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12-4
What happens when
there is a problem
with the DNA
sequence?
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12–4 Mutations
Kinds of Mutations
Mutations are changes in the genetic
material.
 Many mutations have little or no effect on
gene expression.
 Some mutations are the cause of genetic
disorders.
 Many mutations have a profound effect on
the organism.
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12–4 Mutations
Kinds of Mutations
Kinds of Mutations
Mutations that produce changes in a single
gene are known as gene mutations.
Mutations that produce changes in whole
chromosomes are known as chromosomal
mutations.
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12–4 Mutations
Kinds of Mutations
Gene Mutations include:
 Point mutations a change in one or a few
nucleotides which occur at a single point in
the DNA sequence.
 Point mutations include

substitutions

insertions

deletions
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12–4 Mutations
Kinds of Mutations/Gene
Mutations (3 types)
Substitutions
usually affect no
more than a single
amino acid.
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12–4 Mutations
Kinds of Mutations
Insertions & Deletions
 The effects of insertions and deletions are dramatic.
 The addition or deletion of a nucleotide causes a shift
in the grouping of codons.
 Changes like these are called frameshift mutations.
 Frameshift mutations change every amino acid that
follows the point of the mutation.
 Frameshift mutations can alter a protein so much that it
is unable to perform its normal functions.
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Kinds of Mutations
Gene Mutations (3 types)
In an insertion, an
extra base is
inserted into a base
sequence.
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12–4 Mutations
Kinds of Mutations
In a deletion, the loss of a single base is deleted
and the reading frame is shifted.
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Kinds of Mutations
Chromosomal Mutations
 Chromosomal mutations involve changes in
the number or structure of chromosomes.
 Chromosomal mutations include




deletions
duplications
inversions
translocations.
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12–4 Mutations
12-4 Mutations
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Kinds of Mutations
Deletions involve the loss of all or part of a
chromosome.
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12–4 Mutations
Kinds of Mutations
Duplications produce extra copies of parts of a
chromosome.
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12–4 Mutations
Kinds of Mutations
Inversions reverse the direction of parts of
chromosomes.
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12–4 Mutations
Kinds of Mutations
Translocations occurs when part of one
chromosome breaks off and attaches to another.
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12–4 Mutations
Significance of Mutations
Significance of Mutations
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12–4
A mutation in which all or part of a chromosome
is lost is called a(an)
a. duplication.
b. deletion.
c. inversion.
d. point mutation.
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12–4
A mutation that affects every amino acid
following an insertion or deletion is called a(an)
a. frameshift mutation.
b. point mutation.
c. chromosomal mutation.
d. inversion.
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12–4
A mutation in which a segment of a chromosome
is repeated is called a(an)
a. deletion.
b. inversion.
c. duplication.
d. point mutation.
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12–4
The type of point mutation that usually affects
only a single amino acid is called
a. a deletion.
b. a frameshift mutation.
c. an insertion.
d. a substitution.
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12–4
When two different chromosomes exchange
some of their material, the mutation is called
a(an)
a. inversion.
b. deletion.
c. substitution.
d. translocation.
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It’s ragning cats and dogs outnide
Substitution of g instead of i in raining
Substitution of n instead of s in outside.
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It’s raining cats and frogs dogs outside
Insertion of the word frogs
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It’s raining raining cats and dogs outside
Insertion (duplication) of the word raining
a second time
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It’s raining dogs outside.
Deletion of the word cats and the word
and.
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It’s raining edistuo sgod dna stac.
Inversion of the phrase cats and dogs
outside.
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It’s raining cats anfrogsd dogs outside.
Insertion of the word frogs in the middle of
the word and.
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