MINISTRY OF HEALTHCARE OF THE REPUBLIC OF MOLDOVA
STATE UNIVERSITY OF MEDICINE AND PHARMACY
„NICOLAE TESTEMIŢANU”
Approved
Approved
at the meeting of the Medicine Faculty
Nr.2,
Minutes Nr._____din 8.02.2011
at the meeting of the Department of Molecular
Biology and Human Genetics
Minutes Nr.12 din 07.02.2011
Dean of the Medicine Faculty Nr.2
Dr., professor
Chief of the Department,
Ph D., associated professor
___________________________ M. Betiu
___________________________ I. Cemortan
SYLLABUS
Dentistry Deartment
Name of the Course: Human Genetics
Code of the Course: F.02.O.017
The type of Course: Compulsory discipline
The total number of hours – 51 hours,
Including theoretical classes/lectures – 17 hours, practical classes – 34 hours;
Number of credit-tests provided for the course: 2 credits
Teaching staff:
Ph D, associated professor Igor Cemortan
Dr., associated professor Svetlana Capcelea
Ph D, associated professor Ludmila Perciuleac
Dr., associated professor Dumitru Amoaşii
Chişinău 2011
1. The purpose of the Human Genetics discipline:
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Studying the molecular basis of heredity and variability; human karyotype, chromosomal
abnormalities; organization of human genome; human genes; gene mutations; normal and
pathological traits, monogenic and polygenic diseases; prophylaxis of genetic diseases;
genetic counseling; prenatal diagnosis.
Training skills in analysis and interpretation of scientific data;
Developing the capacity of selection and indication of the genetic methods of investigation
and diagnostic depend on the clinical presentation.
2. The objective of professional formation/education/development within the discipline Human
Genetics:
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a) at the level of knowledge and understanding:
to know the main properties of living things – heredity and variability;
to know the molecular and cellular substrate of heredity – DNA and chromosomes;
to understand the principles of the human genom organization, the particularities of the storage,
transmission and expression of the genetic information at the molecular, cellular and organismic
levels;
to understand the basic processes of variability – mutations, recombinations, migrations;
to know the main lows of inheritance of the normal and pathological human traits (monogenic and
polygenic);
to know the principles of the methods of human gene analysis.
b) At the level of application:
to distinguish the normal and pathological human karyotypes;
to be able to use the main tools of the microscopic investigations of human chromosomes (Barr test);
to assess the practical role and usefulness of the karyotyping in medicine;
to give a correct interpretation of the different methods of gene analysis;
to be able to apply the main inheritance rules to human normal and pathological traits;
to give a correct interpretation of genealogical trees; determine the type of inheritance and the risk to
have sick children in family;
to apply different methods of human genetics: twins method, population-statistic method.
c) at the level of integration:
to appreciate the importance of Human Genetics in medical context and integration with the basic
and clinical disciplines;
to demonstrate and explain molecular mechanisms of heredity and variability both in norm and
pathology;
to find relations between the phenotype and genotype;
to be able to deduce the possible reasons of the main types of genetic diseases, starting from gene to
protein and specific trait;
to be able to choose the necessary method of the genotypic diagnosis;
to be able to apply the accumulated knowledge in scientific investigations;
to be able to use critically the obtained scientific investigations using new IT technologies;
to be able to use multimedia technologies to select, asses, store, produce and communicate
information;
to make purposes for scientific research in Human Genetics, develop specific research projects and to
base their applicability in clinical practice;
to be able to study to learn for a management of the own professional route.
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3. Conditions and preliminary requirements:
Human Genetics is a fundamental biological discipline, which at the university study will enable
future doctors to know the molecular basis of heredity and variability, the fundamental lows of
inheritance, of human traits, to understand the causes and mechanisms of the genetic diseases, the
methods of gene analysis to evaluate and interpreted the results of the prenatal and postnatal
molecular diagnostic.
Discipline requires knowledge in the molecular biology, biochemistry and other preclinic
disciplines.
4. Basic content of the course:
A. Theoretical classes
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
Theme
Introduction into human genetics. Genetics – the science of heredity and
variability. Human genetics – fundamental and applicative science. Human,
heredity and environment. The role of Human Genetics in medicine.
Morphology and structure of chromatin. Euchromatin and heterochromatin. Sexual
chromatin. Morphology and structure of human chromosomes. Methods of
studying of human chromosomes. Techniques of chromosome banding.
Polymorphism of chromosomes. Identification, classification and nomenclature of
human chromosomes. Sexual chromosomes.
Chromosome abnormalities. Abnormalities in chromosome number. Abnormalities
in chromosome structure. Chromosomal formulas. Chromosomal syndromes.
Inheritance of genetic information from cell to cell. Segregation of chromosomes
during mitosis. Errors of distribution of genetic information during mitosis.
Chromosomal mosaics.
Transferring of genetic information from ascendant to offspring. Genetic events
during meiosis. Errors of recombination and distribution of chromosomes during
meiosis. Particularities of meiosis in men and women. Errors during fecundation.
