Unit 3021: Genetics and Genomic Technologies

1. Introduction to Genetic Variation

• Definition and importance of genetic variation
• Types of genetic variations
  • Single nucleotide polymorphisms (SNPs)
  • Insertions and deletions
  • Rearrangements (inversions, translocations)
• Sources of genetic variation
  • Mutation
  • Recombination
  • Gene flow
• Significance of genetic variation in populations
  • Adaptation
  • Disease susceptibility

2. Mendelian Genetics

• Gregor Mendel’s contributions
• Mendel’s laws
  • Law of segregation
  • Law of independent assortment
• Punnett squares
  • Monohybrid crosses
  • Dihybrid crosses
• Predicting inheritance of traits
  • Dominant and recessive alleles
  • Genotype vs phenotype

3. Chromosomal Basis of Inheritance

• Genes and chromosomes relationship
• Chromosomal mapping
• Sex-linked traits
  • X-linked and Y-linked inheritance
• Gene linkage and recombination frequency
• Chromosomal abnormalities
  • Aneuploidies (e.g., Down syndrome, Turner syndrome)
  • Structural abnormalities (deletions, duplications)

4. Non-Mendelian Inheritance Patterns

• Incomplete dominance
• Codominance
• Multiple alleles
  • Example: ABO blood group
• Polygenic inheritance
  • Traits controlled by multiple genes
• Environmental influences on gene expression

5. Genetic Mutations and Their Effects

• Types of genetic mutations
  • Point mutations (missense, nonsense, silent)
  • Insertions and deletions (frameshift)
  • Chromosomal mutations
• Effects on protein synthesis
• Phenotypic consequences
• Role in genetic disorders
  • Examples of inherited diseases caused by mutations

6. Genetic Screening and Counseling

• Purpose and methods of genetic screening
  • Prenatal and newborn screening
  • Carrier testing
• Genetic counseling process
  • Risk assessment
  • Communication of genetic information
• Ethical, legal, and social considerations
• Impact on individuals, families, and society

7. Population Genetics and Evolution

• Genetic variation within populations
• Mechanisms affecting allele frequencies
  • Gene flow
  • Genetic drift
  • Natural selection
• Mutation as a source of variation
• Hardy-Weinberg equilibrium
• Evolutionary adaptation

8. Human Genome Project and Genomic Technologies

• Overview of the Human Genome Project
  • Goals and achievements
• Advances in genomic technologies
  • Next-generation sequencing (NGS)
  • CRISPR-Cas9 gene editing
• Applications in personalized medicine
• Future prospects and challenges