7.

0 MUTATION
Lecture 1
Learning Outcomes
At the end of this topic, students should be
able to:
Explain mutation
Classify mutation
State types of mutation
Define mutagen
State types of mutagen
Explain gene mutation/point mutation
Classify gene mutation

Describe base substitution as point
mutation
Explain frameshift mutation
Describe base insertion as a frameshift
mutation
Describe base deletion as a frameshift
mutation

Blue lobster a kind of mutant arising from a
mutation
E.g: blue lobster is an example of mutant
(An organism carrying a gene that has
undergone a mutation)
What is mutation?


7.1
CLASSIFICATION
& TYPES
MUTATION
Definition :
Mutations are changes in the DNA
sequence of an organism caused by
changes in genes or chromosomes

Down syndrome
Mutation produces new trait that can be
inherited

Mutation occurring in gamete cell are
inherited to offspring
Mutation occurring in the somatic cell
can only be inherited by daughter cells
produced by mitosis

It changes the phenotypes or
physiological process in the organism



Mutation can occur in during DNA replication

Many mutations result in the change of a
protein therefore the protein cannot function
as it should be


Classify of mutation
1. Gene mutation / Point mutation

2.Chromosomal mutation
Types of mutation
Spontaneous mutation

Induced mutation
Types of mutation
1. Spontaneous mutation:
Mutation that occurs in natural
conditions, errors happens
spontaneously during DNA
replication. (e.g. non-disjunction
during metaphase I or II)


2. Induced mutation
organism exposure to mutagens.

Mutations can be induced by several
methods. The general approaches used to
generate mutations are radiation and
chemical.

Mutagen
A mutagen is an environmental agent that
increases the chances of a mutation, induces
changes in DNA.

Types of mutagen
Chemical mutagen :E.g: colchicine and
ethidium bromide
Physical mutagen : E.g: Ultraviolet rays and
gamma rays

7.2 Gene mutation / Point mutation
Mutation that change the sequence of bases
in the DNA of a gene
the mutation can take the form of :
1. base substitution
2. base insertion
3. base deletion
4. base inversion





Base substitution the replacement of one
nucleotide & its partner with another pair of
nucleotides

Base insertion addition of 1 or a few base
pairs in the nucleotide sequences in genes

Base deletion loss of 1 or a few base pairs
in nucleotide sequences

Base inversion 2 base pairs or more are
inverted in nucleotide sequence

A
G
C
T
T
A
T
C
G
A
A
T
A
G
C
G
T
T
A
T
C
G
C
A
A
T
A
G
C
G
T
A
T
C
G
C
A
T
A
G
C
T
A
T
C
G
A
T
A
G
T
C
T
A
T
C
A
G
A
T
Normal
Base Deletion Base
Substitution
Base Insertion Base
Inversion
Point / Gene Mutation
Gene Mutation / Point Mutation
Base substitution the replacement of one
nucleotide & its partner with another pair of
nucleotides

3 bases / nucleic acid = 1 codon ( code for 1
amino acid)

Changes in codon may cause:
a) NONSENSE MUTATION
b) MISSENSE MUTATION
c) SILENT MUTATION


Base Substitution
Change in a nucleotide pair may transform 1
codon into another that is translated into the
same amino acid = SILENT MUTATION




Change 1 amino acid to another one =
MISSENSE MUTATION


Missense mutations is a mutation that results in one
wrong codon and one wrong amino acid in a polypeptide
or protein






NONSENSE MUTATION = happened if a
point mutation changes a codon for an
amino acid into a stop codon, translation will
be terminated prematurely.






Example of disease cause by point mutation (base
substitution)

SICKLE CELL ANAEMIA (DISEASE)

Sickle cell anaemia happens because of point
mutation

Happens because base substitution
of a single nucleotides in the DNAs template
strand

There is a change that leads to the production of
an abnormal protein




Amino acid valine replaces glutamic acid at a
single position in the protein (-strand)
In the DNA
T is substituted by A
Mutant mRNA has U
instead of A
There is a slight change in the primary structure
of hemoglobin

Normal red blood are disk-shaped, but in sickle-
cell anaemia, the abnormal hemoglobin
molecules tend to crystallize, deforming some of
the cells into a sickle shape

