Inheritance

A2 Biology ( 9700)
2022-2023
7/8/2023
Part 1
Meiosis
Homologous pair of chromosomes Have same length
Same genes
These are the 22 matching pairs of chromosomes
At same loci

22 pairs …..autosomes Same position of centromere

1 pair (gender) …..sex chromosmes Form bivalent

Same genes at same loci ( position of gene on

chromosome ).
But may be different alleles

Haploid …..a cell with nucleus containing one set of

chromosomes.
Diploid……a cell with nucleus containing 2 sets of
chromosomes.
Fertilsation ……fusion of 2 haploid nuclei from 2
gametes to a diploid zygote in sexual reproduction .
Why is meiosis needed before fertiliation

To produce gametes which are haploid

With nucleus halving half the number of chromosomes
So in meiosis reduce the n umber of chromosomes to reduce them from diploid to haploid
So upon fertilisation we restore the diploid number of chromosomes without doubling in each generation
Also meiosis causes variation
 Mitosis Meiosis

Involves one division Involves 2 divisions

Gives 2 daughter cells Gives 4 daughter cells which are

Genetically identical Genetically non identical

No genetic variation
Shows genetic variation

Involves crossing over

No crossing over

No independent assortment Independent assortment

Produce diploid cells Produce haploid cells

Interphase Involves The DNA replication and cell growth

Meiosis I
Chromatin
\= 1 DNA
Prophase I

1. Chromatin condense into chromosome , where each chromosome made

of 2 sister chromatids attached by centromere .
2. Centrioles move towards the poles of the cell
3. Nuclear envelope breaks down , nucleolus disappears. Non sister chromatids of a
homologous pair ( bivalents)

4. Pairing up of the homologous pair of chromosomes ( BIVALENT ) .

5. Crossing Over ( recombination ) between non sister chromatids of homologous pair of
chromosomes

1. Involves swapping sections of chromatids using enzymes by cutting and recombining

parts of the paternal and maternal chromatids at the Chiasmata …leading to more
variation producing new recombination of alleles
2. Due to Exchange of alleles
3. Linkage groups broken
Metaphase I

1. Centrioles reach the poles of the cell

2. Spindle fibres are fully formed

3. Homologous pair of chromosomes line up at the metaphase plate

4. Independent assortment occurs where :
Paternal and maternal ( homologous pair ) chromsomes arrange them selves randomly at
the cell equator….resulting in more variation where new recombination of alleles
produced( lead to different combination in daughter cells )

Anaphase I

1. the centromere don’t divide

2. Spindle fibres shorten pulling one of each pair of homologous
chromosomes to opposite poles of the cell…..reduction division

Telophase I 2 chromosomes =4 DNA molecules

1. Chromosomes reach poles of the cells .

[Link] envelop reform and nucleolus reappear.
3. Chromosomes uncondense and uncoil into chromatins
4. Cytoplasm constrict and cell begins to divide ….

Ending by 2 genetically DIFFERENT cells ( haploid )

Summary of meisois I

Its a reduction division the involves :

1. Pairing up of homologous pair of chromosomes forming BIVALENTS ………leading to CROSSING

OVER between non sister chromatids of homologous chromosomes….. involves swapping of
sections of chromatids during PROPHASE I .

2. Homologous pair of chromosomes line up at the metaphase plate in METAPHASE 1 Showing an

independent assortment where homologous chromosomes randomly line up at the equator of the cell .

3. In ANAPHASE 1 , no division of centromere , so spindle fibres shorten pulling one of each pair of
homologous chromosomes to opposite poles of the cell .

4. In TELOPHASE 1 , the nuclear envelope reform , nucleolus reappear.

5. Followed by cytokinesis which ends up by two genetically different daughter cells with half number of
chromosomes .
Meiosis II

Prophase I I

1. Chromatin coil and condense ( become shorter and thicker )

Forming chromosomes where each chromosome is made from 2
sister chromatids attached by centromere .
2. Centrosomes / centriole start moving towrds the poles of the
cell
3. The nuclear envelop will break and nucleolus disappear
New spindle fibres starts to form

Metaphase II

Centrioles reach poles of the cell

Spindle fibres fully formed
Chromsomes line up at the equator with spindle fibres
attached to them by centromereter
 Anaphase II
Centromeres divide
Spindle fibres shorten pulling the sister chromatids
towards the opposite poles .

