CHAPTER 7 :

Mutation
 Learning outcomes:
7.1 Mutation classification and types EDIT IN POWERPOINT®
a) Define mutation Click on the button under the presentation
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c) State the two types of mutation:
i. Spontaneous mutation
ii. Induced mutation (e.g exposure to
mutagens)

2
 Learning outcomes:
EDIT IN POWERPOINT®

7.2 Gene mutation Click on the button under the presentation

preview that says "Download as sickle
PowerPoint
▪ a) Define gene mutation d) Explain base substitution (e.g. cell
template". You will get a
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edit in PowerPoint.
▪ b) State the four types of gene mutation: e) State the effect of base substitution
▪ i. Base substitution Remember
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▪ Ii. Base insertion used
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▪ Iv. Base inversion slide)
f) Explain base insertion and base deletion as a
▪ frameshift mutation
▪ c) Explain four types of gene mutation

3
 Mutation
• A permanent change in genetic information /
DNA of an organism
• It can be passed to the next generation

4
 Mutant
• An organism that is carrying a mutated gene
/ gene that has undergone a mutation

5
Example :
Mutant

EDIT IN POWERPOINT®
Click on the button under the presentation
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Normal fruit flies have one pair of wings extending from a thorax.

This fly is a mutant because changes in bithorax, a gene regulating a critical stage of
6 development; it possesses two thoracic segments and thus two
 “
Classes of mutation
Subtopic 7.3

Gene/point Chromosomal
mutation mutation

A change in a A change in gene

gene at a single due to alteration
nucleotide pair. of chromosome
structure or
number

Types :
Base substitution
Base insertions
Base deletions
Base inversion
7
 “
Types of mutation

•Mutation that occurs spontaneously during DNA replication

and gamete formation caused by non disjunction.

NON-DISJUNCTION
•Failure of homologous chromosomes or sister chromatids to separate
properly during meiosis.
•Produce abnormal number of chromosome in a gametes that is passed
down to zygote.

8
Induced mutation

Mutation is induced by mutagen.

Fukushima mutant vegetable

Mutagen
A chemical or physical agent that
interact with DNA and cause mutation.
Types of mutagen
a) Physical agent:
• Ultraviolet (uv) ray
• Gamma ray
• X-ray
b) Chemical agent:
• Colchicine
• Ethidium bromide
 Colchicine
Used to produce tetraploid plants by
poisoning the mitotic spindle.
Used to prevent tumor cells from
dividing in certain chemotherapy
treatments.

11
Extra information

12
 Point mutations = changes
in a single nucleotide pair
of a gene

GENE MUTATION (small scale mutations)

• A change in one or a few nucleotide pairs of
genetic material / DNA / RNA in a particular region
of chromosome that represent a gene.

• Result in changes in mRNA which lead to

changes of amino acid encoded by a codon, and
produce different protein
13
 GENE MUTATION
• Protein produced may not function as normal
• If occur in gamete or in a cell that give rise to
gamete, it can be inherited
▪ If causes adverse effect, mutant conditions
referred to as genetic disorder or hereditary
disease.

14
 Types of gene mutation

Base substituition Base deletion

Replacement of one or a few
base pairs in the nucleotide
sequences in genes is
substituted
Base insertion
Addition of 1 or a few base
loss of 1 or a few base pairs in
nucleotide sequences
Base Inversion
2 base pairs or more are
inverted in nucleotide sequence
normal

pairs in the nucleotide

sequences in genes

15
animation
17
 Types of gene mutation
White
Is the color of milk and fresh
snow, the color produced by the
combination of all the colors of
the visible spectrum.
18 From Campbell 11th edition
Black
Is the color of ebony and of
outer space. It has been the
symbolic color of elegance,
solemnity and authority.
 “ Gene mutation can lead to:

• Missense mutation
• Non-sense mutation
• Silent mutation
• Frame shift mutation
19
 Missense mutations :

Mutation that causes changes in one amino acid within a protein.