Defective red blood cell

Patient suffer from anaemia

Hb is not efficient of transporting oxygen






Frameshift Mutation
Involve insertion/deletion of a base pair
or more into the nucleotides sequence of
DNA

Many of these deletions/insertion start in
the middle of a codon

Shifting the reading frame by one or two
bases
Frame shift mutations cause the gene to
be read in the wrong three base groups
(codon)
From the mutation point,
It abrupt the coding sequence of amino
acid.
Changes in codons results changes in
amino acids
Different polypeptide is produced
Effect ~ usually harmful to human
E.g.: Major Thalasemia
(mutant homozygote alleles)

Base Insertion
Addition of one or a few bases to triplet
sequence in DNA

Normal code: GAG-GUU-CCU-AAA-CCU
glu val pro lys pro

Insertion : GAG-GUU-CCU-GAA-ACC
glu val pro glu thr
Base Deletion
loss of 1 or a few base pairs in nucleotide
sequences

Normal code: GAG-GUU-CCU-AAA-CCU
glu val pro lys pro

Deletion : GAG-UUC-CUA-AAC-CUA
glu ser leu asn leu
Why deletion of one base pair in any part of the DNA
strand can be lethal compared to the substitution of one
base pair?
It causes frame shift mutation
When the deletion starts in the middle of a codon, it
shifts the reading frame by one base
Frame shift mutations cause gene to be read in the
different three base groups
From the mutation point, it disrupts the coding sequence
of amino acid
Changes in codons result in changes in amino acid
sequence and different polypeptide is produced
As a result, different protein is produced
Lead to non-functional protein
The effect is usually harmful to human

Lecture 2
Learning Outcomes
At the end of this topic, students should be
able to:
Explain chromosomal mutation
Classify chromosomal mutation
Explain chromosomal aberration
State and describe types of chromosomal
aberration



7.3 Chromosomal mutation
As alterations in the number or structure
of the chromosome.
It can be passed to the offspring (inherited) if
mutation occurs in gamete cell
Increase variation

Occur during :
1. When chromosome are condensing and
being pulled apart in mitosis or meiosis.
2. When DNA replicates in interphase.
3. During crossing over in prophase I.

Classify of chromosomal mutation:

a) Chromosomal aberration (change in
structure of chromosome)

b) Alteration of chromosome number
(change in chromosome number)


a. Chromosome Aberration

Rearrangement a certain segment or parts of
chromosome (change of structure)

are most frequently formed during mitosis or
meiosis


Types of chromosomal aberration
4 types :
Deletion
Inversion
Translocation
Duplication

A
B
C
D
E
F
G
H
I
Break
off
Break
off
A
B
C
G
H
I
A
B
C
G
H
I
Losing middle
section
Deletions happen to chromosome 5
A
B
C
D
E
F
G
H
I
Break
off
Break
off
A
B
C
G
H
I
A
B
C
G
H
I
Losing middle
section
When the chromosome breaks at two places and lead to the
loss of the middle segment
The segment lost may contain one or more genes
The remaining end of chromosome will join again and
become shorten
Loss of a small part of the short arm of
chromosome 5 caused by a deletion
Cri du chat is a rare syndrome (1 in 50,000
live births)
The name of this syndrome is French for
"cry of the cat," referring to the distinctive
cry of children with this disorder.


The cry is caused by abnormal larynx
development, which becomes normal within a
few weeks of birth.

Infants with cri du chat have low birth weight and
may have respiratory problems.

Some people with this disorder have a shortened
lifespan, but most have a normal life expectancy.

Where does the abnormal chromosome 5 come
from? In 80 percent of the cases, the
chromosome carrying the deletion comes from
the father's sperm.