Telophase II ,

Nuclear envelop reform , nucleol'us reappear

Chromosomes reach the poles of the cell
The chromsomes uncondense and uncoil to become chromatins
Cytoplasm starts to constrict

Cytokinesis Producing four daughter cells each with

haploid number of chromosomes

Meiosis I Meiosis II
4 chromosomes 2 chromosomes 2 chromosomes
8 DNA molecules 4DNA molecules 2 DNA molecules

Haploid Haploid
Summary meiosis II
Start with no further replication of DNA
Its just like mitosis
1. Centromeres divide , chromatids separate to move to opposite poles of the cell
2. Nuclear envelop reform and the chromosome decondense and become invisible again
3. The cytokinesis occur producing 4 haploid cells which later develop into gametes

Importance of meiosis

1, reduction division producing hapolid cells with half number of chromosomes

• so upon fertilisation we restore the diploid number of chromosomes
• - thus avoid doubling with each generation
2. Allows / generates / increases genetic variation increasing survival chance , by
natural selection
3. Allow expression of recessive alleles .

How meiosis causes genetic variation

1. Crossing over between non sister chromatids of homologous pair of chromosomes ( bivalents ) which involves
swapping of sections of DNA during PROPHASE 1 ……LINKAGE GROUPS ARE BROKEN
2. independent assortment , where PATERNAL and MATERNAL chromosomes ( bivalents ) randomly line up along
the equator of the cell in the METAPHASE 1 .
3. Thus producing new combination of alleles .
4. Random mating and random fertilisation of gametes .
5. Also errors in the process lead to mutation , which will also cause the new combination of genetic make up of
species .
I
 Pattern of inheritance

Gene:

A length of DNA coding for specific protein, determining specific characteristics.

Allele:

Alternative forms of same gene, occupying same locus /position on homologous

chromosomes
May be:

r
Dominant Recessive

ab
Allele always expressed in Allele expressed in phenotype only
phenotype whether the individual when individual is homozygous for
is homozygous or heterozygous that recessive trait.( both alleles
for that allele.

Homozygote : Heterozygote :
lG coding for recessive trait)
iha
An individual An individual
when both alleles where the 2
coding for a alleles coding for
particular a particular
.N

characteristic are characteristic are

identical different
Dr

Genotype:

Genetic make up of an organism with respect to a particular feature

OR combination of /pair of / two / all alleles present in an organism of a
particular trait.

Phenotype:

All characteristics of an organism

Determined by an interaction between genes(genotype) and environment
(observable features)

[Link] Gabr 149

 True breeding:

A homozygous organism which will always produce the same offspring when
crossed with another true breeding organism for the same characteristic.
which means the parents must be both dominant or both recessive.
Monohybrid
cross

A genetic cross where only one gene for one characteristic is considered.

r
ab
lG
Parental generation: in a genetic diagram , these are the first individuals to be crossed. purpeeding
F1 generation: is the offspring resulting from a cross between an organism with a homozygous dominant
iha
genotype, and one with a homozygous recessive genotype. . If the parents are not homozygous the term offspring 1
is used.
F2 generation:is the offspring resulting from a cross between two F1 (heterozygous) organisms. If the individuals in
parental generation were not homozygous , then the term offspring 2 is used .
.N

Test cross is a genetic cross in which an organism

v showing a characteristic caused by a dominant allele is crossed with an
organism that is homozygous recessive; the phenotypes of the offspring can be
a guide to whether the first organism is homozygous or heterozygous.
Dr

[Link] Gabr 150

Multiple alleles A
O

FATTOR
So far, we have considered just two alleles, or varieties, of any one gene. B
Most genes, however, have more than two
TNT O
D
alleles.
An example of this situation, known as multiple
alleles, is the gene for human blood groups.
The four blood groups A, B, AB and O are all
determined by a single gene. Three alleles of this
gene exist, IA, IB, and Io.
Of these, IA and IB are codominant,
whereas Io is recessive to both IA and IB.

r
As a diploid cell can carry only two alleles, the possible genotypes and phenotypes

ab
are as shown in Table 16.2.

Autosomes
Sex linkage:

The chromosomes
lG
iha
found in all body cells
carrying information
controlling body
characteristics but
.N

don’t determine the

gender/ sex.

Sex linked disease;

Dr

Genetic disease controlled by faulty allele ( resulting from a mutated

allele), carried on a sex chromosome (x-chromosome) , making it
more common in males than in females and is inherited on X-
chromosome to the next generation from the parent and not on the
other chromosome ( Y chromosome) .

