The Human Nuclear Genome

I. General Features

II. Protein-Coding Genes

III. RNA-Coding Genes

IV. Epigenetic Control

DNA Packaging

I. The Biochemistry of Nucleic Acids

II. Levels of DNA Packaging

III. Centromere

IV. Heterochromatin and Euchromatin

Protein Synthesis

I. General Features

II. Transcription

III. Processing the RNA Transcript into mRNA

Chromosome Replication

II. The Replication Process

III. The Telomere

IV. Types of DNA Damage and DNA Repair

Mendelian Inheritance

I. Autosomal Dominant Inheritance

II. Autosomal Recessive Inheritance

III. X-Linked Dominant Inheritance

IV. X-Linked Recessive Inheritance

VI. Selected Photographs of Mendelian Inherited Disorders

Uniparental Disomy and Trinucleotide Repeats

I. Uniparental Disomy

II. Unstable Expanding Repeat Mutations (Dynamic Mutations)

III. Highly Expanded Repeats Outside the Gene

IV. Moderately Expanded CAG Repeats Inside the Gene

Multifactorial Inherited Diseases

I. Introduction

II. Classes of Multifactorial Traits

III. Factors Affecting Recurrence Risks

IV. Some Common Multifactorial Conditions

Mitochondrial Inheritance

I. Mitochondrial Function

II. The Human Mitochondrial Genome

III. The Protein-Coding Genes

IV. The RNA-Coding Genes

V. Other Mitochondrial Proteins

VI. Mutation Rate

VII. Mitochondrial Inheritance

VIII. Mitochondrial Diseases

Mitosis, Meiosis, and Gametogenesis

I. Mitosis

II. Checkpoints

III. Meiosis

IV. Oogenesis: Female Gametogenesis

V. Spermatogenesis

Chromosome Morphology Methods

I. Studying Human Chromosomes

II. Staining of Chromosomes

III. Chromosome Appearance

IV. Chromosome Nomenclature

Cytogenetic Disorders

I. Numerical Chromosomal Anomalies

II. Structural Chromosomal Abnormalities

III. Summary Table of Cytogenetic Disorders

IV. Selected Photographs of Cytogenetic Disorders

Population Genetics

I. General Features

II. The Hardy-Weinberg Law

III. Hardy-Weinberg and Autosomal Dominant Inheritance

IV. Hardy-Weinberg and Autosomal Recessive Inheritance

V. Hardy-Weinberg and X-Linked Recessive

VI. Summary Table of Hardy-Weinberg Calculations

Developmental Genetics

I. Causes of Human Birth Defects

II. Types of Human Birth Defects

III. Patterns of Human Birth Defects

Determination of the Left/Right (L/R) Axis

V. Determination of the Anterior/Posterior (A/P) Axis

VI. Growth and Differentiation

VII. Formation of the Extracellular Matrix (ECM)

VIII. Neural Crest Cell Migration

IX. Photographs of Birth Defects Associated with Various
Developmental Processes

Metabolic Genetics

I. Introduction

II. Metabolic Genetic Disorders Involving Carbohydrate Pathways

III. Metabolic Genetic Disorders Involving Amino Acid Pathways

IV. Metabolic Genetic Disorders Involving the Urea Cycle Pathway

V. Metabolic Genetic Disorders Involving Transport Pathways

Metabolic Genetic Disorders Involving Degradation Pathways

VII. Summary Tables of Metabolic Genetic Disorders

VIII. Selected Photographs of Metabolic Genetic Disorders

Genetic Testing

I. Genetic Screening

II. Principles of Genetic Screening

III. Types of Genetic Screening

IV. Some Examples of Genetic Screening

Reproductive Risk Assessment

I. Autosomal Dominant Inheritance

II. Autosomal Recessive Inheritance

III. X-Linked Recessive Inheritance

IV. Consanguinity

Index