Inversion : a region of a chromosome breaks
off and rotates through 180 before rejoining
the chromosome
A
B
C
D
E
F
G
H
I
break
off
break
off
A
B
C
G
H
I
D
E
F
A
B
C
F
E
D
G
H
I
Two types of inversion that are pericentric
inversion and paracentric inversion:
Pericentric inversion include centromeres
during mutation
Paracentric inversion does not include
centromere during mutation

There is no change in the genotype

But phenotype may changes

Also known as the position effects
Duplication : a region of a chromosome
becomes duplicated; an additional set of
genes exists
When a single locus or a large piece of a
chromosome is present more than once
in the genome

A
B
C
D
E
F
G
H
I
A
B
C
D
E
F
G
H
I
F
G
H
I
Additional set of
genes
Translocation


Involves a region of a chromosome breaking off
And rejoining at either end of the same
chromosome
Or another non-homologous chromosome
Translocation : involves a region of a chromosome breaking
off and reattach to another part of the same or other
chromosome.
A
B
C
D
E
F
Break
off
W
X
Y
Z
A
B
C
D
E
F
W
X
Y
Z
D
E
F
W
X
Y
Z
A
B
C
1
2
Simple translocation/ non-reciprocal
translocation

Chromosome segment translocate to another
region of the same chromosome or another
chromosomes

Interchromosomal translocation occurs when
segment of one chromosome translocate to
another chromosome

Intrachromosomal translocation occurs when
segment of one chromosome translocate to
another region of the same chromosome
Reciprocal translocation

- Occurs when exchanges of segment between two
nonhomologous chromosomes

- Changes in position of the genes involved

- There is no gain or loss of genetic materials

- No changes in genotype but phenotype may
changes

- Reciprocal translocation can change the linkage
groups

Lecture 3
Learning Outcomes
At the end of this topic, students should be
able to:
Explain alteration of chromosome number
State the types of the alteration of chromosome
number
Explain aneuploidy
- explain sex chromosomal abnormalities
- explain autosomal abnormalities
Explain autosomal abnormalities and their effects
- Monosomy
- Trisomy


b. Alterations of chromosome
number

Alterations of chromosome number is the
changes in the chromosome number



Caused by non-disjunction:
If non-disjunction occurs during meiosis I
homologous chromosome fail to separate
If non-disjunction occurs during meiosis II
sister chromatid fail to separate
Types alteration of chromosome number
a. aneuploidy (2n+1,2n+2, - -)
b. polyploidy (3n, 4n,.)

Alterations of chromosome number consist of :
1.Aneuploidy
Condition where the diploid cell (2n) gain or
loss 1 or more chromosomes. Can cause by
non- disjunction



Aneuploidy
Aneuploidy
a)Abnormalities in the sex chromosome
number
Non disjunction during spermatogenesis
Non disjunction during oogenesis
b)Abnormalities in the autosomal
chromosome number
a)Abnormalities in the sex chromosome
number: Non disjunction during
spermatogenesis
If non disjunction during meiosis I & II
sperm will have the abnormal sex
chromosome : XY, XX @ YY
Abnormal sperm x ovum (X)
Klinefelter syndrome (XXY)
Super male syndrome (XYY)
3X female (metafemale, XXX)
Turner
XY
X X
XXY XXY
Non disjunction
during meiosis
I
XY
XY XY
XY XY
Klinefelter syndrome Klinefelter syndrome
XY
X
X
XXX XYY
Non disjunction
during meiosis
II
XX
Y
X
YY
XX YY
Super male syndrome 3X female (metafemale
Non disjunction during Oogenesis
If non disjunction happened
Some ovum might not carry any
chromosome X & some others might
carry 2 chromosome X
Abnormal ovum (O) x sperm
Turner syndrome (XO)
YO : dead
Abnormal ovum (XX) x sperm
Klinefelter syndrome (XXY)
3X female
XX
X X
XXX
XO
Non disjunction
during meiosis
I
XX
0
X X

XX
XXY
Y
Y
YO
XX
0
0
XX
0 0
Symptoms
Klinefelter Syndrome (XXY) : 2n+1 (Trisomy)
Sterile male (small testis), failed to produce
sperm
Feminised male (soft voice) & big breast, long
hand and leg
Non disjunction during oogenesis and
spermatogenesis

Turner Syndrome (XO) : 2n-1 (Monosomy)
Sterile female (failed to ovulate)
Small breast & undeveloped ovary
dwarf, deaf, abnormal heart & low IQ
Klinefelter Syndrome Turner Syndrome
b) Autosomal abnormalities caused Monosomy
and Trisomy
Monosomy (2n - 1) occurs when an individual
has only one of a particular type of
chromosome.
Trisomy (2n + 1) occurs when an individual
has three of a particular type of chromosome
(Down Syndrome / Trisomy 21)

