General Principles of Medical Genetics

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• Overview of Genetics
  • Structure
    • Structure reference
  • Gene Function
  • Gene function references
  • Epigenetic factors
  • Traits and Inheritance Patterns
    • Construction of a family pedigree
  • Key Points

• Single-Gene Defects
  • Reference
  • Autosomal Dominant
  • Autosomal Recessive
  • X-Linked Dominant
  • X-Linked Recessive

• Factors Affecting Gene Expression
  • Penetrance and expressivity
  • Sex-limited inheritance
  • Genomic imprinting
  • Codominance
  • Chromosomal inactivation
  • Key Points

• Multifactorial (Complex) Inheritance

• DNA Variants and Mutations
  • Mutations and polymorphisms
  • Mosaicism
  • Extra or missing chromosomes
  • Uniparental disomy
  • Chromosomal translocation
  • Triplet repeat disorders (trinucleotide repeat disorders)
  • Anticipation
  • Key Points
  • Reference

• Mitochondrial DNA Abnormalities
  • Key Points
  • Reference

• Genetic Diagnostic Technologies

• Clinical Applications of Genetics
  • Diagnosis
  • Genetic Screening
  • Treatment
    • Pharmacogenomics
    • Gene therapy
  • Key Points

• Ethical Controversies in Genetics