Medical Genetics - V. M. Zaporozhan 2005
Introduction to Medical Genetics
Subject and Tasks of Medical Genetics. History of Medical Genetics
Subject and Tasks of Medical Genetics
Main Milestones in the History of Medical Genetics
Molecular Basis of Heredity
Structure and Functions of DNA
Structure and Functions of RNA
Structure of the Eukaryotic Gene
The Genetic Code and Its Properties
Molecular Foundations of Heredity
Cytological Foundations of Heredity
Cellular Structures as Bearers of Genetic Information
Structure and Functions of the Nucleus and Chromosomes - Structure of the Nucleus
Structure and Functions of the Nucleus and Chromosomes - Functions of the Nucleus
Structure and Functions of the Nucleus and Chromosomes - Chemical Composition of Chromosomes
Structure and Functions of the Nucleus and Chromosomes - Chromosome Structure
Structure and Functions of the Nucleus and Chromosomes — Telomeres and Telomerase
Genetic Maps of Human Chromosomes
Review Questions for Chapter 1
Etiology of Hereditary Diseases
Spontaneous and Induced Mutations
Somatic and Germline Mutations
Gene Mutations
Classification of Gene Mutations
Dynamic Mutations (Trinucleotide Repeat Expansions)
Phenotypic effect of gene mutations. Genetic and cellular polymorphism of monogenic disorders
Types of mutations caused by changes in chromosome number and structure
Types of Mutations Caused by Changes in Chromosome Number and Structure
Genomic Mutations - Polyploidy
Types of mutations caused by changes in the number and structure of chromosomes
Genomic mutations - Heteroploidy (aneuploidy)
Types of Mutations Caused by Changes in Chromosome Number and Structure
Mosaicism and Chimerism (Mixoploidy)
Recording Normal and Altered Human Karyotypes
Mutagenic Factors
Defense Mechanisms Reducing the Mutation Rate in Humans
Non-Mendelian Inheritance in Humans
Uniparental Diploidy, Uniparental Disomy, and Isodisomy
Trinucleotide Repeat Expansion
Review Questions for Chapter 2
Classification, general characteristics, and symptomatology of hereditary diseases. General clinical diagnostics.
Classification and general characteristics of hereditary diseases
Classification, general characteristics, and symptoms of hereditary diseases. General clinical diagnostics
Syndromological diagnosis in clinical genetics
Classification, general characteristics, and symptomatology of hereditary diseases. General clinical diagnostics
General principles of clinical diagnostics of hereditary diseases
Classification, general characteristics, and symptomatology of hereditary diseases. General clinical diagnostics.
Peculiarities of anamnesis collection
General principles of clinical diagnosis of hereditary diseases
Congenital malformations and microanomalies of development as signs of dysmorphogenesis
Classification, general characteristics, and symptomatology of hereditary diseases. General clinical diagnostics
General principles of clinical diagnostics of hereditary diseases
Symptoms of hereditary and congenital pathology across various age periods
Review questions for Section 3
Clinical-Genealogical Method
Significance of the Method. Principles of Pedigree Construction
Collection of Genealogical Anamnesis
Rules for Pedigree Construction
Genealogical Analysis and Genetic Risk Calculation
Clinical-genealogical method
Characteristics of pedigrees with various inheritance patterns
Autosomal dominant inheritance pattern
Clinical-Genealogical Method
Characteristics of Pedigrees with Various Inheritance Patterns
Autosomal Recessive Inheritance
Pedigrees in Mitochondrial Inheritance
Clinical-genealogical method
Review questions for Chapter 4
Chromosomal Diseases
The Role of Chromosomal and Genomic Mutations in Ontogenesis
Classification of Chromosomal Diseases
Pathogenesis of Chromosomal Diseases
General Symptoms of Chromosomal Diseases
Clinical and cytogenetic characteristics of the most common chromosomal disorders and syndromes
The Concept of Microcytogenetic Syndromes
Diagnosis of Chromosomal Diseases
Chromosomal Disorders
Prenatal Diagnosis of Chromosomal Abnormalities
Principles of Medical-Genetic Counseling
Chromosomal Diseases
Review questions for Chapter 5
Monogenic Disorders
Etiology of Monogenic Disorders
Genetic Heterogeneity of Monogenic Diseases
Clinical features of monogenic diseases
Classification of Monogenic Disorders
V. McKusick's Catalog of Genes and Mendelian Inheritance
Population frequency of monogenic diseases
Clinical Features and Genetics of Certain Monogenic Disorders
Clinical Features and Genetics of Selected Monogenic Disorders
Clinical Features and Genetics of Certain Monogenic Disorders
Sex-Linked Inheritance – X-Linked Recessive Disorders
Sex-Linked Inheritance - X-Linked Dominant Disorders
Sex-Linked Inheritance - Y-Chromosome-Linked Inheritance
Diagnosis of Monogenic Disorders
Prenatal Diagnosis of Monogenic Disorders
Monogenic Diseases
Principles of Treatment for Monogenic Disorders
Monogenic Disorders
Review Questions for Chapter 6
Multifactorial Diseases
General Characteristics and Classification
Genetics of Certain Common Multifactorial Diseases
Genetics of Certain Common Multifactorial Disorders