Abnormalities in autosomal
chromosome number
Non disjunction could also happen to
autosome
E.g. : Down Syndrome non
disjunction of chromosomes 21 during
gametogenesis
Individual with 47 chromosomes
(instead of 46) appearance of 3
chromosome at chromosome 21
No 21chromosome
move to the same pole
MEIOSIS I
MEIOSIS II
Sperm with 2
chromosome at
chromosome 21
Zygote with 3 chromosome at
chromosome 21
Second polar body
Polar body 1 lack of
chromosome 21
Down Syndrome
Down syndrome (Trisomy 21) is caused by
three copies of chromosome 21.

result from non-disjunction of
chromosome 21
Fusion gametes between chromosome
(n+1) and normal gamete (n), produced
embryo with chromosome (2n+1) :
Trisomy; eg. Downs syndrome
Non disjunction Normal
Non disjunction Normal Normal Normal
MEIOSIS I
MEIOSIS II
Trisomy 21: Symptoms of Down
Syndrome
Suffer mild to severe mental retardation

Short stocky body type

Large tongue leading to speech difficulties

Those who survive to middle-age, a propensity
to develop Alzheimers Disease
Symptoms of Monosomy 21
Short distance between eyes
Large ears
Contracted muscle
Euploidy
Changes of the chromosome number which
involved the whole chromosome set (3n, 4n, 5n, ..)
Occurred when a set of chromosome did not
separate during gametogenesis
Common in plants than in animals
Gametes fusion will produce cell or organism which
have more than 2 set of chromosome
The condition of having more than two sets of
chromosomes ( 3n, 4n, 5n, ) known as
polyploidy
2 types of polyploidy - Autopolyploidy
- Allopolyploidy
Genome Polyploidy
3n Triploid
4n Tetraploid
5n Pentaploid
6n Hexaploid
8n Octaploid
10n Decaploid

Triploid (3n) occurs when
i) a gamete (2n) fused with a normal
gamete (n)
ii) chromosomes disable to segregate
during meiosis to produce diploid
gamete
iii) gamete from tetraploid organism (4n)
fused with diploid organism gamete
(2n).

Tetraploid plants can be produced by :
1) Somatic duplication of chromosome
number
i) Involving homologous chromosome set
P : AA (2n)

(Duplicate)

F1: AAAA (4n)










7.3 Alteration of chromosomes
number
Karyotype
LECTURE 3
Learning Outcomes
At the end of this topic, students should be
able to:
e) Explain alteration of chromosome number
f) State the types of the alteration of chromosome
number
i) aneuploidy
ii) euploidy / polyploidy
g) Explain aneuploidy
i) explain sex chromosomal abnormalities
ii) explain autosomal abnormalities
h) Explain autosomal abnormalities and their
effects
i) Monosomy (monosomy 21)
ii) Trisomy (Down syndrome / trisomy 21)

i) Explain sex chromosomal abnormalities
i) Klinefelter syndrome (47 , XXY)
ii) Turner syndrome (45 , XO)

j) Explain euploidy ( polyploidy )
i)Autopolyploidy
ii) Allopolyploidy

Alterations of chromosome
number

Alterations of chromosome number is the
changes in the chromosome number in a
chromosome set.
The change is caused by non-disjunction
in anaphase I or anaphase II of meiosis
process.




Disjunction:
chromosomes separated to the opposite
poles during meiosis


What is the Non-disjunction process?:
failure of pair of chromosome to separate
and to move to the opposite poles
both sets of chromosomes pass to the
same pole of the cell
When non-disjunction could occurs?
If non-disjunction occurs during meiosis I
homologous chromosome fail to separate
If non-disjunction occurs during meiosis II
sister chromatids fail to separate
Non-disjunction will lead to aneuploidy
Nondisjunction in Anaphase I & II during
meiosis process
Aneuploidy is a condition in which the number of
chromosomes is abnormal due to extra or missing
chromosomes, in other words, it is a chromosomal state
where the number of chromosomes is not a multiple of the
haploid set.

Normal diploid species have 2n chromosomes, where n is
the number in the haploid set.