[Link] Gabr 151

 Recessive sex linked diseases, are more common in males than females, as males have only
one X chromosome and thus can’t be heterozygous carriers, so if they inherit a recessive

r
allele on X chromosome from the mother they are diseased.

ab
Examples: Factor 8 not present ..due to mutation…code for recessive
allele allel.
anormal
d
lG code
Hemophilia F8 …..factor VIII
ph Dominant
Example 2 : Haemophilia.
iha
A condition caused by gene mutation which affects production of a
certain protein that is important in clotting called factor VIII.
The disease is recessive, h...this recessive allele results in lack of
factor VIII.
The factor VIII gene is said to be sex linked. A sex-linked gene is
.N

one that is found on a part of the X chromosome not matched by

the Y, and therefore not found on the Y chromosome.
Dr

people with haemophilia tend to bleed internally into joints and

[Link] can lead to chronic pain and arthritis.

male haemophilic Carrier female

h H4
XY XX
in nh it n.
XX, XX , XY , XY

[Link] Gabr 152

8/8/2023
Part 2
Gene linkage
Recombinant alleles

Dr. Nihal Gabr

1. Allele
2. Gene
3. Locus
4. Genotype
5. Phenotype
6. True breeding ………..BBx BB or bb x bb
7. F 1 generation ….offsprings resulting from crossing between homozygous parents
8. Monohybrid cross
Hetero x hetero ……………….3: 1
Hetero x homo recessive ……….1;1
Homo dominant X homo recessive ….100 % dominant

BBx bb
Bb x BB Offspring 2 genotypes
Offspring 1 genotype Bb
BB, Bb ( F2 generation)
( f1 generation )
X
Bb x Bb
Offspring 2 genotypes BB, Bb, bb
( F2 generation)
 Gene of height ….has 2 forms ……………tall / short
Gene for ear lobe …..has 2 forms ……..lobbed / non lobed
Gene for blood group ….has 4 forms ……..A / B / AB / O

Multiple ( more than 2 alleles controlling feature )

Most genes have more than two alleles / more than two forms ……
Blood group …..three alleles
IA, IB,I
D

H ….normal blood clotting

Sex linked ….color blindness / haemophilia
h …haemophilia
male haemophilic Carrier female HH n
XX XY
h Hh
XY XX
**,y,y
Hh
xx,
#h h4 H h
XX, XX, XY, XY
Carrier female Male diseased
Female diseased
 Monohybrid ' Inheritance one characteristics at the same time.
Inheriting one gene.

Mother
Genotype Aa

Homologous
S -
A Gametes
A a
pair

S -
a

Father

S A Genotype AA
Gametes
A
-

A
S A
-

A A

A AA Ad

A AA No
 Inheritance two pairs of contrasting characteristics at the same time.
Dihybrid cross
Inheriting two genes .

'

Gene of stem color

↓
Tomato :

a
A
' Stem color , leaf shape
S A
Stem : Leaf shape W
-

Gene of stem color

A= purple stem D= leaves with jagged edges
S

Gene for leaf shape

a a = allele for green stem d=leaves with smooth edges

d
-

These two genes controlling two different characteristics

are not linked being found on two different chromosomes .
D
Gene for leaf shape Purple stem with Purple stem with
d jagged leaves jagged leaves

Not linked AaDd AaDd

On different chromosomes Gametes Gametes
AD. Ad. aD. ad AD. Ad. aD. ad
Assort independently
Different recombination
9:3;3:1 AD Ad aD ad
9 purple jagged
AD AADD AADd AaDD AaDd
3 purple smooth
3 green jagged Ad AAdd AaDd Aadd
AADd
1 green smooth
aD AaDD AaDd aaDD aaDd
9:3;3:1
ad AaDd Aadd aaDd aadd
 Green stem Purple stem
Smooth edged Jagged leaves Independent assortment
As the genes are not linked
Parental Genotype aadd AaDd Found on different
chromosomes
Gametes
ad AD Ad aD ad

Offsprings genotype AaDd, Aadd, aaDd, aadd

1:1;1:1

Not linked found on different chromosomes ( recombinant alleles due to independent assortment )

Heterozygous x heterozygous
AaDd x AaDd……………………9:3;3;1

Heterozygous x homozygous receive

AaDd x aadd……………………1:1;1:1
 AD, Ad, aD, ad

The explanation for the coming ratios will be

independent / random assortment .( as they are not
linked )
Where the alleles of the two genes segregate in
meiosis independently of one another to produce
four genetically different gamete types , because
they are on different chromosomes.

