MEDICAL GENETICS
THE PROGRAM OF LECTURES AND PRACTIC LESSONS
Lectures
Introduction in Medical Genetics.
Heredity and pathology.
Classification of genetic diseases.
Hrs.
Practical lessons
Hrs.
1
Peculiarities of genetic diseases.
1
Methods of evaluation of genetic
nature of pathology. Method of
pedigree.
Monogenic (molecular) diseases.
1
Clinical and genetic features of more
common monogenic diseases.
5
Chromosomal diseases. Risk factors
for appearance of chromosomal
aberrations.
2
Clinical and cytogenetic features of
more common chromosomal
pathologies.
5
Multifactorial diseases. General
characteristics of diseases with
genetic predisposition.
1
Measures of cytogenetic diagnosis
of chromosomal pathology.
4
Principles of therapy of genetic
diseases/ Prophylaxis of genetic
diseases.
2
Methods of molecular diagnosis of
genetic diseases.
4
Familial planning.
2
Prenatal diagnosis. Medico-genetic
counseling.
6
Total:
10
Total:
2
26
No.
1.
2.
3.
MEDICAL GENETICS
ANALYTIC PROGRAM
Themes
Introduction in medical genetics.
Humans, heredity and environment. Organization and functioning of
hereditary information. Heredity of normal and pathologic
characters.
Heredity and pathology.
Mutational variability as a basis of pathology.
Role of hereditary and environmental factors in development of
pathology.
Classification of genetic pathology.
Peculiarities of genetic pathologies.
Peculiarities of clinical manifestations of hereditary pathologies.
Genetic determinism and hereditary transmission. Chronic,
progressive and relapsing course of hereditary pathologies.
Resistance to traditional therapy.
Congenital malformations and its variants.
Methods of evaluations of genetic nature of pathology.
Specifics of clinical picture and evolution of genetic pathology.
Method of pedigree. Development and studying of pedigree. Role of
syndromologic approach to genetic pathology.
Monogenic (molecular) pathology.
Etiology, classification and major peculiarities of pathogenesis of
molecular pathology.
Peculiarities of clinical patterns of molecular pathology. Clinical
polymorphism and its causes. Genetic heterogeneity.
Clinics and genetics of more common monogenic disorders.

Enzymopathies:

Phenylketonuria;

Adrenogenital syndrome;

Syndromes with neurological disorders:

Duchenne-Becker muscular dystrophy;

Neurofibromatosis (Reclinghauzen’s disease);

Fragile X syndrome;

Syndromes with disorders of connective tissue:

Ehlers-Danlos syndrome;

Marfan syndrome;

Familial hypercholesterolemia;

Autosomal-dominant polycystic kidneys disease;

Cystic fibrosis;

Hemophilia A and B;

Alport syndrome.
Medico-genetic counseling, genetic risk’s calculation in monogenic
Lect.
hrs.
Pr.
hrs.
1
1
2
1
5
4.
5.
6.
pathologies.
Chromosomal pathologies.
Normal human karyotype. Etiology and classification of
chromosomal aberrations. Consequences of numerical and structural
chromosomal aberrations.
Reproductive disorders caused of chromosomal aberrations.
Pathogenesis of chromosomal disorders. Clinical peculiarities of
more common chromosomal disorders:

Down syndrome (21 trisomy);

Edwards syndrome (18 trisomy);

Patau syndrome (13 trisomy);

Turner syndrome (X monosomy);

Klinefelter syndrome (47, XXY syndrome);

Syndromes of partial aneuploidias;

Submicroscopic chromosomal syndromes;
Risk factors for appearance of chromosomal aberrations.
Multifactorial disorders.
General characteristics of diseases with genetic predispositions.
Polygenic forms of pathology. Role of hereditary and environmental
factors in pathology. Methods of evaluation of share of genetic
factors in multifactorial pathology. Genetic predisposition in
common disorders of adulthood. Major groups of multifactorial
pathology:

Isolated and multiple congenital malformations, critical
periods;

Blastopaties, embryopaties, fetopaties;

Morfogenetic variants of multifactorial disorders;

Common disorders of adulthood (arterial hypertension,
pathologies of coronary vessels, diabetes, ulcerative diseases,
bronchial asthma etc.);

Psychiatric and neurological disorders (schizophrenia,
epilepsy, bipolar disorders, multiple sclerosis etc.).

Cancer (hereditary and familial forms).
Laboratory diagnosis of genetic disorders.
Citogenetic measures (karyotyping, Barr test, FISH).
Methods of preparation of metaphase chromosomes.
Standard methods of chromosome’s preparations from different
cells and tissues (peripheral blood, chorionic villi samples,
amniocytes).
Practical indication for investigation of sexual chromatin and human
chromosomes.
Biochemical methods of diagnosis of enzymopathies. Selective
methods and screening.
Methods of molecular genetics. Direct and indirect molecular
diagnosis of gene’s mutations.
2
5
1
8
7.
8.
9.
DNA sequence for determination of primary structure of gene.
Southern blotting for positioning of gene on the human genome.
PCR technique for amplification of DNA fragments.
Analysis of restriction fragments’ length polymorphism (RFLP) for
identification of normal and mutant alleles.
Polymorphism of DNA. Molecular markers of genetic diseases.
Molecular genetic diagnosis of hereditary diseases.
Principles of therapy of genetic diseases.
Symptomatic and pathogenetic treatment.
Etiologic treatment or gene therapy. Surgical correction.
Prophylaxis of genetic pathologies.
Primary prophylaxis of genetic diseases. Secondary prophylaxis of
genetic pathology.
Prenatal diagnosis.
Preimplantational diagnosis of genetic pathologies.
Prenatal diagnosis of congenital and hereditary diseases.
Invasive and non-invasive methods.
Routine and specialized methods of diagnosis.
Presymptomatic diagnosis of hereditary diseases.
Screening of genetic diseases such as phenylketonuria, congenital
hypothyroidism, adrenogenital syndrome, and cystic fibrosis.
Medico-genetic counseling.
Aim and indications of medico-genetic counseling. General
principles of medico-genetic counseling. Prophylaxis of hereditary
pathology. Methodic and organization aspects of prophylaxis of
hereditary and congenital pathology.
Genetic counseling and calculation of genetic risk for hereditary
pathologies and types of inheritance:

Autosomal-recessive;

Autosomal-dominant;

X-linked recessive;

Chromosomal;

Multifactorial.
Familial planning.
Total:
2
6
2
10
26