What is the relationship between

chromosome, DNA, and genes?

Chromosome contains DNA

Genes are sequence of DNA

nucleotides

Genes are located in chromosome.

 CHROMOSOMES
A chromosome is a package of DNA
with part or all of the genetic material
of an organism. In most
chromosomes, the very long thin DNA
fibers are coated with nucleosome
forming packaging proteins.
M______N
M U TAT I O N
 MUTATION
Mutation is a change in the
base sequence of DNA, it
may affect only one gene or
they may affect the whole
chromosomes.
CHROMOSOMAL
MUTATION
 MELC # 16

Explain how mutations

may cause changes in the
structure and function of
a protein.
?
 OBJECTIVES
At the end of the lesson,learners are expected to:
1. Define and describe chromosomal mutation,

2. Construct the different types of

chromosomal mutation,

3. Appreciate the worth of individuals with

chromosomal mutation despite their
condition.

?
CHROMOSOMAL
MUTATION
> occurs at the chromosome level
resulting in gene deletion,
duplication or rearrangement that
may occur during the cell cycle and
meiosis
 CHROMOSOMAL
MUTATION
> Most mutation are harmful. Some mutations
in a body cell are known to cause cancer, while
mutations in sex cells cause birth defects. A
severe mutation may lead to cell death and may
have no effect on the body.

CHROMOSOMAL MUTATION
 CHROMOSOMAL
MUTATION
> Sometimes mutation may be useful
for the species. For example, a mutation in
blood proteins prevents viruses or parasites to
thrive in host organisms.

CHROMOSOMAL MUTATION
How does chromosomal mutation
happen?
 Meiosis I

CHROMOSOMAL MUTATION
How does abnormalities associated

with chromosome structure be

detected?
 KARYOTYPE
>an image of the full set of chromosomes of an
individual that displays the
normal number, size, and shape
> reveal the gender of a
fetus or test for certain defects through
examination of cells from uterine
fluid – a procedure called amniocentesis – or
through sampling of placental
membranes
 Types of chromosomal mutation

Deletion Duplication Inversion

CHROMOSOMAL MUTATION
 Types of chromosomal mutation

Deletion Duplication Inversion

refers to the one or more involves the breakage
loss of a copies of a of a chromosome in
segment of two places in which
DNA segment the resulting piece of
DNA or is produced DNA is
chromosome.
reversed and re-
inserted into the
chromosome.
 Types of chromosomal mutation

Insertion Translocation

CHROMOSOMAL MUTATION
 Types of chromosomal mutation

Insertion
addition of one or more
nucleotides into a segment of
DNA.
Translocation
occurs when a piece of
chromosome breaks off
and
attaches to another
chromosome.

CHROMOSOMAL MUTATION
 CHROMOSOMAL
MUTATION
IN
HUMANS

CHROMOSOMAL MUTATION
 DOWN
SYNDROME
 Down Syndrome
Is usually caused by an extra copy of
chromosome 21 (trisomy 21).
Characteristics include decreased
muscle tone, stokier build,
asymetrical skull , slunting eyes and
mild to moderate mental retardation.

CHROMOSOMAL MUTATION
 Cri du chat
caused by 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.

CHROMOSOMAL MUTATION
 Edwards syndrome
second most common trisomy after Down
Syndrome, is a trisomy of chromosome 18.

-Symptoms include mental and motor

retardation and numerous congenital
anomalies causing serious health problems.

CHROMOSOMAL MUTATION
 Turner’s syndrome
X instead of XX or XY.

- Female sexual
characterisitics are present
but undeveloped

CHROMOSOMAL MUTATION
 Klinefelter’s
syndrome
are usually sterille and tends
to have longer arms and legs
and to be taller than their
peers.

CHROMOSOMAL MUTATION