In tomato plants, there is a gene that codes for stem colour. This gene has two alleles:
stem colour gene
A = allele for purple stem a = allele for green stem

A different gene, at a different locus on a different chromosome, codes for leaf shape. Again, there are two alleles:
leaf shape gene
D = allele for cut leaves (jagged edges)
d = allele for potato leaves (smooth edges).
At metaphase of meiosis I, the pairs of homologous chromosomes line up on the equator independently of each other.
For two pairs of chromosomes, there are two possible orientations (Figure 16.18).
At the end of meiosis II, each orientation gives two
types of gamete. There are therefore four types of gamete altogether.
The plant with green stem and potato leaves must have the genotype aadd. Each of its gametes will contain one a
allele and one d allele. All of the gametes will have the genotype ad
Autosomal linkage

If two genes are closely located on the same chromsome ….less likely to be separated during crossing over

When genes for two different characteristics are found on the same
chromosome and close together …..so they linked and inherited as a
single unit

On two different
Cant assort
chromosomes
independently Cant assort independently
Assort independently
Less likely to be Loosely / non linked
Different recombinations
separated by 9;3;3;1 Crossing over …different

crossing over 1;1;1;1; recombinations

On same chromosome
So no different recombination
And if present …rare ..due to crossing over
Produce ratio of monohybrid. 3: 1
 2 Genes
Not linked

Different chromosomes On same chromosome

Recombinant alleles Close together Not linked

Independent assortment Autosomal linkage Higher probability
Linked to produce
9:3;;3;1
1;1;1;1 recombinant
Monohybrid cross ratio alleles from
3;1 Crossing over
1;1
Low probability to be separated by crossing over

Autosomal No ratio
linkage
 Same chromosome ….no independent assortment
Drosophila

Broad abdomen B ……narrow abdomen b

Long wings L ………short vestigial wings l

Parental Broad abdomen Narrow abdomen

phenotype Long wings Short wing

↑f
B
B

Genotype BBLL bbll

BL bl
Gametes
W
F1 genotype BbLl
• Genes on same chromosome Offsprings Phenotype
Cant be separated by independent
assortment F2 generation
BL bl
• Close together
3: 1
Linked
BL 3Broad long : 1
No crossing over ( rare ) BBLL BbLl
No different recombination -
narrow short
Ratio 3;1 / 1:1
bl BbLl bbll
As monohybrid
Drosphila Linked genes ..found on same chromosome and close to each other so
less likely to be separated by crossing over .

Stripes Ebony
Normal antenna Aristopedia

EEAA eeaa
( EA)( EA) ( ea) ( ea)

EA ea

EeAa= (EA) ( ea)

Striped body and normal antenna
EA ea

EA ( EA) ( EA) ( EA) ( ea)

-
3:1

ea (EA) (ea) ( ea) (ea)

 Identifying to genes Read

Genes found on same chromosome Genes are not found on the same chromosome
Close together Not linked
Gene linked / autosomal linkage
So recombinant alleles
9:3;3;1 or 1;1;1;1
Random assortment
Where alleles of the 2 genes segregate in
Where the genes are closely linked ( located close to
meiosis independently of one another ….as
each other on same chromosome ….the number of
genes are found on different chromosomes
recombination events which separate them rarely
occur …so they are mostly inherited as one unit
( monohybrid ratio)
NO INDEPENDENT ASSORTMENT
 Identifying to genes ( found on same chromosome )
Linked No independent assortment

Non linked

When genes are more loosely linked ( located

When genes are closely linked ( located close to each
further apart from each other on the same
other on the same chromosome …..the number of
chromosome) ..the number of recombination
recombination events which separate them rarely
events which separate them occur during
occur ….so inherited mostly as one unit
meiosis will be higher
( monohybrid ratio)
Crossing over value ( COV) …..is the percentage of
offsprings that belong to recombination class
For this example : 6+ 6= 12%

COV smaller ……the closer the loci are together

COV larger …..the further the loci are together
 Inherited Change

38 May/ June 2018 Syllabus- 9700 Paper 42

No independent assortment

r
Autosomal ….not on sex chromosomes.
Linkages …linked genes means they are found on the same chromosome

ab
and inherited as one unit

FFGG ffgg

lG FfGg

Genetics
iha
Parental phenotype Purple flower Purple flower
Long pollen grain Long pollen grain