Structure and functions of genes. Classical concepts about gene's structure. Locus.
Allelic genes. Polyallelism. Gene linkage. Genetic recombination. Biological and
practical role of linkage and recombination. Actual concepts about gene's structure.
Mutagenesis and transgenic organisms. Localization of genes. Gene mapping. The
"Human genome" project.
Isolation and cloning of genes. Molecular analysis of human genes
Classification of mutations. Genetic recombination. Gene mutations. Spontaneous
and induced mutations. The rate of mutations. Molecular basis of mutations.
Dynamic mutations. Phenotipic consequences of gene mutations.
Functions of genes in relation genotype-phenotype. Relation “one gene – one
trait”. Pleiotropic and polygenic characters. Genetic heterogeneity (allelic and
locus). Gene's interactions: allelic, nonallelic and interaction between genes and
environment. Actual concepts about gene's functions. Relation “one gene – one
polypeptide”. The molecular level of interaction between genes.
Inheritance of monogenic characters. The Mendel's lows. Autosomal-dominant
inheritance. Codomination. Partial dominance. Autosomal-recessive inheritance.
Consanguinity. Sex-linked inheritance. X-linked and Y-linked traits. Expressivity.
Penetration. Phenocopies. Non-mendelian transmission. Mitochondrial inheritance.
Hours
1
2
2
1
1
2
2
1
1
1
3
11.
12.
13.
Genomic imprinting. Uniparental disomy. Mosaics. Polygenic / multifactorial
transmission. Polygenic inheritance. Predisposition for polygenic diseases.
Non-mendelian transmission. Mitochondrial inheritance. Genomic imprinting.
Uniparental disomy. Mosaics. Polygenic / multifactorial transmission. Polygenic
inheritance. Predisposition for polygenic diseases.
Genetic of population. Human populations. The Hardy-Weinberg principle.
General information about genetic pathology. Genetic diseases. Classification and
frequency of diseases. General characterization of genetic diseases. The methods
of studying and diagnostic of genetic diseases. Genetic counseling. Studying of
genes effects (primary and secondary). Genetic investigations: chromosome
analysis; direct and indirect genotyping. Experimental investigations. Investigation
of twins. Prophylaxis of genetic diseases. Genetic counseling. Prenatal diagnosis.
Total
1
1
1
17
B. Practical lessons
1.
Theme
Genetic apparatus of human cell. Nuclear and mitochondrial genome.
Hours
2
2.
Morphology and structure of human chromosomes. Identification, classification
and nomenclature of human chromosomes. Sexual chromosomes.
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3.
Methods of studying of human chromosomes.
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4.
5.
6.
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10.
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17.
Chromosome abnormalities. Abnormalities in chromosome number. Abnormalities
in chromosome structure.
Inheritance of genetic information from cell to cell. Segregation of chromosomes
during mitosis. Errors of distribution of genetic information during mitosis.
Chromosomal mosaics.
Transferring of genetic information from ascendant to offspring. Genetic events
during meiosis. Errors of recombination and distribution of chromosomes during
meiosis. Particularities of meiosis in men and women. Errors during fecundation.
Evaluation of the normal and pathological human karyotypes.
Human genes: structure, functions and location.
Methods of direct and indirect gene analysis.
Gene mutations. Molecular basis of mutations. Dynamic mutations. Phenotypic
consequences of gene mutations.
Normal monogenic human traits (I). Human blood types (AB0, Rh).
Normal monogenic human traits (II). Inheritance of the systems: MNS, Hp, Xg,
HLA.
Polygenic / multifactorial transmission. Polygenic inheritance.
The study of human hereditary traits.
Human pathological monogenic traits. Types of inheritance. Pedigree analysis.
Inheritance of human pathological traits with incomplete penetrance, variable
expression, genetic heterogeneity.
Prophylaxis of genetic diseases. Genetic counseling. Prenatal diagnosis.
Total
2
2
2
2
2
2
2
2
2
2
2
2
2
2
34
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5. Recommended bibliography:
A. Mandatory:
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6.
Genetica Umană Rogoz I.Perciuleac L. 2002, 100 exemplare
Culegere de teste la Biologia moleculară şi Genetică umană Ţaranov L. Cherdivarenco N. Capcelea S. Perciuleac L.
Terehov V.Rotaru L.Platon E. Cemortan I. 2003, 474 exemplare
Сборник тестов и задач по молекулярной биологии и Генетики человека Царанов Л.Кердиваренко Н.Капчеля
С. Перчуляк Л. Терехов В.Ротару Л.Платон Е. Чемортан И. 2003, 373 exemplare
Human Molecular Genetics Strachan T., Read A. 2001, 25 exemplare
Genetica umană. Elaborări metodice / Генетика человека. Методические указания / Human genetics. Exercise
book Capcelea S., Perciuleac L., Cemortan I. 2010
Curs de Genetică umană Capcelea S., Cemortan I. 2010
B. Supplementary:
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.