Nonsense mutations :
– Change a codon to ‘stop codon’ (UAA/UAG/UGA)
– Causing a premature "translation stop signal“, lead to production of
short protein

Silent mutations :
– Changes a codon that still codes for the same amino acid
(Do not cause amino acid changes within a protein)

*One amino acid can be coded by more than one codon*

20
 Genetic code table

21
The EFFECT of base substitution

22
Silent
mutation

23
 “
Sickle cell Anemia
abnormal hemoglobin (protein)
Caused by :
▪ Glutamic acid (GAG/GAA codon) is changed into valine
(GUG/GUA codon) at one position in the protein (β-strand).

Effect :
▪ Patient suffer from anemia.
▪ The Hb cell stiff & tend to accumulate in capillary
▪ Hb is not efficient of transporting O2
▪ Fatigue

24
Sickle cell anemia as missense mutation

25
 Frame-shift mutations
Mutation that involves insertion or deletion of 1 or more base pair in the
nucleotides sequence of DNA.

• Base deletion and base insertion can lead to frameshift mutation

• The reading frame of DNA will be shifted after point of mutation
• Lead to changes in mRNA, which lead to changes of amino acid encoded by a codon.
• Gene read in wrong triplet bases starting from the point of mutation.
• Produce different/non-functional protein
• Usually harmful to human.
• e.g: Tay-Sachs disease, Major thalassemia .

26
 Reading frame shifted

27
Original DNA code for an amino acid sequence.

DNA
bases

Amino acid Insertion of a single

nucleotide

Incorrect amino acid sequence, which may produce

a malfunctioning protein.
Take note:
Insertion or deletion of
three nucleotides
(bases) will not lead to
frameshift mutation
 Thank you
And do your revision.

31
 7.3 Chromosomal mutation
a) Define chromosomal mutation g) Explain aneuploidy
b) State two types of chromosomal h) State aneuploidy effect on autosomal
mutation: chromosome (monosomy 21 and trisomi
i) Chromosomal 21) and sex chromosome (Klinefelter
structure/ chromosomal aberration syndrome and Turner syndrome)
ii) Chromosomal number i) Explain autosomal abnormalities and
c) Explain changes in chromosomal their effects:
structure/chromosomal aberration i) Monosomy (Monosomy 21)
ii) Trisomy (Down syndrome/Trisomy
d) Explain types of chromosomal
21)
aberration:
i) Translocation j) Explain sex chromosomal abnormalities
ii) Deletion (segmental deletion) i) Klinefelter syndrome (47, XXY)
(e.g. cri du chat) ii) Turner syndrome (45, XO)
iii) Inversion
iv) Duplication k) Explain euploidy/polyploidy: -
i) Autopolyploidy
e) Explain alteration of chromosomal
ii) Allopolyploidy
number
 Chromosomal Mutation
Mutation caused by alteration (changes) of chromosome structure or
in chromosome number.
Types :

1. Chromosomal structure (aberration)

a) Deletion
b) Duplication
c) Inversion
d) Translocation

2. Chromosomal number
a) Aneuploidy
- Monosomy (2n-1)
- Trisomy (2n+1)

b) Euploidy // polyploidy.
- Autopolyploidy
- Allopolyploidy
 1. Chromosomal Structure / Chromosomal aberration

•A rearrangement of a certain segment / parts of chromosome

(structural changes).

•4 types:

** Each alphabet represent a gene.

1. Deletion
- Lost of a segment containing 1 or more genes in chromosome.
- Segment break off at two points and detach from the chromosome.
- Produce shorter chromosomes with less genes.
- Causing loss of genetic materials.
- E.g. Cri du chat syndrome

A C D A
B B
C
D E
F
E G Lets assume that:
F H Each alphabet = 1 gene.
How many genes being
G I
deleted in this
H J chromosome?
I
J
 Cri du chat syndrome
Loss of small part of short arm
at chromosome 5
Symptoms of cri du chat:
• Mentally retarded
• Cries like a cat mewing
• Small head with unusual facial
features
2. Duplication
- A segment of a chromosome containing one or more genes become
duplicated.
- Producing longer chromosomes with an additional set of genes which
is similar to some genes present in the chromosome.
- Causing gain of genetic materials

