12-4 Mutations
12–4 Mutations
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12-4 Mutations
What are mutations?
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12-4 Mutations
Mutations are changes in the genetic material.
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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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Kinds of Mutations
Gene Mutations
Gene mutations involving a change in one or a few nucleotides are known as point mutations because they occur at a single point in the DNA sequence.
Point mutations include substitutions, insertions, and deletions.
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Kinds of Mutations
Substitutions usually affect no more than a single amino acid.
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Kinds of Mutations
The effects of insertions or deletions are more dramatic.
The addition or deletion of a nucleotide causes a shift in the grouping of codons.
Changes like these are called frameshift mutations.
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Kinds of Mutations
Frameshift mutations may 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
In an insertion, an extra base is inserted into a base sequence.
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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, and translocations.
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Kinds of Mutations
Deletions involve the loss of all or part of a chromosome.
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Kinds of Mutations
Duplications produce extra copies of parts of a chromosome.
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Kinds of Mutations
Inversions reverse the direction of parts of chromosomes.
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Kinds of Mutations
Translocations occurs when part of one chromosome breaks off and attaches to another.
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Significance of Mutations
Significance of Mutations
Many mutations have little or no effect on gene expression.
Some mutations are the cause of genetic disorders.
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Significance of Mutations
Beneficial mutations may produce proteins with new or altered activities that can be useful.
Polyploidy is the condition in which an organism has extra sets of chromosomes.
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