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MutatioMutationsns
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Gene Mutations
• Change in the nucleotide sequence of a gene
• May only involve a single nucleotide
• May be due to copying errors, chemicals, viruses, etc.
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Types of Gene Mutations
• Include:–Point Mutations–Substitutions– Insertions–Deletions–Frameshift
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Point Mutation
• Change of a single nucleotide
• Includes the deletion, insertion, or substitution of ONE nucleotide in a gene
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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 mutation change amino acid
Nonsense mutation 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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Point Mutation
•Sickle Cell disease is the result of one nucleotide substitution
• Occurs in the hemoglobin gene
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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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Frameshift Mutation
• Inserting or deleting one or more nucleotides
• Changes the “reading frame” like changing a sentence
•Proteins built incorrectly
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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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Frameshift Mutation
• Original:–The fat cat ate the wee rat.
• Frame Shift (“a” added):– The fat caa tet hew eer at.
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Amino Acid Sequence Changed
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Gene Mutation Animation
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AP Biology
Deletion leads to Cystic fibrosis
loss of oneamino acid
delta F508
Cystic fibrosis is a disease passed down through families that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body.
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AP Biology
Hemophilia Individuals blood does not clot
normally.