Genetics of Certain Common Multifactorial Diseases
Genetics of Some Common Multifactorial Diseases
Susceptibility to infectious diseases
Determination of Genetic Predisposition
Ecogenetics
Examples of ecogenetic pathological reactions — α1-antitrypsin deficiency
Examples of Ecogenetic Pathological Reactions — Paraoxonase Enzyme Polymorphism
Examples of ecogenetic pathological reactions — Polymorphism of carcinogen metabolism genes
Examples of ecogenetic pathological reactions - Ecogenetic reactions to food products
Pharmacogenetics
What is pharmacogenetics? Phases of biotransformation
Examples of Pharmacogenetic Reactions — Hypersensitivity to Dithylin
Examples of pharmacogenetic reactions – Malignant hyperthermia
Changes in Drug Responses in Patients with Hereditary Diseases
Review Questions for Chapter 7
Fundamentals of Oncogenetics
Genetics and Oncological Diseases
Regulation of the Mitotic Cycle
General characteristics of genes responsible for tumor development
Basics of Oncogenetics
Targets of Gene Action Involved in Carcinogenesis
Fundamentals of Oncogenetics
Basics of Oncogenetics
Fundamentals of Oncogenetics
Basics of Oncogenetics
Potential for Molecular Genetic Diagnosis of Tumors
Fundamentals of Oncogenetics
Review Questions for Chapter 8
Congenital Malformations
Classification of Congenital Malformations
Gene families responsible for hereditary developmental defects. Developmental genetics
Malformations associated with the action of teratogenic factors
The Concept of "Major" and "Minor" (Systemic) Teratogenesis
Principles of prenatal diagnosis of congenital malformations
Genetic Counseling for Congenital Malformations
Review Questions for Chapter 9
Diagnostic Methods for Hereditary Diseases
Methods for Diagnosing Hereditary Diseases
Diagnostic methods for hereditary diseases
Use of computer diagnostic software and databases
Methods of Diagnosing Hereditary Diseases
Methods for Diagnosing Hereditary Diseases
Indications for Cytogenetic Diagnosis
Diagnostic Methods for Hereditary Diseases
Methods for Diagnosing Hereditary Diseases
Methods of diagnosing hereditary diseases
Cytogenetic methods
Efficacy of cytogenetic methods
Diagnostic Methods for Hereditary Diseases
Cytogenetic Methods
Determination of Sex Chromatin
Methods for Diagnosing Hereditary Diseases
Molecular-Genetic Methods (DNA Diagnostic Methods)
Indications for DNA Diagnostics
Diagnostic Methods for Hereditary Diseases
Molecular Genetic Methods (DNA Diagnostics)
Starting Material for DNA Diagnostics
Diagnostic Methods for Hereditary Disorders
Stages of DNA Diagnostics Using the Polymerase Chain Reaction
Methods for Diagnosing Hereditary Diseases
Molecular Genetic Methods (DNA Diagnostic Methods)
Molecular-Genetic Methods (DNA Diagnostic Methods)
Other DNA Diagnostic Methods — Use of Restriction Endonucleases
Diagnostic Methods for Hereditary Diseases
Molecular Genetic Methods (DNA Diagnostics Methods)
Other DNA Diagnostic Methods — Electrophoresis of DNA Fragments
Methods of Diagnosing Hereditary Diseases
Molecular-Genetic Methods (DNA Diagnostic Methods)
Other DNA Diagnostic Methods — Southern Blot Hybridization
Methods for Diagnosing Hereditary Diseases
Other DNA Diagnostic Methods — DNA Sequencing
Methods of Diagnostics of Hereditary Diseases
Molecular Genetic Methods (DNA Diagnostics Methods)
Direct and Indirect Methods of DNA Diagnostics
Methods of Diagnosing Hereditary Diseases
Diagnostic Methods for Hereditary Diseases
Molecular Genetic Methods (DNA Diagnostic Methods)
Diagnostic methods for hereditary disorders
Methods for Diagnosing Hereditary Diseases
Methods of Diagnosing Hereditary Diseases
Review Questions for Chapter 10
Prevention of Hereditary Diseases
Medical and social aspects of hereditary and congenital pathology in human populations
Types of Prevention of Hereditary Pathology
Medical-Genetic Counseling
Concept of Medical-Genetic Counseling
Medical Genetic Counseling
Organization of Medical Genetic Care for the Population of Ukraine
Objectives and Stages of Medical Genetic Counseling
Preconception Prevention of Hereditary Diseases and Congenital Malformations
Prenatal Diagnosis of Hereditary Diseases and Congenital Malformations
Classification of Prenatal Diagnostic Methods
Non-Invasive Methods - Maternal Serum Markers
Non-invasive methods — Ultrasound scanning
Prevention of Hereditary Disorders
Use of Fetal Cells Circulating in Maternal Blood for Prenatal Diagnosis of Hereditary Diseases
Prevention of Hereditary Diseases
Diagnostic Methods for Hereditary Pathology within Modern Reproductive Technologies Systems
Preimplantation Genetic Diagnosis
Diagnostic Methods for Hereditary Pathology in the System of Modern Reproductive Technologies
Genetic Testing of Sperm Donors Used for Artificial Insemination
Elimination of embryos and fetuses with hereditary pathology and congenital malformations
Prenatal Treatment of Certain Hereditary Diseases and Malformations
Identification of heterozygous carriers of recessive mutant genes as a method of primary prevention
Ethical, Moral, and Legal Issues in Medical Genetics
Review Questions for Chapter 11
Answers to self-assessment questions
Genetic map of human chromosomes