GENETIC
MUTATIONS
WHAT ARE GENETIC
MUTATIONS?
• A mutation is a change in the DNA sequence of
an organism.
• Changes in the nucleotide sequence of DNA
• May occur in somatic cells (aren’t passed to
offspring)
• May occur in gametes (eggs & sperm) and be
passed to offspring
CAUSES OF MUTATION
• Mutations can result from:
• Errors in DNA replication during cell division
• Exposure to mutagens
• A viral infection.
• Most genes are relatively stable and mutation is
a rare event.
ARE MUTATIONS HELPFUL
OR HARMFUL?
• Mutations happen regularly
• Almost all mutations are neutral
• Chemicals & UV radiation cause
mutations
• Many mutations are repaired by
enzymes
ARE MUTATIONS HELPFUL
OR HARMFUL?
• Some type of skin cancers and
leukemia result from somatic
mutations
• Some mutations may improve an
organism’s survival (beneficial)
TYPES OF MUTATIONS
1. CHROMOSOME
MUTATION
2. GENE MUTATION
1. CHROMOSOME
MUTATIONS
• May Involve:
• Changing the structure of
a chromosome
• Change number of
chromosome
• The loss or gain of part
of a chromosome
CHROMOSOME MUTATIONS
• Structural change:
• Deletion
• Inversion
• Translocation
• Duplication
• Number change:
• Nondisjunction/disjuction
DELETION
• Due to breakage
• A piece of a
chromosome is lost
INVERSION
• Chromosome
segment
breaks off
• Segment flips
around
backwards
• Segment
reattaches
DUPLICATION
• Occurs when a
gene sequence
is repeated
TRANSLOCATION
• Involves two
chromosomes that
aren’t homologous
• Part of one
chromosome is
transferred to
another
chromosomes
NONDISJUNCTION
• Failure of chromosomes to
separate during meiosis
• Causes gamete to have too many
or too few chromosomes
• Examples:
• Aneuploidy
• polyploidy
CHROMOSOME
MUTATION
ANIMATION
GENE MUTATIONS
• Involve changes
• To the DNA sequence of a
single gene
• Change in the nucleotide
sequence of a gene
• May only involve a single
nucleotide
• May be due to copying errors,
chemicals, viruses, etc.
TYPES OF GENE
MUTATIONS
• Include:
• Point Mutations
• Frameshift
POINT MUTATION
• Change of a single nucleotide
• Includes the deletion, insertion, or
substitution of ONE nucleotide in a
gene
• Examples:
• Silent Mutations
• Missense Mutations
• Nonsense Mutations
FRAMESHIFT
MUTATION
• Inserting or deleting one or
more nucleotides
• Changes the “reading frame”
like changing a sentence
• Proteins built incorrectly
AMINO ACID
SEQUENCE CHANGED
GENE MUTATION
ANIMATION