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Transcript
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(
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«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(
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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(
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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
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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;
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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”
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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
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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;
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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,
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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(
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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)
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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):
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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,
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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.
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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.
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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(
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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(
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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(
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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(
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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(
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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(
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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(
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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