Mutations
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Transcript of Mutations
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AP Biology 2007-2008
Mutations
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AP Biology
When do mutationsaffect the nextgeneration?
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
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AP Biology
Point mutation leads to Sickle cell anemiaWhat kind of mutation?
Missense!
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AP Biology
Sickle cell anemia Primarily Africans
recessive inheritance pattern strikes 1 out of 400 African Americans
hydrophilicamino acid
hydrophobic amino acid
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AP Biology
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?
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AP Biology
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
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AP Biology
Effect on LungsChloride channeltransports chloride through protein channel out of cellOsmotic effects: H2O follows Cl-airway
Cl-
H2O
Cl-
H2O
mucus secreting glands
bacteria & mucus build up
thickened mucus hard to secrete
normal lungs
cystic fibrosis
cells lining lungs
Cl- channel
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AP Biology
Deletion leads to Cystic fibrosis
loss of oneamino acid
delta F508
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AP Biology 2007-2008
What’s the value ofmutations?