CHROMOSOM

AL MUTATION
 Objectives
At the end of the lesson you should be able
to:
● differentiate between numerical and
structural chromosomal mutations,
● differentiate between trisomy and
monosomy, and
● describe the types of structural mutation.
Chromosomes
 Chromosomes
● DNA molecules are packed in threadlike
structures called chromosomes.
● The DNA proteins are tightly wound
around proteins called histones.
● Chromosomes may comprise the
complete or partial genetic material of an
organism.
Short arm
● The chromatid is one of the
two arms of the
chromosome.
Centromere

● The constriction point of a

chromosome, called the
Long arm
centromere, is where the
chromatids touch.
● p arm- short arm.
● q arm- long arm.
Chromatids
• Humans have 23 pairs of chromosomes. The first
22 pairs are identical in both males and females.
These pairs are called autosomal chromosomes.
• The twenty-third pair differs between males and
females. This pair comprises the sex
chromosomes.
 Chromosomal Mutation
● A chromosomal mutation is a type of mutation
that involves a long segment of DNA.
● It may involve changes in parts of chromosomes
or in the entire set of chromosomes. Usually
occurs during meiosis and mitosis.
● The two general types are numerical mutation
and structural mutation.
 Numerical Mutation
● Numerical mutation results to nondysjunction, or a
failure of a pair of homologous chromosomes or a sister
chromatids to separate during mitosis and meiosis.
● Aneuploidy- is the changes in the chromosomal number,
such as the deletion or addition of one or more
chromosomes
● The addition of one chromosome to the normal 2N is
called trisomy (2N+1).
● The deletion of a chromosome from the normal
chromosome number 2N is monosomy (2N-1).
Trisomy 21 or Down
Syndrome
Trisomy 21 or
Down Syndrome is a
human chromosome
trisomy involving
nondysjunction of the
21st pair of
autosomes.
 Characteristics of Down Syndrome
●short stature
●short and broad
hands
●mental retardation
●heart problems
●short life span
●Polyploidy results from nondysjunction
involving entire sets of chromosomes.
●A polploidy organism has an extra set or
several complete sets of chromosomes.
●Polyploidy in plants are ofter healthier,
larger and more resilient than their
diploid counterparts.
 Structural Mutation
●Deletion
●Inversion
●Translocation
●Duplication
 Translocation
● Translocation is the transfer of
genetic material between two
non-homologous chromosomes.
● The most common form involves
a single break in each of the two
chromosomes and an exchange
of the broken pieces.
 Translocation
●The movement of a segment of human
chromosome 22 to chromosome 9 is
associated with a form of cancer called
myeloid leukemia. Proliferation of
certain white blood cells in bone
marrow.
 Inversion
● Inversion involves two breaks
in a chromosome, followed by
the broken ends reattaching in
reverse order.
● In paracentric inversion,
both breaks occur in one arm
of the chromosome, whereas
in a pericentric inversion, the
centromere is involved as each
arm has a break point.
 Deletion
● Deletion is usually caused
by breaks in chromosome
and a consequent loss of
one or more genes.
● The effects of deletion
increase in severity as the
number of lost sections or
genes increases.
 Cri du chat
Syndrome
It results from total
or partial deletion on
the short arm of the
chromosome 5.
 Duplication
● Duplication occurs when
portions of chromosomes
are present in multiple
copies.
● The effects are believed to
be less severe than
deletions and are difficult
to detect in humans.
 Chromosomal Mutation
AB C DE F DELETION

AB C DE F INVERSION

TRANSLOCATI
AB C DE F ON

AB C DE F DUPLICATION