- •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
8.1.5.The solution to the problem of restriction of dna.
The DNA molecule of length 5000 pairs of nucleotides (bp) processed separately with restriction enzymes A and B.
Restrictive A cut DNA fragment size of 4 in 2100, 1400, 1000 and 500 pairs of nucleotides.
Processing of the studied fragments simultaneously with two restrictases gave six fragments: 1900, 1000, 800, 600, 500, 200 pairs of nucleotides.
Shows a map of restriction fragment DNA. Using these restriction ferments A and B model the restriction mapping, comparing to this map of restriction fragment DNA.
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8.1.6. Working with the human genomic databases: problem solving.
NF1 gene mutation in humans causes a severe genetic disease, neurofibromatosis type 1. In which chromosome the gene is localized in human NF1?
- Complete a task by:
Online Mendel an Inheritance in Man (OMIM)
Hemophilia A sex-linked disease caused by mutations in the gene for factor VII coagulation krovi.Gen F8C-one of the largest human genes: contains 26 exons. In which chromosome the gene is localized at the person F8C?
- Complete a task by:
Online Mendelian Inheritance in Man (OMIM)
Cystic fibrosis (cystic fibrosis of the pancreas) - the most common monogenic hereditary disease in white men. The protein product of genatransmembranny regulatory protein cystic fibrosis-CFTR, a channel in the apical membranes of epithelial cells, through which the active transport of chloride ions. According to the literature the most majeure (diagnostically relevant) mutations in patients with CF are as follows: delF508, CFTRdel21kb, 2143delT, 3737delA, 2184insA, 394delTT, W1282X, G542X, N1303K. Determine where localization of CFTR gene mutations and the following: delF508, CFTRdel21kb, 2143delT, 3737delA, 2184insA, 394delTT, W1282X, G542X, N1303K в хромосоме человека.
- Complete a task by:
Online Mendelian Inheritance in Man (OMIM)
Human Gene Mutation Database (HGMD)
Phenylketonuria is one the most common autosomal recessive disease caused by an inherited gene defect, PAH, controlling the synthesis of liver enzyme phenylalanine hydroxylase. The incidence in Kazakhstan in the range 1 in 6000-10000 births. The most common type of mutations, single nucleotide substitutions (missense, nonsense and splice site mutations). Majeure with PKU is mutation R408W. Determine where PAH gene localization and gene mutation in the chromosome of R408 a person.
- Complete a task by:
Online Mendelian Inheritance in Man (OMIM)
Human Gene Mutation Database (HGMD)
Family breast cancer and ovarian cancer (BC) is diagnosed almost every 10th woman in Europe. Approximately 5-10% of BC are hereditary. Mapped and identified two genes, onkosupressora-BRCA -1 and BRCA -2, in which mutations are the cause of BC and ovarian cancer families. Which chromosome in humans is localized genes BRCA -1 and BRCA -2?
- Complete a task by:
Online Mendelian Inheritance in Man (OMIM)
8.2 Rating of competence- legal competence
8.2.1. Rights and responsibilities in health care and guarantees of their security (Chapter 16, Code of the Republic of Kazakhstan "Nation health and public health system" in 2009)