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Mutations and Genetic Disorders

Biotechnology · Chapter 11 · 4. Genetics

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Topics 5

  1. Gene (point) mutations and genomic mutations
  2. Chromosomal aberrations: deletion, duplication, inversion and translocation
  3. Euploidy and aneuploidy (monosomy, nullisomy, trisomy, tetrasomy); non-disjunction; polyploidy in plants such as wheat
  4. Syndromes: Turner, Klinefelter and Down
  5. Inborn errors of metabolism: albinism, sickle cell anaemia, phenylketonuria (PKU) and alkaptonuria