Aneuploid individuals would have 2n-1 chromosomes
(monosomy), 2n+1 chromosomes (trisomy), or some other
such arrangement.

A change in the number of chromosomes can lead to a
chromosomal disorder. Aneuploidy is common in cancerous
cells.
What is meant by aneuploidy?
Anaphase I
44
XY
44
XX
22
X
22
Y
22
X
22
X
22
X
22
X
22
Y
22
Y
22
X
22
X
22
X
22
X
22
X
22
Y
22
Y
22
X
22
X
Anaphase II
Normal disjunction
Non disjunction Normal
Non disjunction Normal Normal Normal
Anaphase I
Anaphase II
Nondisjunction
Half the daughter cells produced have an extra
chromosomes (n+1) whilst the other half have a
chromosome missing (n-1)

Fusion gametes between chromosome (n+1) and
normal gamete (n), produced embryo with
chromosome (2n+1) : Trisomy; eg. Downs
syndrome

Fusion gametes between chromosome (n-1) and
normal gamete (n), produced embryo with
chromosome (2n-1) : Monosomy; eg. Turner
Syndrome
Nondisjunction in anaphase
of meiosis
Autosomal abnormalities
i.Monosomy 21
ii.Trisomy 21 (down syndrome)
Monosomy 21 Trisomy 21
Normal Human Karyotype
Normal chromosomes
Normal human somatic cells have 46 chromosomes:
22 pairs, or homologs, of autosomes (chromosomes
1-22) and two sex chromosomes.
This is called the diploid number.
Females carry two X chromosomes (46,XX) while
males have an X and a Y (46,XY).
Germ cells (egg and sperm) have 23 chromosomes:
one copy of each autosome plus a single sex
chromosome.
This is referred to as the haploid number. One
chromosome from each autosomal pair plus one sex
chromosome is inherited from each parent.
Mothers can contribute only an X chromosome to their
children while fathers can contribute either an X or a Y.

Monosomy
Monosomy is the presence of only one
chromosome from a pair in a cell's
nucleus.
Monosomy 21
The syndrome is generally lethal and
only several cases of living newborn
infants have been reported, most of
whom die between 3 weeks and 20
months of life but some survive into
childhood.


Monosomy 21
Symptoms:
- Short distance between
eyes
- Large ears
-Contracted muscle
-Large nose with a broad
base
-cleft lip and/or palate
-Short neck
-Short thorax
-Small hands and feet,
overlapping and/or flexed
fingers and toes,
-hyperactive reflexes
(nervous system)
Trisomy
A trisomy is the presence of three,
instead of the normal two,
chromosomes of a particular numbered
type in an organism.

Thus the presence of an extra
chromosome 21 in human autosome with
many individuals surviving for more than
a year is called trisomy 21, or Downs
Syndrome
Trisomy 21
Down syndrome/trisomy 21
Symptoms

Short stature. A child often grows
slowly and, as an adult, is shorter
than average.
Weak muscles (hypotonia)
throughout the body. A child may
seem to have less strength than other
children of the same age.
A short, wide neck with excess fat
and skin. Usually, this trait is less
obvious as the child gets older.
Short, stocky arms and legs. Some
children also have a wide space
between the big toe and second toe.


Where does the extra
chromosome come from?
In 90% of Trisomy 21
cases, the additional
chromosome comes from
the mother's egg.
This karyotype is an example of Down Syndrome (trisomy 21), the most
common numerical abnormality found in newborns. It is characterized by an
extra chromosome 21 and the karyotype is written as: 47,XY,+21. The key to
the karyotype description is as follows:
47: the total number of chromosomes (46 is normal).
XY: the sex chromosomes (male).
+21: designates the extra chromosome as a 21.