A A E
B B F
C C G
D D H
C I Duplicated chromosomes
E D J segment.
F
G Each alphabet = 1 gene.
H How many similar genes
I found in this
chromosome?
J
3. Inversion
- A segment of a chromosome is break off at two points, flip 180°
and rejoin to the same chromosome.
- Produce a chromosome with reversed orientation.
- Causing changes in position of the gene involved
- There is no gain or loss of genetic materials but phenotype may change
- 2 types:
i. Pericentric inversion : involves centromere
ii. Paracentric inversion : does not involves centromere

Pericentric inversion Paracentric inversion

A A A
B B B
C C H
D D G
E E F

F F E
G G D
H H C
I I
I If inverted segment
J J involves
J
centromere, it is
known as
pericentric
inversion.
A A A
B B D
C C C
D D B
E E E

F F F
G G G
H H H
I I I If inverted segment
J J J does not involves
centromere, it is
known as
paracentric
inversion.
4. Translocation
- A chromosome segment breaks and reattach to another part of the same or
other chromosome.
- Causing changes in position of the gene involved
- There is no gain or loss of genetic materials but phenotype may change
- Types :
1. Reciprocal translocation (most common)
- Exchange of segments between nonhomologous chromosome
- Interchromosomal reciprocal translocation can change the linkage
groups

2. Non-reciprocal translocation (less common)

- One chromosome transfers a segment to another chromosome
without receiving a segment in return
- Interchromosomal non-reciprocal translocation where one
chromosome transfers a segment to another chromosome
- Intrachromosomal non-reciprocal translocation where one
chromosome transfers a segment to another region of the same
chromosome
Reciprocal translocation:- between nonhomologous chromosomes

A M M A
exchang
B e
N N B
C O C O
D D
P P
E Q E Q
F R F R
G S G S
H T H T
 Interchromosomal non-reciprocal translocation:-
between nonhomologous chromosomes
M
A transfer M N
B N A
C O C E B
D D F O
P G
E Q H P
F R Q
G S R
H T S
T
 Intrachromosomal non-reciprocal translocation:-
a segment translocate to another region of same chromosome
AA transfer
AA BB
C
BB
D
CC CC
DD DD
E
F
EE EE
G
FF FF
H
GG GG
A
HH HH
B
 Robertsonian translocation
A reciprocal translocation involves breaks at the extreme
ends of the short arms of two nonhomologous
chromosomes (usually chromosome 13, 14, 15, 21, 22)

A fusion between whole long arms of two acrocentric

chromosome (chromosome with centromere located near
the end).
 2. Chromosomal number alteration
Aneuploidy
Aneuploidy: A condition in which one or more
chromosomes has extra copies or less.
Caused by:
• Non disjunction of sex chromosome or
autosome chromosome during anaphase of
meiosis.
• Produce abnormal gametes:
- with extra chromosome (n+1)
- with less chromosome (n-1)
Monosomy or trisomy aneuploidy organism formed
when normal gamete (n) fertilized by abnormal
gamete (n-1) / (n+1) :
- (n) x (n - 1) = 2n - 1 (Monosomy)
- (n) x (n + 1) = 2n + 1 (Trisomy)
Monosomy (2n-1): a form of aneuploidy with the
presence of only one chromosome from a pair.
Trisomy (2n+1): a form of aneuploidy with the
presence of extra one chromosome from a pair.
Euploidy / polyploidy
Euploidy: Chromosomal alteration which involve the
whole set of chromosome (genome)
Polyploidy: A condition in which organism possess
more than 2 complete chromosome sets per cell.
(Normal set: 2n ; Polyploidy: 3n/4n/5n/6n …..)
Caused by:
• Non disjunction of whole set of chromosome
during anaphase of mitosis or meiosis.
• If occur during meiosis, abnormal gametes are
produced:
- with extra set of chromosome (2n/3n/4n…)
Polyploidy organism formed when normal gamete
(n) fertilized by abnormal gamete (2n/3n/4n…):
- (n) x (2n) = 3n (Triploidy)
- (n) x (3n) = 4n (Tetraploidy)
Or when abnormal gamete self fertilized :
- (2n) x (2n) = 4n (Tetraploidy)
 Changes in Aneuploidy
Chromosomal number Extra or less copy of single chromosome
Aneuploidy
Euploidy /
Polyploidy

2n+1 = 7 2n-1 = 5

Euploidy / Polyploidy
Extra copy of whole set of
chromosome

2n = 6
A normal diploid
(2n) cell

3n = 9 4n = 12
 ANEUPLOIDY
Aneuploidy: A condition in which one chromosome has extra copies or less.

