Human Genetics: Concise Handbook in a Storytelling Style (Paperback) (ISBN-13: 9798286396801)

1. The Book of Life - An Introduction to Genetics

• 1.1 What is Genetics? The Blueprint of All Life
• 1.2 DNA: The Language of Heredity
• 1.3 Genes, Chromosomes, and the Genome
• 1.4 Historical Giants in Genetics: Mendel to Modern Era

2. DNA - The Molecular Script of Life
Story: Imagine DNA as a tightly written book, with each chapter representing a gene, each page a codon
2.1 DNA Structure and Replication

• 2.1.1 Double Helix, Nucleotides, Base Pairing
• 2.1.2 DNA Replication: Proofreading and Repair
• 2.1.3 Mutations: The Typos in the Genetic Script

2.2 RNA and Protein Synthesis - The Translation of Ideas

• 2.2.1 Types of RNA (mRNA, tRNA, rRNA)
• 2.2.2 Transcription and Post-Transcriptional Modifications
• 2.2.3 Translation and the Genetic Code
• 2.2.4 Clinical Insight: Sickle Cell Disease, Thalassemia

3. The Chromosome Kingdom
Story: Chromosomes as scrolls in the palace library of the nucleus
3.1 Chromosome Structure and Classification

• 3.1.1 Karyotyping and Banding Techniques
• 3.1.2 Chromosome Number and Types (Autosomes, Sex Chromosomes)

3.2 Cell Division: The Cycle of Genetic Life

• 3.2.1 Mitosis - For Body Growth
• 3.2.2 Meiosis - For Generational Continuity
• 3.2.3 Nondisjunction: Misdistribution in the Royal Scrolls

4. Patterns of Inheritance - The Family Stories
Story: Genetics passed down like a family-owned heirloom
4.1 Mendelian Inheritance

• 4.1.1 Autosomal Dominant and Recessive
• 4.1.2 Sex-linked Inheritance
• 4.1.3 Punnett Squares and Pedigrees
• 4.1.4 Clinical Insight: Marfan Syndrome, Hemophilia

4.2 Non-Mendelian Inheritance

• 4.2.1 Codominance, Incomplete Dominance
• 4.2.2 Mitochondrial Inheritance - Maternal Lineage
• 4.2.3 Genomic Imprinting and Anticipation
• 4.2.4 Clinical Insight: Prader-Willi, Fragile X Syndrome

5. Mutations - The Plot Twists in the Genetic Tale

• 5.1 Types of Mutations: Point, Frameshift, Silent, Nonsense
• 5.2 Mutagenic Agents: Radiation, Chemicals, Viruses
• 5.3 DNA Repair Mechanisms
• 5.4 Clinical Insight: Cystic Fibrosis, Xeroderma Pigmentosum

6. Chromosomal Disorders - Royal Errors in the Genome Library
Story: Imagine mismatched scrolls leading to dysfunctional messages in the kingdom

• 6.1 Numerical Abnormalities: Trisomies, Monosomies
  • 6.1.1 Down Syndrome (Trisomy 21)
  • 6.1.2 Edwards and Patau Syndromes
  • 6.1.3 Turner and Klinefelter Syndromes
• 6.2 Structural Abnormalities: Translocations, Deletions, Inversions
  • 6.2.1 Robertsonian and Reciprocal Translocations
  • 6.2.2 Cri-du-chat Syndrome, Philadelphia Chromosome

7. Population Genetics - The Story of the Tribe
Story: Genes traveling across generations like cultural traits in tribes
8. Genetic Screening and Counseling - Preventive Wisdom
Story: The Oracle of Genes advises parents and patients
9. Cancer Genetics - The Rebellion of Cells
Story: Rogue cells staging a coup against the body
10. Molecular Techniques in Genetics - The Tools of Discovery
Story: The modern wizardry to decipher genetic secrets
11. Gene Therapy and Genetic Engineering - Rewriting the Script
12. Clinical Genetics in Practice - The Physician's Guide


Author: Uthayasooriya Amarasena
ISBN-13: 9798286396801
Publisher: Independently Published
Language: English
Published: 06/03/2025
Pages: 252
Format: Paperback
Weight: 0.75lbs
Size: 9.00h x 6.00w x 0.53d