Mutation

SCIENCE 10
OBJECTIVES:
• Identify the different types of gene mutation and
chromosomal mutation
• Differentiate gene mutations and chromosome
mutations.
• Explain how mutations may cause changes in the
structure and function of a protein.
• Explain how chromosome mutation leads to disorders.
HEREDITY:
INHERITANCE AND VARIATION
GENE MUTATIONS AND
CHROMOSOMAL MUTATIONS
TYPES OF MUTATIONS
• Now and then cells make mistakes in copying
their own DNA, inserting the wrong base or even
skipping a base as a strand is put together.
• These variations are called mutations, from the

Latin word mutare, meaning “to change.”
• Mutations are heritable changes in genetic

information.
• All mutations fall into two basic categories:
• Those that produce changes in a single

gene are known as gene mutations.
• Those that produce changes in whole

chromosomes are known as chromosomal
mutations.
GENE MUTATIONS
• Mutations that involve changes in one or a few
nucleotides are known as point mutations because they
occur at a single point in the DNA sequence. They
generally occur during replication.
• If a gene in one cell is altered, the alteration can be

passed on to every cell that develops from the original
one.
GENE MUTATIONS
• Point mutations include substitutions, insertions, and deletions.
SUBSTITUTIONS
• In a substitution, one base is changed to a different base.
• Substitutions usually affect no more than a single amino acid, and
sometimes they have no effect at all.
SUBSTITUTIONS
• In this example, the base cytosine is replaced by the base
thymine, resulting in a change in the mRNA codon from CGU
(arginine) to CAU (histidine).
• However, a change in the last base of the codon, from CGU
to CGA for example, would still specify the amino acid arginine.
SUBSTITUTION (one base is substituted for
another)
--- If a substitution changes the
amino acid, it is called a MISSENSE mutation
--- If a substitution does
not change the amino acid, it is called a SILENT mutation
--- If a substitution changes the amino acid to a “stop,” it is
called a NONSENSE mutation.
DELETION (a base is lost/deleted)
INSERTION (an extra base is added/ inserted)
(Deletion & insertion may cause what’s called a
FRAMESHIFT mutation, meaning the reading
“frame” changes, thus changing the amino acid
sequence from this point forward).
INSERTIONS AND DELETIONS
• Insertions and deletions are also called frameshift mutations
because they shift the “reading frame” of the genetic message.
• Frameshift mutations can change every amino acid that follows
the point of the mutation and can alter a protein so much that it is
unable to perform its normal functions.
• Chromosomal mutations involve changes in the number or structure of
chromosomes.
• These mutations can change the location of genes on chromosomes and can even
change the number of copies of some genes.
• There are four types of chromosomal mutations: deletion, duplication, inversion, and
translocation.
• Deletion involves the loss of all or part of a chromosome.
• Duplication produces an extra copy of all or part of a
chromosome.
• Inversion reverses the direction of parts of a
chromosome.
• Translocation occurs when part of one chromosome

breaks off and attaches to another.
Disorders caused by a mutation:
a. Cri du chat
b. Down’s syndrome
c. Edwards syndrome
d. Jacobsen syndrome
e. Klinefelter’s syndrome
f. Turner’s syndrome
• “Cri du chat” is caused by the deletion
of part of the short arm of chromosome
“Cri du chat” is French, and the
condition is so named because affected
babies make high-pitched cries that
sound like a cat. Affected individuals
have wide-set eyes, a small head and
jaw, are moderately to severely
mentally retarded, and very short.
• Down’s syndrome is usually
caused by an extra copy of
chromosome 21(trisomy 21).
Characteristics include
decreased muscle tone, stockier
build, asymmetrical skull,
slanting eyes and mild to
moderate mental retardation.
• Edwards syndrome, which is the second
most common trisomy after Down’s
syndrome, is a trisomy of chromosome 18.
Symptoms include mental and motor
retardation and numerous congenital
anomalies causing serious health
problems.
• They have a characteristic hand
appearance with clenched hands and
overlapping fingers.
• Jacobsen syndrome is also
called terminal 11q deletion
disorder. This is a very rare
disorder. Those affected have
normal intelligence or mild
mental retardation, with poor or
excessive language skills. Most
have a bleeding disorder called
Paris-Trousseau syndrome.
• Klinefelter’s syndrome (XXY). Men
with this condition are usually sterile
and tend to have longer arms and
legs and to be taller than their peers.
They are often shy and quiet and
have a higher incidence of speech
delay.
• Turner’s syndrome (X instead of XX or
XY). Female sexual characteristics are
present but underdeveloped. They often
have a short stature, low hairline,
abnormal eye features and bone
development and a “caved-in”
appearance to the chest

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SCIENCE 10

• These variations are called mutations, from the

• Mutations are heritable changes in genetic

• Those that produce changes in a single

• Those that produce changes in whole

• If a gene in one cell is altered, the alteration can be

• Translocation occurs when part of one chromosome

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