AP BioIogy 2007-2008

Mutations
AP BioIogy
When do mututions
uffect the net
generution?
Mutations
Point mutations
singIe base change
base-pair
substitution
siIent mutation
no amino acid change
redundancy in code
missense
change amino acid
nonsense
change to stop codon
AP BioIogy
Point mutation Ieads to SickIe ceII anemia
What kind of mutation?
issense|
AP BioIogy
SickIe ceII anemia
PrimariIy Africans
recessive inheritance pattern
strikes 1 out of 400 African Americans
hydrophiIic
amino acid
hydrophobic
amino acid
AP BioIogy
Mutations
Frameshift
shift in the reading
frame
changes everything
"downstream"
insertions
adding base(s)
deIetions
Iosing base(s)
Where wouId this mutution
cuuse the most chunge:
beginning or end of gene?
AP BioIogy
Cystic fibrosis
PrimariIy whites of
European descent
strikes 1 in 2500 births
1 in 25 whites is a carrier (Aa)
normaI aIIeIe codes for a membrane protein
that transports CI
-
across ceII membrane
defective or absent channeIs Iimit transport of CI
-
(& H
2
O)
across ceII membrane
thicker & stickier mucus coats around ceIIs
mucus buiId-up in the pancreas, Iungs, digestive tract &
causes bacteriaI infections
without treatment chiIdren die before 5;
with treatment can Iive past their Iate 20s
AP BioIogy
Effect on Lungs
ChIoride channeI
transports chIoride through
protein channeI out of ceII
Osmotic effects: H
2
O foIIows CI
-
airway
CI
-
H
2
O
CI
-
H
2
O
mucus secreting gIands
bacteria & mucus buiId up
thickened mucus
hard to secrete
normaI Iungs
cystic fibrosis
ceIIs Iining
Iungs
CI
-
channeI
AP BioIogy
DeIetion Ieads to Cystic fibrosis
Ioss of one
amino acid
deIta F508
AP BioIogy 2007-2008
Whut's the vuIue of
mututions?