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MUTATION

MUTATION is the changing of the


genetic structure resulting to
variation among species that may be
transmitted to the following
generations. It is caused by the
alteration of single base units in DNA,
or the deletion, insertion or
rearrangement of larger section of
genes or chromosomes.

TYPES OF
MUTATION

GERM MUTATION
can be passed to offspring

SOMATIC MUTATIONS
are not passed to offspring

EFFECTS OF
MUTATION

Most are harmless (neutral or


beneficial), though some will
cause disruption of normal
biological activities due to
dramatic changes in protein
structures (creation of harmful
proteins of defective
malfunctioning proteins.)

Harmful mutations
cause genetic
disorder.
Beneficial mutations
may be useful in a

Point Mutations
Gene mutations
involving one or few
nucleotides.
Occur at single point in

Insertion- an extra base is


inserted into the DNA sequence.
Deletion- a base is removed
from the DNA sequence.
Substitution- one base is
changed to another.

CHROMOSOMI
AL MUTATION

A CHROMOSOME MUTATION
is
a change in the structure or
arrangement of the chromosomes.
a change in the location of a gene on a
chromosome.
a change in the number of copies of
gene.

Chromosomal mutations
may be classified into
the following types:
euploidy, aneuploidy,
and structural changes.

Euploidy
it involves changes
in the number of
whole sets of
chromosomes.

Monoploidy (X)
Monoploids have a set of
chromosomes. Meiosis is very abnormal.
Synapsis is absent because of the
absence of homologous pair, hence no
bivalents are formed. Only univalent (I)
are formed, which may lag behind
during Anaphase I. Sister chromatids
may segregate at Meiosis I.

Monoploids
are
almost
completely sterile since the
gametes produced do not
usually contain a complete
genome. By chance, haploid
gametes may be formed and if
fertilization occurs, a diploid
condition is restored.

Polyploidy

Polyploids
have
more
than
two
complete sets of chromosomes. However,
in some polyploids, the genomes are
identical, hence the term autopolypoids.
In others, there are multiple copies of
different genomes; these polyploids are
called allopolyploids. To differentiate
autopolypoids from allopolyploids, it is
necessary to represent genomes using
capital letters.

Hence, the genomes of an


autotriploid may be represented
as AAA, while that of an
allotetraploid may be AABB.
Polyploids with more than four
genomes are called higher
polyploids.

Aneupliody
consist of mutations

that
involve changes in the number of
chromosomes in a genome. This
can be due to either an addition
or loss of one or more whole
chromosomes.

Structural
Changes/Aberrations
Involving Parts of One or
More Chromosomes
At times, mutations may involve

changes in the genetic material that


are extensive enough to alter only the
structure of the chromosome without
causing any change in the number

Structural
chromosomal
mutations may be considered
homozygous if both members
of a homologous pair have the
same
structural
changes.
Otherwise, the mutation is
considered heterozygous.