Genetic variation end human diseases - how do mutation arise?

3 important questions on Genetic variation end human diseases - how do mutation arise?

Why are de novo mutations needed?


  • Crucial for evolution
  • most of the mutations are neutral
  • the others cause disoders or are benifical

Why do gentic disease have a constant prevalence (affected people in population)?

  • Novel variants in individual genomes
  • reproduction creates genetic variantion
  • genetic variantion drives adaptation and evolution
  • and may cause genetic diseases

Single nucleotide polymorphisms (SNP)?

Is the variant of the allel, so 3 different options per allel.
the most common ones is de SNP

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