Aneuploidy in human autosomal chromosome:

Autosomal chromosome: Any chromosome except for the sex chromosomes. Humans
have 44 autosomal chromosomes.

1) Monosomy (2n-1)
E.g. Monosomy 21

2) Trisomy (2n+1)
E.g. Trisomy 21 / Down Syndrome

Aneuploidy in human sex chromosome:

Sex chromosome: a type of chromosome that participates in sex determination. Humans
and most other mammals have two sex chromosomes, the X and the Y.

1) Monosomy (2n-1)
E.g. Turner Syndrome

2) Trisomy (2n+1)
E.g. Klinefelter Syndrome, Superfemale, Supermale
 Causes of Aneuploidy : Non disjunction of one chromosome
Failure of homologous chromosomes to separate during anaphase I of meiosis
or sister chromatids to separate during anaphase II of meiosis, produce gamete
with abnormal number of chromosome.

Fertilization of abnormal gamete (n-1) or (n+1) with normal

gamete will produce aneuploidy.
 Effect of aneuploidy in human:
Mostly harmful to human.

In autosomal chromosome
1.Monosomy (2n-1)
Example: Monosomy 21 (2n=45)
• Non disjunction of chromosome 21 during meiosis produce abnormal gamete with no
chromosome 21, (n-1).
• When the abnormal gamete (n-1) with no chromosome 21 fertilized by normal gamete
(n),
• Monosomy 21 zygote, carries 45 chromosomes with only one copy of chromosome 21
will be formed.

2.Trisomy (2n+1)
Example: Down Syndrome / Trisomy 21 (2n=47)
• Non disjunction of chromosome 21 during meiosis produce abnormal gamete with
two copies of chromosome 21, (n+1).
• When the abnormal gamete (n+1) with two copies of chromosome 21 fertilized by
normal gamete (n),
• Down syndrome or Trisomy 21 zygote, carries 47 chromosomes with two copies of
chromosome 21 will be formed.
 Aneuploidy Autosome Chromosomal Abnormalities
by Non Disjunction During Meiosis in Human:

Non disjunction of chromosome 21 produce:

Produce abnormal gamete with no copy of Produce abnormal gamete with extra copy
chromosome 21 : of chromosome 21 :
(n-1) 23 -1 = 22 (n+1) 23 +1 = 24
1. Abnormal gamete X normal gamete 1. Abnormal gamete X normal gamete
(n-1, 22) x (n,23) (n+1, 24) x (n,23)
Produces : Produces :
Monosomy 21 (2n=45) Trisomy 21 / Down Syndrome (2n=47)
Non-disjunction for Monosomy 21
 Aneuploidy in autosomal number

Monosomy (2n-1) :
Eg. Monosomy 21 (Less 1 chromosome at chromosome 21)
Common symptom : Short distance between eyes, large
ears, contracted muscle.
Karyotype
 Aneuploidy in autosomal chromosomal number
Trisomy (2n+1) : Karyotype
Eg. Down Syndrome / Trisomy 21
Extra 1 chromosome at chromosome 21.
*Total chromosome = 47.

Common symptom :
Short stature, flattened nose, protruding
tongue, upward slanting eyes, Short &
broad hands, short fingers. Growth &
mental usually retarded. Heart defects
& gastrointestinal abnormalities, shorter
lifespan. Often sexually underdeveloped
& sterile
 Aneuploidy Sex Chromosomal Abnormalities
by Non Disjunction During Meiosis In Male & Female:

Non disjunction during meiosis Non disjunction during meiosis

in male in female
Produce sperm with abnormal number of sex Produce ovum with abnormal number of sex
chromosomes : chromosome :
22 +XY, 22+XX, 22+YY, 22+O 22+XX, 22+O (no chromosome)
1. Abnormal sperm X normal ovum 1. Abnormal ovum X normal sperm
(22+XY) x (22+X) (22+O) x (22+X)
Produces : Produces :
Klinefelter syndrome (47, XXY / 44+XXY) Turner syndrome (45, XO / 44+XO)

