Human Genetics Videobook

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I- Introduction to Genetics

🔜The Origins of Medical Genetics

Mendel’s Laws

🧬 Intro

🧬 Mendel’s Law of Segregation

🧬 Mendel’s Law of Independent Assortment

🧬 Deviation from Mendel’s Laws

🔜The Impact of Genetic Disease



II- Mendelian Approach

🔜Mendelian Inheritance

🔜Multiple Alleles and Complex Traits

🔜Anticipation

🔜Mosaicism

🔜Uniparental Disomy



III- Patterns of Inheritance

🔜Probability Theory

🔜The Use of Linked Markers

🔜Bayes’ Theorem and Prenatal Screening

🔜Empiric Risks

Autosomal Dominant Inheritance and Pharmacogenetics

🧬 Intro

🧬 Clinical Examples

🧬 Estimation of risk and Rules

🧬 Pharmacogenetics

Autosomal Recessive Inheritance

🧬 Intro

🧬 Inheritance Pathway

🧬 Estimation of Risk and Congenital Deafness

🧬 Rules

X-Linked and Y-Linked Inheritance

🧬 Introduction

🧬 Sex Linkage

🧬 Sex Related Traits

Mitochondrial Inheritance

🧬 Introduction

🧬 Human mtDNA and Examples

🧬 Genetic Disorders Involving Mitochondria and Therapy

🔜Drug Metabolism

🔜Genetic Variations Revealed by the Effects of Drugs

🔜Personalized Medicine

🔜Treatment of Genetic Disease

🔜Gene Therapy

🔜RNA Modification

🔜Targeted Gene Correction



IV- Basic Cell Biology

🔜The Cell

DNA

🔜Chromosome Structure

What is a Telomere and its Functions?

🔜Types of DNA Sequence

Exons and Introns

🧬Introduction

🧬 Splicing and Rules

🧬 Comparison of Exons and Introns of Different Species

Why Do Introns Exist?

🔜Transcription

🔜Translation

Genetic Code

🧬 Intro

🧬 General Features

🧬 Triplet Code

🧬 Frameshift Mutation

🧬 Coding Dictionary

🔜Regulation of Gene Expression

🔜RNA-Directed DNA Synthesis

🔜Mutations

What is Genetic Mutation?

What are the Types of Genetic Alterations?

Dynamic Mutation

🧬 Intro

🧬 Huntington’s Disease

🧬 Fragile X Syndrome

🧬 Myotonic Dystrophy-1

🔜Mutations and Mutagenesis

Mutagenesis and DNA Repair



V- Basic Molecular Biology

Signal Transduction Cascade

🧬 Intro

🧬 G-Protein, Tyrosine kinase and cGMP Signaling

🧬 CREB in Nervous System and Insulin Signaling

🔜DNA: Human Chromosomes

🔜Methods of Chromosome Analysis

🔜Molecular Cytogenetics

🔜Chromosome Nomenclature

🔜Cell Division

Mitosis

Meiosis

What is Genome?

What is Meant by Semiconservative Replication?

🔜Gametogenesis

Genomic Imprinting

🔜Chromosome Abnormalities



VI- Population and Mathematical Genetics

🔜Allele Frequencies in Populations

🔜Genetic Polymorphism

🔜Segregation Analysis

🔜Genetic Linkage

🔜Medical and Societal Intervention

🔜Conclusion



VII- Monogenic Disorders

🔜Neurological Disorders

🔜The Hereditary Ataxias

🔜Inherited Peripheral Neuropathies

🔜Motor Neurone Disease (MND)

🔜Neurocutaneous Disorders

🔜Muscular Dystrophies

🔜Respiratory Disorders

🔜Inherited Cardiac Conditions (ICCs)

