Human Genetics

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

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

• 2.2.1 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

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

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

• 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

• 4.2.1 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

• 5.1 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

• 6.1 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