12.
13.
14.
15.
16.
17.
Genetica medicală Covic M., Ştefanescu D., Sandovici I. 2004
Genetica medicală: Progrese recente. Ştefănescu D. Şi al. 1998
Bazele geneticii. Manual pentru şcolile medicale. Caruzina I.P. 1990
Culegere de probleme la genetica generală şi medicală. Helevin N.V. şi al. 1993
Общая генетика. Учебник для студентов биологических специальностей. Алиханян С.И. 1985
Задачник для общей и медицинской генетики. Хелевин Н.В. 1984
Genetica: Lucrări practice. Movileanu V. Popa N. 1996
Общая генетика. Дубинин Н.П. 1986
Curs de biologie moleculară Cemortan I., Capcelea S., Ţaranov L., Amoaşii D., 2000
Молекулярная биология Чемортан И.Капчеля С.Царанов Л.Амоаший Д. 2001
Наследственные синдромы и медико-генетическое консультирование С. Козлова1996
Diagnostic cytogenetics R. Wegner1999
Genes B. Lewin1997
Medical genetics Sack, George H. 1999
Gene genetique: une histoire, une defi E. Heberle-Bors 1996
Mic ghid de diagnostic în bolile rare M. Puiu, C. Skrypnyk 2009
Esenţialul în 101 boli genetice rare M. Puiu 2007
6. The methods of teaching and learning used:
Human Genetics is a compulsory subject and is taught in accordance with the classical
standards: theoretical classes and practical classes. The theoretical classes are held by the teaching
staff. During practical lessons the theoretical issues are discussed as it is described in exercise books;
the problems, studies of cases and tests are solved; the interactive methods of teaching and learning are
applied; the virtual laboratory works are carried out.
7. Suggestions for individual activity:
It is known that one of the least efficient methods of learning is passive listening of the
courses, even if they are well structured and explained. If you want to assimilate successfully
Molecular Biology, you should work actively with material. For this purpose you can follow a
few tips:
 Before coming to classes, it is useful to get acquainted with the material to listen to;
 Don’t outline automatic the course, but go through information provided by the
professor;
 If you do not understand enough the material, ask the teacher, colleagues, refer to the
manuals;
 In preparation for practical works, summary tests, exams make notes, diagrams, work
in groups;
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After you have learned the material, test your knowledge solving tests and problems
given in the exercise book and test collections;
Participate actively in discussions during practical work; only when formulated ideas
on the meaning the audience can say with certainty that you have mastered the
material;
Try to find the relation between the information obtained in Molecular Biology and
that obtained in other basic subjects;
Focus upon the medical aspects; apply knowledge gained from Molecular Biology to
clinical disciplines.
7. Method of assessment:
Current assessment
The discipline Human Genetics has 2 summary test and current computer tests:
Summary test nr.1:
- Genetic apparatus of human cell:
- Heredity – molecular basis, medical importance
- Variability – sources, types, medical importance
- Human chromosomes
- Chromosomal abnormalities
- Sex chromatin
- Cell-cell transmission of genetic information
- Generation to generation transmission of genetic material
Summary test nr.2:
- Human genes: structure, functions, location
- Gene mutations
- Methods of gene analysis
- Human normal monogenic traits
- Monogenic diseases
Each summary test is denoted by grades from 0 to 10. Summary test can be sustained 2 times, plus
once in the last week of semester (week for attestation). Annual mark is an average of the marks for the
summary tests.
Summary test consists of two parts: a written test and a computer test. Written test includes 8-10
items; computer test consists of 30 questions (single and multiple choice).
For final examination of Human Genetics are admitted only the students who have an annual mark
equal to 5 and more than 5 and without unrecovered absences.
Final assessment:
The final exam in Human Genetics consists two parts, each is eliminatory:
1st part – PRACTICAL PART in written form, consist of 10 exercises:
- definitions;
- exercises related to:
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organization of genetic material (karyotype, sex chromatin);
inheritance of genetic material and errors of distribution (mechanisms and
consequences of errors of mitosis and meiosis);
• inheritance of monogenic normal traits (blood groups);
• Inheritance of abnormal traits (types of inheritance, criteria of recognition,
calculation of risks);
• applications of methods of gene analysis in medical genetics (genealogical, twins,
population-statistical, molecular-genetics, cyto-genetics, biochemical);
• point mutations and their consequences;
• chromosomal errors (karyotype-phenotype, mechanisms).
„Genetics of development”, „Genetics of sex development”, „Immunogenetics”, „Cancer
genetics”, „Prenatal diagnosis”);
Filling in legends of pictures, tables.
2nd part – TEST CONTROL (the answers will be checked by TestEditor program).
Each test contains 100 questions:
40 questions Simple Choice (CS – a single answer)
60 questions Multiple Choice (CM – 2, 3 or 4 answers)
The final mark consists of 3 components: annual average mark (50%), written part (30%) and
single/multiple choice test (20%).
8. Languages of instruction:
Romanian, Russian, English.
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