Human trisomy

A trisomy can occur with any chromosome. Most
trisomies, like most other abnormalities in
chromosome number, result in distinctive and
serious birth defects. Most trisomies result in
spontaneous abortion; the most common types
that survive to birth in humans are:
Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau syndrome)
Trisomy 9
Trisomy 8 (Warkany syndrome 2)
Trisomy 16 is the most common trisomy in
humans, occurring in more than 1% of
pregnancies. This condition, however, usually
results in spontaneous miscarriage in the first
trimester.
7.3 Sex chromosomal
abnormalities
Aneuploidy can invlove sex chromosomes
causing various syndromes mentioned below:
i. Klinefelter syndrome (47,XXY)
ii. Turner syndrome (45,XO)
i) Explain sex chromosomal abnormalities
i. Klinefelter syndrome (47, XXY)
ii. Turner syndrome (45, XO)
LEARNING OUTCOMES
Sex Chromosome Aneuploidy
Abnormalities in the sex chromosome
number
Non disjunction during
spermatogenesis
Non disjunction during oogenesis

Abnormalities in sex
chromosomes
Spermatogenesis
Klinefelter syndrome (XXY)
Super male syndrome (XYY)
3X female (metafemale, XXX)

Oogenesis
Turner syndrome (XO)
Klinefelter syndrome (XXY)
3X female (XXX)


Non disjunction during
spermatogenesis
If non disjunction in Anaphase I & II
during meiosis
sperm will have the abnormal sex
chromosome : XY, XX @ YY
Abnormal sperm x ovum (X)
Klinefelter syndrome (XXY)
3X female (metafemale, XXX)
Super male syndrome (XYY)
XY
X X
XXY XXY
Non
disjunction
during
anaphase I
XY
XY
XY
X X
XXX XYY
Non
disjunction
during
anaphase II
XX YY
Non disjunction during Oogenesis
If non disjunction happened
Some ovum might not carry any
chromosome X & some others might carry 2
chromosome X
Abnormal ovum (O) x sperm (X or Y)
Turner syndrome (XO)
YO : dead
Abnormal ovum (XX) x sperm (X or Y)
3X female
Klinefelter syndrome (XXY)
XXX XXY XO YO
Ovum with 2
X chromosome
Ovum without
X chromosome
Non disjunction
Normal
sperm
XX
X
Y
X Y
O
Klinefelter syndrome (47,XXY)
Klinefelter's syndrome, 47, XXY or XXY
syndrome is a condition caused by a
chromosome nondisjunction in males; affected
individuals have a pair of X sex chromosomes
instead of just one

It is named after Dr. Harry Klinefelter, a
medical researcher at Massachusetts General
Hospital, Boston, Massachusetts, who first
described this condition in 1942. The condition
exists in roughly 1 out of every 500 males.
Symptoms
delayed speech
sensory integration difficulties, including
sensitivity to noise
hypotonia or low muscle tone
auditory processing problems
language-based learning disabilities, including
reading difficulties
anxiety
depression
gynecomastia or swelling of breast tissue during
puberty
Feminised male (soft voice)
Sterile male (small testis), failed to produce
sperm
long hand and leg
Turner syndrome (45,XO)
Turner syndrome results from a
chromosomal abnormality in which a
female infant is born
Only one X chromosome (instead of the
usual two) or is missing part of one X
chromosome.
Turner syndrome
Symptoms
short stature
"webbing" of the skin of the neck (extra folds of skin
extending from the tops of the shoulders to the sides of
the neck)
a low hairline at the back of the head
low-set ears
abnormal eye features, including drooping of the
eyelids
abnormal bone development, especially the bones of
the hands and elbows
a lack of breast development at the expected age
(usually by age 13)
an absence of menstruation (amenorrhea)
a larger than usual number of moles on the skin
T
U
R
N
E
R

S
Y
N
D
R
O
M
E

P
A
T
I
E
N
T
S
Abnormal Phenotype
Klinefelter Syndrome (XXY) : 2n+1 (Trisomy)
Sterile male (small testis), failed to produce
sperm
Feminised male (soft voice) & big breast,
long hand and leg
Non disjunction during oogenesis

Turner Syndrome (XO) : 2n-1 (Monosomy)
Sterile female (failed to ovulate)
Small breast & undeveloped ovary
dwarf, deaf, abnormal heart & low IQ
Klinefelters syndrome Turners syndrome
7.3 Euploidy
(Polyploidy)
Learning Outcomes:

j) Explain euploidy / polyploidy
i. Autopolyploidy
ii. Allopolyploidy
Describing a nucleus, cell or organism
that has an exact multiple of the
haploid number (n) of chromosomes.

