Human Genetics

Human genetics is the scientific study of inheritance as it occurs in human beings, exploring the mechanisms of heredity, genetic variation, and the role of genes in health and disease. As a specialized field within genetics and genomics, it investigates how traits and disorders are passed from one generation to the next by analyzing DNA, genes, and chromosomes. This discipline is fundamental to modern medicine, providing critical insights into the diagnosis of congenital conditions, understanding predispositions to complex diseases like cancer and heart disease, and paving the way for personalized therapies and genetic counseling.

1. Introduction to Human Genetics
   1. Historical Perspectives
      1. Mendel's Laws of Inheritance
         1. Law of Segregation
         2. Law of Independent Assortment
         3. Law of Dominance
      2. Discovery of DNA as Hereditary Material
         1. Early Theories of Heredity
         2. Identification of Nucleic Acids
         3. Griffith's Transformation Experiment
         4. Avery-MacLeod-McCarty Experiment
         5. Hershey-Chase Experiment
         6. Watson and Crick Double Helix Model
      3. Human Genome Project
         1. Goals and Timeline
         2. Major Achievements
         3. Impact on Modern Genetics Research
   2. Fundamental Concepts
      1. Gene Structure and Function
         1. Definition of Gene
         2. Gene Components
         3. Gene Families
      2. Alleles and Genetic Variation
         1. Definition of Allele
         2. Multiple Alleles
         3. Wild-Type vs Mutant Alleles
      3. Chromosomal Location
         1. Definition of Locus
         2. Gene Mapping
         3. Synteny
      4. Genotype and Phenotype Relationships
         1. Genotype Definition
         2. Phenotype Definition
         3. Genotype-Phenotype Correlation
         4. Environmental Influences on Phenotype
      5. Dominance Patterns
         1. Complete Dominance
         2. Incomplete Dominance
         3. Codominance
         4. Overdominance
      6. Zygosity States
         1. Homozygous Dominant
         2. Homozygous Recessive
         3. Heterozygous
         4. Compound Heterozygous
   3. Human Genome Organization
      1. Genome Structure and Complexity
         1. Genome Size
         2. Gene Number and Density
         3. Repetitive DNA Elements
         4. Transposable Elements
      2. Chromosomal Organization
         1. Nuclear Genome
         2. Mitochondrial Genome
         3. Chromosome Structure
      3. Coding and Non-coding Sequences
         1. Protein-Coding Genes
         2. Exons and Introns
         3. Regulatory Elements
         4. Non-coding RNAs
         5. Pseudogenes
         6. Intergenic Regions