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Biology and Genetics 1

Class at First Faculty of Medicine |
B00005

Syllabus

CONTENT OF THE COURSE IN BIOLOGY AND MEDICAL GENETICS

Cellular Basis of Inheritance

Structure and Function of Prokaryotes

Reproduction and Genetics of Bacterias and Viruses

Conjugation, Transformation and Transduction.

Episomes and Plasmids

Structure and Function of Eukaryotic Cells

Signal Transmission in the Cell (receptors, G proteins, T kinases)

The Cell Cycle and its Regulation and Disturbances

Mitosis and its Disturbances

Cell and Tissue in vitro Cultivation

Meiosis and its Disturbances

Gametogenesis

Chromosomes

Structure of the Prokaryotic Chromosomes

Structure the Eukaryotic Chromosomes

Chromosome Number and Structure, Techniques of Examination

Human Chromosomes (Karyotype)

The Sex Chromosomes and Sex Determination

Disorders of the Autosomes

Disorders of the Sex Chromosomes

Abnormalities of Chromosome Structure

Aetiology of Chromosome Abnormalities

Indications for Chromosome Analysis

Prenatal Diagnosis of Chromosome Abnormalities

Germ Cell and Somatic Cell Chromosome Mutations

Patterns of Inheritance

Genotype Variation, Mutations and Recombination

Phenotype Variation, Environmental Influences

G. Mendel and his Laws of Inheritance

Family Studies, Pedigree Analysis

Twins and Twin Studies

Patterns of Autosomal Dominant Inheritance

Patterns of Autosomal Recessive Inheritance

Patterns of X-Linked Inheritance

Multifactorial Inheritance, Heritability

Disorders with Multifactorial Inheritance in Man

Genetic Liability, Threshold Model.

Dihybridism, non-allelic genes interaction

Multiple Alleles

Genetic Linkage

Crossing-over, its mechanism and importance

Genetic Linkage Analysis

Genetic Mapping, Application of Human Genome Mapping

Extrachromosomal and Non-Mendelian Inheritance

Molecular Basis of Inheritance

DNA, Structure and Function

RNAs, Structure and Function

Gene Structure and Function

The Genetic Code

Protein coding and signal sequences of DNA

DNA Replication

Transcription and RNA Processing and Splicing

Translation and Posttranslational Processing

Gene Expression and its Regulation in Prokaryotes

Gene Expression and its Regulation in Eukaryotes

Mutagenes and Mutagenesis

Gene Mutations, Types and Effects

DNA Repair Mechanisms and their Disturbances

Haemoglobin and the Haemoglobinopathies

Nucleic Acid Polymorphism

Protein Polymorphism

The Molecular Basis of Genetic Diseases

The Inborn Errors of Metabolism, Prevention and Therapy

Gene Manipulation

DNA Diagnostic Direct Methods

DNA Diagnostic Indirect Methods

Physical Mapping of Human Genome, HUGO

Immunogenetics

The Major Histocompatibility Complex, HLA

Genetics of Immunoglobulin Structure and Diversity

Genetics of Transplantations

Genetic Control of Immune Response

The Function and Cooperation of Immunocompetent Cells

The ABO Blood Groups, Genetics and Clinical Importance

Rhesus Blood Group. Haemolytic Disease of the Newborn

Immunodeficiency, Immunotolerance

Developmental Genetics

Genetics of Embryonic Development,

Cell Differentiation

Aging and Death, Apoptosis.

Genomic Imprinting

Sex Differentiation and its Disturbances

Dysmorphology, Birth Defects in Humans

Teratogenesis and Teratogenes

Mutagenic and teratogenic factors of Environment

Cancer Genetics

Cancer Cells Characteristics

Protooncogenes and Oncogenes

Tumour Suppressor Genes

Mutator Genes and Genome Stability.

Cancer Families

Presymptomatic Diagnostics of Cancers

Immunity and Tumours, Gene Therapy

Population Genetics

Mendelian Population, Castle-Hardy-Weinberg Law

Genetic Polymorphisms

Factors Affecting C.-H.-W. Equilibrium

Natural Selection (types)

Inbreeding, Consanguinity and Inherited Diseases

Genetic Drift and Gene Flow

Genetic Mechanisms of Evolution

Chromosome and Protein Evolution

Evolution of the Human Species, Races

Ecology, Main Ecology Problems.

Medical Genetics

Genetic Counseling

Carrier Detection and Presymptomatic Diagnostics

Population Screening

Prenatal Diagnosis of Genetic Diseases

Prevention and Treatment of Genetic Diseases

Gene Therapy

Ethical Issues in Medical Genetics, Eugenics.

Annotation

Biology of procaryotic and eucaryotic cell. Mitosis, meiosis, regulation.

Mendelian inheritance. Gene interaction.

Multifactorial inheritance. Genetic analysis.

Gene linkage. Genealogy.

Human chromosomes and chromosomal aberrations.