Genetics, populations, evolution and ecosystems Flashcards

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1
Q

Genetic mutations
- Insertion

A
  • Causes a frameshift
  • When a nucleotide is randomly
    inserted into DNA sequence
  • Affects function of polypeptide

Cause Huntignton’s Disease

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2
Q

Genetic mutations
- Substitution

A
  • Where a DNA base/ nucleotide is swapped for a different one
  • Silent substitution alters amino acid sequence
  • Missense substitution alters single amino acid
  • Nonsense substitution creates a premature stop codon

Cause Sickle Cell Anemia

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3
Q

Genetic mutations
- Deletion

A
  • Causes a frameshift
  • A nucleotide is randomly deleted
  • Affects function of polypeptide

Cause Cystic Fibrosis

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4
Q

Genetic mutations
- Inversion

A
  • A single gene is cut into 2 pieces, inverted 180° and rejoined
  • Results in non functional protein

Cause Haemophilia A

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5
Q

Genetic mutations
- Duplication

A
  • One or more bases are duplicated in the DNA sequence
  • Original gene is not changed

Cause Charcot- Marte Tooth Disease

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6
Q

Genetic mutations
- Translocation

A
  • A section of a chromosome is added to another chromosome which is not its homologous partner
  • Philadelphia chromosome (22) found in Leukemia Cancer

Cause Cancer, Infertility and Down Syndrome

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