GENETIC MUTATION

MUTATION
• Mutations are changes
in the genetic
sequence, and they are
a main cause of
diversity among
organisms.
• Many kinds of gene
mutations can occur,
especially during DNA
replication.
Chromosomal
mutations are more
likely to occur during
Meiosis.
THERE ARE TWO TYPES OF MUTATIONS THAT
CAN OCCUR IN GAMETE CELLS
1. Genetic Mutation is a permanent
change is DNA sequence that’s
makes up a gene.
2. Chromosomal mutation occurs at the
chromosome level resulting in gene
deletion, duplication or rearrangement
that may occur during the cell cycle
and meiosis. It maybe caused by
parts of chromosomes breaking off or
rejoining incorrectly.
• Mutation may be induced by
factors called mutagens.
• Mutagens are commonly in the
form of toxic chemicals, and
harmful radiation. Sometimes,
mistakes occur in DNA
replication, mitosis, and meiosis.
a) UV rays
b) X rays
c) Chemicals such as pesticides.
 MUTATIONS CAN BE CAUSED BY
SEVERAL FACTORS:
• 1. Replication errors can
cause mutations.
• 2. Mutagens, such as UV rays
and chemicals, can cause
mutations
• 3. Some cancer drugs use
mutagenic properties to kill
cancer cells.
• Rachel Carson,
ecologist who
warned about use of
pesticides causing
mutations in song
birds.
MUTATIONS AFFECT THE CODE FOR PROTEINS

• Proteins are key to

everything cells do.
• There are both
Functional (enzymes)
and structural
proteins
 END RESULT: MUTATIONS MAY OR MAY NOT AFFECT THE
ORGANISM.

• Some gene mutations change blockage

phenotype. (Structure or function) Without

• Examples of changes from a gene Coronary artery
disease
mutation:
no blockage
– A mutation may cause a premature stop
codon.
– A mutation may change protein shape
or the active site.
– A mutation may change gene regulation. Coronary artery disease

Cystic Fibrosis is
caused by
a gene deletion
(frameshift)
 MISSENSE MUTATION/ POINT MUTATION

• Missense
mutation/ Point
mutation
substitutes one
nucleotide for
another.
4 TYPES OF CHROMOSOMAL CHANGE
Deletion
• Frameshift mutation- insertion or deletion of nucleotide.
Causes bigger changes! Can alter protein- making it unable to
perform normal functions.
• A frameshift mutation inserts or deletes a nucleotide in the DNA
sequence.
DUPLICATION
• Chromosomal mutations affect
many genes.
• Chromosomal mutations may
occur during crossing over
– Chromosomal mutations affect
many genes.
– Gene duplication results from
unequal crossing over.
TRANSLOCATION

• Translocation results
from the exchange of
DNA segments between
non homologous
chromosomes.
INVERSIONS
• Abnormalities in chromosomal structure may occur
during meiosis. The normal process of crossing-over
and recombination may be affected, such that
chromosomes break and reunites the wrong
segments.
• Changes that affect the structure of
chromosomes can cause problems with growth,
development, and function of the body’s
systems. These changes can affect many genes
along the chromosome and disrupt the proteins
made from these genes.
 “ CRI DU CHAT ”
• “Cri du chat” is caused by the
deletion of part of the short arm
of chromosome 5. “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
• 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
• 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.
About 99% die in infancy. However,
those who live past their first
birthday, usually are quite healthy
thereafter. They have a characteristic
hand appearance with clenched
hands and overlapping fingers.
 JACOBSEN SYNDROME
• 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.
 HUMAN KARYOTYPING
• is the process of pairing and
ordering all the chromosomes
of an organism, thus providing
a genome-wide snapshot of
an individual's
chromosomes. Karyotypes ar
e prepared using standardized
staining procedures that
reveal characteristic structural
features for each
chromosome.
GENETIC ENGINEERING
• Genetic engineering is the
process of using recombinant
DNA (rDNA) technology to
alter the genetic makeup of
an organism. Traditionally,
humans have manipulated
genomes indirectly by
controlling breeding and
selecting offspring with
desired traits.