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Mutations

Types of mutations:
Point Mutations
Frameshift Mutations
Chromosomal Mutations

What is the definition of

mutation?
-A mutation is a change or any
mistake in DNA sequence

Point mutations:
Point mutations are single-base changes in
a genes DNA sequence.
Two forms:
Transition: one pyrimidine (T or C)
substituted for the other pyrimidine or one
purine substituted for the other purine (A
or G).
Transversion: purine substituted for
pyrimidine or vice versa

Effect's of Point Mutation

Fig 4.4

These include:

-Missense mutations

-Nonsense mutations

-Silent mutations

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Point mutations: Missense

mutation
Missense mutation: Change in a single
amino acid within a protein.
This does change in protein.
Example:
Normal: THE DOG BIT THE CAT
Mutated: THE DOG BIT THE CAR

Point Mutations: Nonsense

mutation
Nonsense mutation: Nonsense mutations
make a premature stop codon (UAA, UAG
UGA) that causing the protein to be
shortened.
Nonsense mutation does change the
resulting protein.
Example:
Normal: THE DOG BIT THE CAT
Mutated: THE DOG BIT

Point Mutations: Silent mutation

Silent mutation: Silent mutations change the
DNA sequence(not the amino acid sequence).
Silent mutation does not change the resulting
protein and no effect on an organism.
Example:
Normal: THE DOG BIT THE CAT
Mutated: THE DOG BIT THE KAT

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Frameshift Mutations
Frameshift Mutations: Frameshift Mutation is
insertion or deletion of one or more bases into or from
the DNA sequence.
This effect on every amino acid in the protein and it
makes protein nonfunctional.
Example:

Frameshift Mutation:

Chromosomal Mutations:
4 types of chromosomal Mutations:
Translocation: A chromosomal segment is transferred
to a new position on the same or another chromosome
Deletion: the loss or absence of one or more
nucleotides from a chromosome
Inversion: Part of a chromosome breaks out and is
reinserted backwards
Insertion: Part of the chromosome is broken off and
attaches to the sister chromatid.

Chromosome Mutations
May Involve:
Changing the structure
of a chromosome
The loss or gain of part of
a chromosome

Chromosome Mutations
Five types exist:
Deletion
Inversion
Translocation
Nondisjunction
Duplication

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Deletion
Due to breakage
A piece of a chromosome is lost

Duplication
Occurs when a gene sequence is repeated

Inversion
Chromosome segment breaks off
Segment flips around backwards
Segment reattaches

Translocation
Involves two chromosomes that arent
homologous
Part of one chromosome is transferred to
another chromosomes

Translocation

Nondisjunction
Failure of chromosomes to separate
during meiosis
Causes gamete to have too many or too
few chromosomes
Disorders:
Down Syndrome three 21st chromosomes
Turner Syndrome single X chromosome
Klinefelters Syndrome XXY chromosomes

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Causes of Genetic Mutations:

Sometimes it happens for no reason
(Spontaneous Mutations).
Environmental Causes:
-UV light
- Radiation
- X-rays
-Some Chemicals

Genetic Disorders: