time factors
13. Give a mathematical expression and explain the essence of the law of Hardy-Weinberg
14. Identify the demographics and explain their impact on the change in the genetic structure of populations
15. List the basic evolutionary processes and explain their impact on the change in the genetic structure of populations
16. To form the concept of genetic load of populations, explain the reasons for its occurrence and clinical significance
17. List the main types of trisomies in humans and explain the mechanisms of their occurrence
18. List the main types of gonosomic syndromes and explain the mechanisms of their occurrence
19. List the major types of mutations that explain the mechanisms of their formation and clinical signs of Down's syndrome
20. Describe the type of mutation, the mechanism of karyotype and main clinical features of patients with Patau syndrome
21. Describe the type of mutation, the mechanism of karyotype and main clinical features of patients with the syndrome of Edwards
22. Describe the type of mutation, the mechanism of karyotype and main clinical features of patients with Turner's syndrome
23. Describe the type of mutation, the mechanism of karyotype and main clinical features of patients with Klinefelter's syndrome
24. List and describe the main methods of diagnosis of hereditary diseases
25. To characterize the clinical and genealogical method, its stages and to determine the value of the hereditary nature of the disease
26. Describe the direct and indirect DNA diagnostic methods and their implications for the diagnosis of hereditary diseases
27. List and describe invasive methods of prenatal diagnosis of genetic diseases
28. Describe the non-invasive and before implantation methods of prenatal diagnosis of genetic diseases
29. List and describe the main characters used in the preparation of the family pedigree
30. Define the genetic risk, to characterize its nature and calculation of the theoretical and empirical risk
31. List and explain the indications for genetic counseling
32. Describe the types of genetic counseling (prospective and retrospective), the essence of each and their differences
33. List and describe the main methods of preventing hereditary diseases.
34. Describe the nature, clinical significance and indications for genetic screening: the mass and selective.
35. Construct a family pedigree to determine the genotypes of pedigree members, inheritance, and to calculate the genetic risk of having a sick child in a family where the father and mother are healthy, two boys are sick, aunt and grandfather on the paternal side of children are sick. Penetrance genes - 80%. All patients were heterozygous for the mutant gene
36. Build a family tree of the family, determine the genotypes of all members of the lineage, inheritance, and to calculate the genetic risk of having a sick child in a family where the parents are healthy consanguine marriage (first cousins siblings), first pregnancy ended in miscarriage, stillbirth, second (sex unknown), the third - birth of a sick girl.
37. Build a family tree of the family, determine the genotypes of all members of the lineage, inheritance, and to calculate the genetic risk of having a patient in a family where the parents are healthy, healthy daughter - the bearer of the mutant gene, and two sons are sick.
38. Build a family tree of the family, determine the genotypes of pedigree members, inheritance, and to calculate the genetic risk of having a patient in a family where the husband is healthy, his wife - is sick and has two children: a boy and girl are healthy, have two children - a boy and a girl - are sick. The mutant gene is localized on the X - chromosome.
39. Build a family tree of the family, determine the genotypes of pedigree members, inheritance, and to calculate the genetic risk of having a patient in a family where the parents are healthy consanguine marriages (uncle and niece), children: a boy and a girl are sick.
40. Build a family tree of the family, determine the genotypes of parents with second and third blood group ABO system (mother - homozygote, father - heterozygote) genotypes and types of children's blood, antigens in red blood cells, antibodies in the serum of all members of the family tree
41. Build a family tree of the family, determine the genotypes of parents with ІVgruppu I and ABO blood, genotypes and blood groups of children, the types of antigens in red blood cells, antibodies in the serum of all members of the family tree
42. Build a family tree of the family, determine the genotypes of pedigree members, inheritance, and genetic risk of having a sick child in a family where my father - well, his mother - was ill, and heterozygous, healthy daughter, a son is sick. Penetrance of the mutant gene - 30%.
Head. Chair, Professor E.U. Kuandykov
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