2. Abnormal sperm X normal ovum 2. Abnormal ovum X normal sperm

(22+YY) x (22+X) (22+O) x (22+Y)
Produces : Produces :
Super male syndrome (47,XYY / 44+XYY) YO : die ! Miscarriage

3. Abnormal sperm X normal ovum 3. Abnormal ovum X normal sperm

(22+XX) x (22+X) (22+XX) x (22+Y)
Produces : Produces :
Superfemale /3X female (47,XXX /44+XXX) Klinefelter syndrome (47, XXY / 44+XXY)

4. Abnormal sperm X normal ovum 4. Abnormal ovum X normal sperm

(22 + O) x (22 + X) (22+XX) x (22+X)
Produces : Produces :
Turner syndrome (45, XO / 44+XO) Superfemale / 3X female (47,XXX /44+XXX)
 Effect of aneuploidy in human:

In sex chromosome number

1.Monosomy (2n-1)
E.g. Turner Syndrome (45,XO / 44+XO),
YO (fetus die)
Example 1: Turner syndrome (45,XO / 44+XO)
• Non disjunction of sex chromosome during meiosis produce abnormal gamete with no
X chromosome (22+O).
• When the abnormal gamete with no copy of X chromosome (22+O) fertilized by
normal gamete (22+X)
• Turner syndrome carries 45 chromosomes with one copy X chromosome (44+XO) will
be formed.
Example 2 : YO - fetus die // miscarriage
• Non disjunction of sex chromosome during meiosis produce abnormal ovum with no
X chromosome (22+O).
• When the abnormal gamete with no copy of X chromosome fertilized (22+O) by
normal sperm with 22+Y,
• YO zygote carries 45 chromosomes with no copy X chromosome will be formed, but
will die during fetus stage or miscarriage.
 Effect of aneuploidy in human:

In sex chromosome number

2. Trisomy (2n+1)
E.g. Klinefelter syndrome (47, XXY / 44+XXY),
Super male syndrome (47, XYY / 44+XXX)
Superfemale // 3X female (47, XXX / 44+XXX)

Example 1 : Klinefelter syndrome (47, XXY / 44+XXY)

• Non disjunction of sex chromosome during meiosis produce abnormal ovum with
extra copy X chromosome (22+XX) or abnormal sperm with extra copy X chromosome
(22+XY).
• If the abnormal ovum with extra copy of X chromosome (22+XX) fertilized by normal
sperm with Y chromosome (22+Y), Klinefelter Syndrome carries 47 chromosomes with
extra X chromosomes (44+XXY) will be formed.
• If the abnormal sperm with extra copy of X chromosome (22+XY) fertilized by normal
ovum (22+X), Klinefelter Syndrome carries 47 chromosomes with extra X
chromosomes (44+XXY) will be formed.
 Aneuploidy in sex chromosomal number
1. Klinefelter Syndrome (47, XXY / 44+XXY)
- In male.
- A type of trisomy (2n+1) : double X
chromosome.
- Causes : Non disjunction during oogenesis (ovum
formation) & spermatogenesis.
Common symptoms :
Sterile, small testis (fail to produce sperm),
feminine body characteristics (soft voice & breast
developed ), long hand & leg, low IQ.
 Aneuploidy in sex chromosomal number
2. Turner Syndrome (45, XO)
- A type of monosomy (2n-1).
- Female.
Common symptoms :
Sterile female (failed to ovulate), undeveloped breast,
dwarf, deaf, abnormal heart & normal intelligence.
 EUPLOIDY / POLYPLOIDY
Polyploidy: A condition in which organism possess more than 2
complete chromosome sets.
(poly: many ; ploidy: set of chromosomes :- Many set of chromosomes)

1) Autopolyploidy:
A condition of an individual has more than two sets of chromosomes,
both of which from the same parental species.
(auto: self ; poly: many ; ploidy: set of chromosomes :- Many set of chromosomes from
same type/species)

