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AP Biology
Unit 6: Gene Expression and Regulation
6.7 Mutations
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Mutations can occur during DNA replication or through exposure to external agents called
mutagens
Match the point mutation type with its description:
Substitution ↔️ One nucleotide is replaced by another
Insertion ↔️ One or more nucleotides are added
Deletion ↔️ One or more nucleotides are removed
A chromosomal mutation where a section of the chromosome is repeated is called
duplication
In a chromosomal translocation, a segment from one chromosome moves to a non-homologous
chromosome
What is the result of a chromosomal duplication?
ABC → ABCABC
Mutations can only occur during DNA replication.
False
What are the two main causes of mutations?
DNA replication errors and mutagens
In a substitution mutation, one nucleotide is replaced by
another
What are mutations in DNA sequence called?
Changes
What is a point mutation?
Single nucleotide change
Chromosomal mutations involve changes in large segments of
chromosomes
.
True
What happens in a chromosomal inversion?
A section is flipped
Give an example of a substitution mutation.
ATG → ACG
In a chromosomal inversion, the sequence ABC is flipped to
CBA
Classify the different types of mutations based on whether they are point mutations or chromosomal mutations:
1️⃣ Point mutations
2️⃣ Substitution
3️⃣ Insertion
4️⃣ Deletion
5️⃣ Chromosomal mutations
6️⃣ Duplication
7️⃣ Inversion
8️⃣ Translocation
What is a point mutation?
Change at a single nucleotide
An insertion mutation adds nucleotides to a
DNA sequence
.
True
In a duplication mutation, a section of the chromosome is
repeated
What occurs in a translocation mutation?
A chromosome segment moves
What is the primary cause of DNA replication errors?
Mistakes during replication
What is the effect of a neutral mutation?
No effect on gene function
What is the effect of a beneficial mutation?
Enhances gene function
A frameshift mutation occurs when nucleotides are inserted or deleted, altering the
reading frame
of the DNA sequence.
True
During proofreading, DNA polymerase can detect and correct mismatched
nucleotides
What does nucleotide excision repair remove from DNA?
Damaged DNA segments
Steps of DNA repair mechanisms
1️⃣ Proofreading by DNA polymerase
2️⃣ Mismatch repair recognizes errors
3️⃣ Nucleotide excision repair removes damaged segments
4️⃣ Base excision repair corrects individual bases
What happens in a deletion mutation?
Nucleotides are removed
Steps of an inversion mutation
1️⃣ A section of the chromosome is identified
2️⃣ The section is flipped
3️⃣ The flipped section is reattached
Match the type of mutation with its description:
Point Mutation ↔️ Changes at a single nucleotide
Chromosomal Mutation ↔️ Changes in large chromosome segments
Mutagen ↔️ External agent that causes mutations
Mutagens can cause both point and
chromosomal
mutations.
True
A harmful mutation can lead to a non-functional
protein
Match the mutation type with its potential effect:
Substitution ↔️ Neutral, harmful, or beneficial
Insertion ↔️ Often harmful, causing a frameshift
Duplication ↔️ Beneficial by increasing gene expression
What determines the specific impact of a mutation?
Mutation location and gene function
Mismatch repair replaces incorrectly paired nucleotides.
True
Base excision repair detects and removes damaged individual DNA
bases
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