- •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. Control:
7.1. An assessment of competences – knowledge.
7.1.1. Oral poll concerning a subject.
7.1.2. Test control – 3 options on 10 questions.
7.1.3. Classify mutations depending on level of damages of a genetic material:
7.1.4. To represent types genomic mutations and to explain mechanisms and their emergence.
I (normal) II (mentioning autosomes) III (mentioning sexual chromosomes )
44хх 44xy
2 2х 22х 22х 22у
44хх, 44хх , 44ху, 44ху
7.1.5. Define mutation types:
|
Kariotype |
Mutation types |
1. |
45,XО |
|
2. |
47,XY,+13 |
|
3. |
47,ХХ,+18, |
|
4. |
47,ХХ,+21 |
|
5. |
49, ХХХУ |
|
7.1.6. In a mitosis anaphase at the person didn't disperse: а) one pair chromosomes; б) two pairs chromosomes. Define quantity of chromosomes in daughter cells.
7.2. An assessment of competences – legal competence.
7.2.1. The law RK from 23.04.1998 N 219-I «About radiating safety of the population».
7.2.2. RK 09.01.2007 N 212 code – III «The ecological code of RK» (Chapter 40).
Lesson №. 2
1. Theme: Chromosomal mutations. Gene (pointing) mutations
2. Purpose: to create at students of knowledge of the reasons of emergence and mechanisms of formation of chromosomal and gene mutations, their role in development of chromosomal and gene diseases.
3. Problems of training:
- to study the reasons of emergence of chromosomal and gene mutations;
- to study types of chromosomal and gene mutations;
- to study mechanisms of development of chromosomal and gene mutations;
- to study a role of chromosomal and gene mutations in emergence of chromosomal and gene diseases.
4. Main questions of a subject:
4.1. Chromosomal mutations, reasons, classification.
4.2. Chromosomal mutations, emergence mechanisms.
4.3. Gene mutations, reasons, classification.
4.4. Mutations as an error of replication, mechanisms and developments.
4.5. Mutations as shift of a frame of reading, development mechanisms.
4.6. Mechanisms of development of hereditary diseases at different types of hereditary diseases.
5. Training methods: the combined method of training (conversation, filling of tables, a sketch of schemes, the solution of situational tasks)
6. Literature:
The main:
6.1. Zhimulev I.B. General and molecular genetics. Novosibirsk, 2006, page 51-77, page 224-233.
6.2. Genetics. Under the editorship of Ivanov V. I. M, 2006. page 164-173, 219-267.
6.3. Medical biology and genetics under the editorship of prof. Kuandykov E.U. Almaty, 2004, page 116- 129.
6.4. Muminov T.A., Kuandykov E.U. Bases of molecular biology (course of lectures). Almaty,2007, page 143-169.
6.5. Mushkambarov N. N., Kuznetsov S. L. Molecular biology. M, 2003, page 78-82.
The additional:
6.1. Ayala F., Kayger Dzh. Modern genetics. M, 1988, page 8-67.
7.1.3. Fill the scheme: Types of a mutation
7.1.4. Define mutation types:
|
Kariotype |
Types of chromosomal mutations |
1. |
46,XX,del(5p |
|
2. |
46,XY,dup(ll)(ql2) |
|
3. |
46,XY,inv(10)(pl3ql2 |
|
4. |
45,XX,rob (14q21q) |
|
5. |
46,ХХ, г(16) |
|
6. |
46,ХХ, t(2;4)(q21;q21) |
|
7. |
46,ХХ/47,ХХ,+21 |
|
7.1.5. To represent types chromosomal mutations and to explain mechanisms of their emergence:
7.1.6. Fill the table: Classification of gene mutations by consequences:
|
Types of gene mutations |
Description of the mechanism of gene mutations |
1. |
Neutral mutations |
|
2.
|
Missens-mutations |
|
3. |
Nonsense mutations |
|
4.
|
Regulatory mutations |
|
5. |
Dynamic mutations |
|
7.1.7. Tasks: No. 1. The composition of hemoglobin of the person includes two - chains (the -chain is coded in the 16th chromosome) and two -chains (the -chain is coded in the 11th chromosome). The structure of a -chain includes 146 aminoacids remains, thus in a normal -chain the sixth aminoacsids rest is glutamin acid. With participation of a normal -chain normal hemoglobin – HbA is formed. In a transcribed thread of a site of DNA coding a -chain, glutamine acid is coded by a triplet ________. If as a result of a mutation in DNA there will be a replacement of a triplet of GAA by GTA triplet, on a place of glutamin acid in a hemoglobin molecule according to a genetic code will appear _________. As a result instead of HbA hemoglobin there will be a new hemoglobin – replacement only one nucleotide and one amino acid leads HbS. Replacement only one nucleotide and one amino acid leads to development of a serious illness – ______________________. It ________________ mutation.
7.1.8. To represent types of gene mutations and to explain mechanisms of their emergence.
7.1.9. To represent and characterize types of mutations depending on level of violation of a genetic material of a cage (genomic, chromosomal, gene).
Lesson №. 3
1. Theme: DNA reparation
2. Purpose: to create at students of knowledge of molecular bases and mechanisms of restoration of violations of structure and DNA function.
3. Problems of training:
- to study types of damages of a molecule of DNA and mechanisms of their emergence,
- to study types and mechanisms of restoration of normal structure and DNA function,
- to study types and levels of protective anti-mutational mechanisms of an organism,
- to study a role of violations of processes of a reparation of DNA in emergence of hereditary diseases.
4. Main questions of a subject:
4.1. Anti-mutational barriers.
4.2. Reparation, types of a reparation and their mechanisms:
- photoreaktivisation;
- excisional repair;
- postreplikative repair;
- Miss - match repair;
- SOS- repair.
4.3. Biological and medical value of a reparation of DNA.
5. Training methods: the combined method of training (conversation, filling of tables, the solution of situational tasks)
6. Literature:
The main:
6.1. Genetics. Under the editorship of Ivanov V. I. M, 2006, page 164-181.
6.2. Muminov T.A., Kuandykov E.U. Bases of molecular biology (course of lectures). Almaty, 2007, page 156-157.
6.3. Mushkambarov N. N., Kuznetsov S. L. Molecular biology. M., 2003, page 78-82.
6.4. Shchipkov V.P., Krivosheina G. N. General and medical genetics. M, 2003, page 132-133.
The additional:
6.1. Gaynutdinov I.K., Ruban E.D. Medical genetics. Rostov-on-Don, 2007, page 170-173.
6.2. Tinmen V.D.Reparation of DNA and its biological value. L., 1979, page 285-293.
6.3. R.G.Obshchaya's hare and medical genetics. Rostov - on Don, 2002, page 137-143.
6.4. Spivak I.M. Hereditary diseases with primary and secondary defects of a reparation of DNA.//Cytology, 1999, т.41, page 338-379.