2) Allopolyploidy:
A condition of an individual has more than two sets of chromosomes,
both of which from different parental species.
(allo: other ; poly: many ; ploidy: set of chromosomes :- Many set of chromosomes
from different type/species)
 Causes of euploidy/polyploidy :
Meiotic error due to nondisjunction of whole set of chromosome
during meiosis
• Nondisjunction might occur to the whole set of chromosomes during meiosis.
- might occur to all homologous chromosomes in anaphase I of meiosis, or
- might occur to all sister chromatids in anaphase II of meiosis.
• Producing abnormal gamete (2n) with additional set of chromosomes or missing set of
chromosomes.
2n 2n

Nondisjunction to the
whole set of homologous
chromosomes in meiosis I

Nondisjunction to the
whole set of sister
chromatids in meiosis
II

2n 2n n n 2n
 Causes of euploidy/polyploidy :
Meiotic error due to nondisjunction of whole set of chromosome
during meiosis
• Nondisjunction might occur to the whole set of chromosomes during meiosis.
- might occur to all homologous chromosomes in anaphase I of meiosis, or
- might occur to all sister chromatids in anaphase II of meiosis.
• Producing abnormal gamete (2n) with additional set of chromosomes or missing set of
chromosomes.
• When the abnormal gamete (2n) fertilized with normal gamete (n), triploid (3n) will be
formed.
• When the abnormal gamete (2n) self fertilized, tetraploid (4n) will be formed.
 Causes of euploidy/polyploidy :
Mitotic error due to nondisjunction of whole set of chromosome
during mitosis
• Nondisjunction might occur to the whole set of chromosomes during anaphase of mitosis.
- sister chromatids fail to separate and moves to opposite poles.
• Producing a polyploid cell or new cell with additional set of chromosomes.
• Propagation by asexual reproduction of polyploid cell will arise more polyploid cells (in
plants).
 Effect of euploidy/polyploidy in human:
Mostly harmful to human but beneficial to plants.

In humans: Harmful, very fare, most fetus or infant die spontaneously.

In plants: Beneficial, common, purposely done for good traits such as seedless
and bigger fruits, etc.
Eg. Potato = 4n
Banana = 3n
Apples = 3n
Triticale = whet (6n) X rye (2n)
Cabbage = 4n
 Autopolyploidy:
A condition of an individual has more than two sets of chromosomes, both of which from
the same parental species.

• A parent produce unreduced gametes with extra set of chromosomes due to nondisjunction
during meiosis.
• When unreduced gametes undergo self fertilization, autopolyploid zygote will be produced.
 Allopolyploidy:
A condition of an individual has more than two sets of chromosomes, both of which
from different parental species.

• Allopolyploidy occurs when two closely related species mate and produce a
hybrid containing chromosome sets from both parent species.
• The resulting hybrid is usually sterile because the chromosomes from each
species cannot pair correctly during meiosis.
• Doubling the chromosome number in a sterile hybrid can often produce a fertile
hybrid.
 Allopolyploidy:
A condition of an individual has more than two sets of chromosomes, both of which
from different parental species.

• The two different species involved may also contribute different numbers of
chromosomes which again prevents chromosome pairing during meiosis,
rendering the hybrid sterile.
• Doubling the chromosome number in a sterile hybrid can often produce a fertile
hybrid.
Allopolyploidy : Polyploidy – chromosomes - from different species.

By doubling the chromosome

number, fertile hybrid are produced

Sterile F1 hybrid because :

- No pairing of homologous chromosome
- No meiosis can occur
- No gamete produced
 Allopolyploidy
In plant (wheat) T. aestivum

Sterile F1 hybrid because :

- No homologous chromosome
- No meiosis
- No gamete

By doubling the chromosome

number, fertile hybrid are
produced.

Fertile F2 hybrid because :

- Pairing of homologous chromosome
- Meiosis occur
- Gametes produced
Extra notes : Allopolyploidy ( btwn 2 species) in grass.
Spartina stricta X Spartina alterniflora
AA BB
(2n = 56 ) (2n = 70 )
(n = 28) (n = 35)

Sterile F1 hybrid because :

Hybrid (infertile) - No homologous chromosome
- No meiosis occur
(2n = 63) - No gamete produced

By doubling the chromosome

Polyploidy occur number, fertile
hybrid are produced

Spartina townsendii
AABB Fertile F2 hybrid because :
(2n = 126 ) - Have homologous chromosome
- Meiosis occur
(n = 63) - Gametes produced
THANK YOU