* For example: diploid (2n), triploid(3n), and tetraploid
(4n) nuclei or cell are euploid
* Compare aneuploidy
Euploidy
(Polyploidy)
EUPLOIDY
Changes of the chromosome
number which involved the whole
chromosome set

Occurred when a set of
chromosome did not separate
during gametogenesis

Common in plants than in animals

Gametes fusion will produce cell @
organism which have more than 2 set of
chromosome
Cell with only ONE set of chromosome:
monoploid, this occurrence is usually rare
and cannot survive.
Cell with 3 or more chromosome set :
polyploid
2 types of polyploidy
i) Autopolyploidy
ii) Allopolyploidy
Polyploidy
The condition of having more than two
sets of chromosomes ( 3n, 4n, 5n,
)
Genome Polyploidy
3n Triploid
4n Tetraploid
5n Pentaploid
6n Hexaploid
8n Octaploid
10n Decaploid

Polyploidy
Polyploidy usually causes death in animals, but many
plants survived polyploidy.
This is because plants are less sensitive to sex
determination and most plants are capable of self-
fertilization.
Polyploidy occurs frequently in plant population and
is very, very rare in animals.
Polyploidy plants are usually more resistant to pests
and diseases and are stronger than most diploid
organisms.
These beneficial characteristics have influenced the
evolutionary patterns of many plants, such as wheat,
maize and a few types of weeds.
TRIPLOID
Triploid (3n) occurs when
i) a gamete (2n) fused with a normal
gamete (n)
ii) chromosomes disable to segregate
during meiosis to produce diploid
gamete
iii) gamete from tetraploid organism (4n)
fused with diploid organism gamete
(2n).
TETRAPLOID
Tetraploid plants can be produced by :
A) Somatic duplication of chromosome
number

i) Involving homologous chromosome
set
P : AA (2n)
(Duplicate)
F1: AAAA (4n)
ii. Involving non-homologous sets
P : AA (2n) BB (2n)
G : A B
F1: AB (sterile)
doubling of chromosome
number

AABB (fertile)

B) Fusion of two diploid gametes
P : AA (2n) AA (2n)
G : AA AA
FI: AAAA
Polyploidy
Autopolyploidy :
Is an individual that has more than two chromosome
sets, all derived from a single species
The chromosomes set are homologous with the
parent cell
Involve homologous chromosome
Autopolyploidy is caused by non-disjunction in
meiosis that cause the formation of diploid gametes
The fertilization of a normal gamete (haploid) with
diploid gamete will produce triploid organism.
Importance in economic value which autopolyploid
plants produce flowers and fruits bigger than normal
diploid plants
Allopolyploidy
A polyploid resulting from 2 different species
(hybridization) interbreeding and combining their
chromosomes

The chromosome sets are different to parental cell

Homologous chromosome sets not involve

A good example is the wheat plant, Triticum
aestivum, which is a 6n organism with 42
chromosomes.

T. aestivum has chromosomes complements from 3
species of plants

F
1
hybrids produced from different
species are usually sterile (haploid set of
chromosome from one species cannot pair
during meiosis with the haploid set from
the other species)

Chromosome number in a sterile hybrid
becomes doubled and produces fertile
hybrids (synapsis and segregation can
occur and viable gametes can be
produced)

Importance in producing new species

Triticum monococcum
(Einkorn wheat)
AA
(2n = 14 )

Triticum searsii
(Wild grass)
BB
(2n = 14 )
Triticum aestivum
AA BB CC
(2n = 42)
Hexaploid of original einkorn wheat
Triticum turgidum
(Emmer wheat)
AA BB
(2n = 28 )
X


Triticum tauschii
(Wild grass)
CC
(2n = 14 )
X
Sterile hybrid
AB
Sterile hybrid
ABC
Example 1
Spartina alternifora
BB
(2n=70)
Spartina maritina
AA
(2n=56)
x
n=28
n=35
AB
Spartina anglica
(fertile)
AABB
4n=126

duplication
2n =63
Hybrid Spartina x townsendii
Example 2
Primula floribunda
AA
(2n = 18 )
n=9
Primula verticillata
BB
(2n = 18 )
n=9

X
Primula kewensis
Sterile hybrid
AB
(2n = 18)
Doubling of chromosome number
Primula kewensis
fertile
AABB
(4n = 36)
tetraploid
Example 3