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Mutations

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Mutations. Mutations . Point mutations single base change base-pair substitution silent mutation no amino acid change redundancy in code missense change amino acid nonsense change to stop codon. When do mutations affect the next generation? . Point mutation leads to Sickle cell anemia.

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mutations
Mutations
  • Point mutations
    • single base change
    • base-pair substitution
      • silent mutation
        • no amino acid change
        • redundancy in code
      • missense
        • change amino acid
      • nonsense
        • change to stop codon

When do mutationsaffect the nextgeneration?

point mutation leads to sickle cell anemia
Point mutation leads to Sickle cell anemia

What kind of mutation?

Missense!

sickle cell anemia
Sickle cell anemia
  • Primarily Africans
    • recessive inheritance pattern
    • strikes 1 out of 400 African Americans

hydrophilicamino acid

hydrophobic amino acid

mutations1
Mutations
  • Frameshift
    • shift in the reading frame
      • changes everything “downstream”
    • insertions
      • adding base(s)
    • deletions
      • losing base(s)

Where would this mutation cause the most change:beginning or end of gene?

cystic fibrosis
Cystic fibrosis
  • Primarily whites of European descent
    • strikes 1 in 2500 births
      • 1 in 25 whites is a carrier (Aa)
    • normal allele codes for a membrane protein that transports Cl- across cell membrane
      • defective or absent channels limit transport of Cl- (& H2O) across cell membrane
      • thicker & stickier mucus coats around cells
      • mucus build-up in the pancreas, lungs, digestive tract & causes bacterial infections
    • without treatment children die before 5; with treatment can live past their late 20s
effect on lungs

Chloride channel

transports chloride through protein channel out of cell

Osmotic effects: H2O follows Cl-

Effect on Lungs

normal lungs

airway

Cl-

Cl- channel

H2O

cells lining lungs

cystic fibrosis

Cl-

H2O

bacteria & mucus build up

thickened mucus hard to secrete

mucus secreting glands

deletion leads to cystic fibrosis
Deletion leads to Cystic fibrosis

delta F508

loss of oneamino acid

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