Prepared by: Ma’am Mariam

 Changes in the genes can

Changes in the
occur for a variety of reasons.
nucleotide sequence
Mutation may be induced by
of DNA
factors called mutagens.
May occur in somatic Mutagens are commonly in the
cells (aren’t passed to form of toxic chemicals, and
offspring)
harmful radiation.
May occur in gametes
(eggs & sperm) and  Sometimes, mistakes occur in
be passed to offspring DNA replication, mitosis, and
meiosis.
Some type of skin
cancers and leukemia
result from somatic
mutations

Some mutations may

improve an organism’s
survival (beneficial)
Gene Mutation
 Change of a
single
nucleotide
 Gene Mutation

 Inserting or deleting
one or more
nucleotides
 Changes the
“reading frame” like
changing a sentence
 Proteins built
incorrectly
Chromosome Mutation

Due to breakage,
a piece of
chromosome is
lost
 Chromosome Mutation

 Chromosome
segment breaks off
 Segment flips
around backwards
 Segment
reattaches
 Chromosome Mutation

Occurs when a gene

sequence is repeated
Chromosome Mutation
 Failure of
chromosomes
to separate
during meiosis
 Causes
gamete to
have too
many or too
few
chromosomes
 Chromosome Mutation

 Involves two
chromosomes that
aren’t homologous
 Part of one chromosome
is transferred to another
chromosomes
Genetic Disorders

 is caused by the deletion

of part of the short arm of
chromosome 5.
 affected babies make
high-pitched cries that
sound like a cat. They
have wide-set eyes,
a small head and jaw, are
moderately to severely
mentally
Genetic Disorders

 Usually caused by an extra

copy of chromosome
21(trisomy21).
 Characteristics include
decreased muscle tone,
stockier build, asymmetrical
skull, slanting eyes and
mild to moderate mental
retardation.
Genetic Disorders

 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.
Genetic Disorders

 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.
Genetic Disorders

 (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.
Genetic Disorders

 (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