🔜Connective Tissue Disorders

🔜Renal Disorders

🔜Blood Disorders



VIII- Cytogenetics

Chromosome Analysis

🧬 Intro

🧬 Chromosome Banding Techniques

🧬 Fluorescent in situ hybridization

🧬 Comparative Genome Hybridization

Aneuploidies

🧬 Introduction

🧬 Polyploidy

🧬 Non-Disjunction

🔜Sex Chromosome Aneuploidies



IX- Chromosome Disorders

Chromosome Structural Abnormalities

🧬 Intro

🧬 Deletions, Ring and Duplications

🧬 Inversions, Isochromosomes and Fragile Sites

Clinical Chromosome Abnormalities

🧬 Intro

🧬 Cri-du-Chat, Wolfe-Hirschhorn, Williams-Beuren Syndromes

🧬 DiGeorge, Smith-Magenis, Sotos Syndromes

Contiguous-Gene and Single-Gene Syndromes

🧬 Intro

🧬 Contiguous-Gene Syndromes

🧬 Single-Gene Syndromes



X- Genetics of Cancer

Hallmarks of Cancer

🧬 Intro

🧬 Cancer

🧬 Eight Hallmarks of Cancer

🔜Differentiation Between Genetic and Environmental Factors in Cancer

🔜Oncogenes

🔜Tumor Suppressor Genes

🔜Epigenetics and Cancer

🔜Genetics of Common Cancers

🔜DNA Tumor Profiling and Mutation Signatures

🔜Genetic Counseling in Familial Cancer



XI- Developmental Genetics

🔜Fertilization and Gastrulation

🔜Developmental Gene Families

Human Embryology

🧬 Intro

🧬 Pre-Embryo Development

🧬 Gastrulation and Neurulation

Pharyngeal Arches

🧬 Pharyngeal Apparatus

🧬 Pharyngeal Arch - I

🧬 Pharyngeal Arch - II

🧬 Pharyngeal Arch - Overview

🧬 Pharyngeal Arch - III

🧬 Dysmorphology - I

🧬 Pharyngeal Arch - IV & VI

🧬 Pharyngeal Cleft - IV & Pouch - IV

🧬 Dysmorphology - II

Development of CNS

🧬 Neurulation

🧬 Neural Crest Cells

🧬 Spinal Cord and Brain

Development of The Eye

🧬 Introduction

🧬 Optic Cup and Lens

🧬 Retina

Heart Tube and Heart Loop

🧬 Structure of Heart

🧬 Heart Tube

🧬 Heart Loop

🧬 Sinus Venosus and Congenital heart Defect

Heart Atrium and Ventricles

🧬 Heart Tube and Loop Overview

🧬 Endocardial Cushions and Valves

🧬 Atria

🧬 Ventricles

Arterial System

🧬 Vasculogenesis and Angiogenesis

🧬 Thoracic Aorta

🧬 Abdominal Aorta

Venous System

🧬 Heart Development

🧬 Vitelline and Umbilical Veins

🧬 Cardinal Veins

🔜The Role of Cilia in Developmental Abnormalities

🔜The Limb as a Developmental Model

🔜Developmental Genes and Cancer

🔜Positional Effects and Developmental Genes

🔜Hydatidiform Moles

🔜Epigenetics and Development

Sexual Differentation

🧬 Introduction

🧬 Gonads and Genital Ducts Differentiation

🧬 External Genitalia Differentiation

Sex Determination Abnormalities

🧬 Introduction

🧬 Genetic Errors of Testis Determining Factor

🧬 Genetic Errors of Steroidogenesis

🔜Twinning



XII- Congenital Abnormalities

🔜Incidence

🔜Definition and Classification of Birth Defects

Congenital Abnormalities

🧬 Introduction

🧬 Single Congenital Abnormalities

🧬 Multiple Congenital Abnormalities

🔜Genetic Causes of Malformations

🔜Environmental Agents (Teratogens)

Fetal Stage Abnormalities

🧬 Introduction

🧬 Maternal Illness, Infection and Deformations

🧬 Malformations, Drugs and Physical Agents

🧬 Pathogenic Mechanisms

Cardiac Abnormalities

🧬 Cardiac Abnormality Types

🧬 Patent Foramen Ovale and Atrial Septal Defect

🧬 Ventricular Septal Defect and Patent Ductus Arteriosus

🧬 Tetralogy of Fallot and Great Arteries Transposition

🧬 Coarctation of Aorta

🔜Malformations of Unknown Cause

🔜Counseling

🔜Learning Disability



XIII- Multifactorial Inheritance

🔜Principles of Multifactorial Disease

🔜Types and Mechanisms of Genetic Susceptibility

🔜Approaches to Demonstrating Genetic Susceptibility to Common Diseases

🔜Multifactorial Disease in Children

🔜Polygenic Inheritance and the Normal Distribution

🔜Multifactorial Inheritance - the Liability/Threshold Model

🔜Identifying Genes That Cause Multifactorial Disorders

🔜Disease Models for Multifactorial Inheritance

🔜Common Disorders of Adult Life

🔜Twin Studies



XIV- Hemoglobinopathies

🔜Structure of Hb

🔜Developmental Expression of Hemoglobin

🔜Globin Chain Structure

🔜Synthesis and Control of Hemoglobin Expression

🔜Disorders of Hemoglobin

🔜Clinical Variation of the Hemoglobinopathies

🔜Antenatal and Newborn Hemoglobinopathy Screening



XV- Immunogenetics

🔜Immunity

🔜Immunogenetics, Cellular and Molecular Aspects

🔜Innate Immunity

🔜Specific Acquired Immunity

🔜Inherited Immunodeficiency Disorders

🔜Blood Groups

🔜Autoimmunity, HLA and Transplantation



XVI- Biochemical Genetics

🔜Disorders of Amino Acid and Peptide Metabolism

🔜Disorders of Carbohydrate Metabolism

🔜Disorders of Steroid Metabolism

🔜Disorders of Lipid and Lipoprotein Metabolism

🔜Lysosomal Storage Disorders

🔜Disorders in the Metabolism of Purines, Pyrimidines, and Nucleotides

🔜Disorders of Porphyrin and Heme Metabolism

🔜Disorders in the Metabolism of Trace Elements and Metals

🔜Lysosomal, Glycogen Storage and Peroxisomal Diseases

🔜Disorders of Fatty Acid and Ketone Body Metabolism

🔜Disorders of Energy Metabolism

🔜Prenatal Diagnosis of Inborn Errors of Metabolism

🔜Biochemical Diagnosis



XVII- Molecular Diagnosis

🔜DNA Hybridization-Based Analysis Systems

🔜DNA Sequencing

Restriction Enzymes

🧬 Introduction

🧬 Nomenclature and Types

🧬 Application and Examples

🔜Application of DNA Sequence Polymorphisms

DNA Primer

🔜DNA Profiling

DNA Amplification (PCR)

🧬 Intro

🧬 Steps of PCR

🧬 Advantage and Application

🧬 Reverse Transcriptase and Allele Specific PCR

🔜The Polymerase Chain Reaction

🔜Nucleic Acid Hybridization Techniques

🔜Mutation Detection

🔜Sequencing-Based Methods

🔜Dosage Analysis