Genotype FfGg FfGg

.N

( FG) ( fg) ( FG) ( fg)

In
By In t y
Dr

F2 genotype ( FG) ( FG) , ( FG) ( fg) , ( FG)( fg) , ( fg) ( fg)

F2 phenotype …purple long , purple long , purple long , red round
…………………….3 purple long : 1 red round

Dr. Nihal Gabr 494 A2 Cambridge

 Inherited Change

Parental
phenotype

r
Recombinant

ab
classes

Parental
phenotype

lG
Not linked , dont show the ratio of 9:3;3:1

Genetics
iha
Homozygous recessive
.N
Dr

Dr. Nihal Gabr 495 A2 Cambridge

 Inherited Change

Ifay x ffgy
(FG) (fq) x (fq)

Parental classes

r
ab
Recombinant classes

Parental classes

lG
Genetics
iha
.N

62x100

487
12.7=13
Dr

Low crossing over value …indicates that genes are close together

Dr. Nihal Gabr 496 A2 Cambridge

9/8/2023
Part 3
Practice
Chi square
Epistasis
 Dihybrid
Inheriting two genes at a time

Found on two different chromosomes

Found on the same chromosome
Recombinant alleles
Due to independent assortment
EeRr (ER) (er) Autosomal linkage
Heterozygous x heterozygous
9:3:3:1 ER er No independent assortment

Heterozygous X homozygous recessive Heterozygous x heterozygous

1:1:1:1 AaBb 3:1
(AB) ( ab)

AB ab Heterozygous x homozygous recessive

These genes are not linked . 1:1
As they are found on different chromosomes Recombinant classes / alleles
So they can separate by random /independent assortment Only reason is crossing over
Where the alleles of the two genes segregate in meiosis
COV
independently of one another
To produce 4 genetically 4 different gametes
Larger Smaller
AaBb The further the loci of The closer the loci
AB Ab aB ab the two genes of two genes
 Purple , round 128 Parental phenotype

Purple , jagged 7 Purple , jagged

Recombinant classes
Green round 8 Green round

Green jagged
50 Parental phenotype

Dominant …..purple / round

Recessive ….green / jagged
 Observed different from expected : By chance
1. Small sample Difference is not
2. Using tiny organisms might die / fly away ….drosophila significant
3. Process random / environmental factor
4. Unexpected ratio means that genes examined are found both on same
chromosome ( linked / linkage ) …not by chance , difference is significant
5. Epistasis
-

Read 2
1. Expected value ( O-E) 16
Offspring 144…parents were heterozygous , independent
x2 I E
= 0 -

assortment Purple jagged

Phenotype Purple smooth Green jagged Green smooth
Expectation 9:3;3;1
Purple , jagged ……….9/16x 144= 81 Observed 26 24 8
86
Purple , smooth ……3/16X 144= 27
Green jagged …….3/16 X 144= 27 Expected 81 27. 27. 9
Green smooth …..1/16 X 144= 9
O-E 5……………..-1. -3. -1
2. Observes
(O-E)
2 25. 1. 9. 1
Purple jagged = 86
Purple smooth 26 2
(O-E)
Green jagged 24
E
Green smooth 8
 1. X2 is the chi square ….used when compare observed results with expected results

2. Students T test ……used compare the mean of two given samples.

3. Spearman’s rank correlation coefficient. when you have two ranked variables, and you
want to see whether the two variables covary; whether, as one variable increases, the other
variable tends to increase or decrease.
Null hypotehsis
Ay klam Number of sample

At Degree of
freedom….
Calculated Critical Value
Calculated
value is Below given ( X2 or value is above
critical value t or Rs) at p= critical value
0.05 ( 5%)
Accept null hypothesis
Reject null hypothesis
Difference is due to chance ,
Accept experimental hypothesis
no significant difference
Difference is not due chance
Significant difference
Step 1 ….expected
Step 2 …observed
Step 3 ..degree of freedom = number of classes -1 = 4-1 = 3
Step 4
Relate the critical value at P = 0.05 ..which is 7.82
Calculated value is 0.79 which is below the critical value
So null hypothesis is accepted
There is no significant difference
 1 A 1 : 1 : 1 : 1 ratio is typical of a dihybrid cross between a heterozygous organism and a
homozygous recessive organism where the alleles
show complete dominance.
If the plant with green stem and potato leaves so has genotype aadd....so all gametes will have the
genotype ad

Green stem Purple stem

Parental phenotypes:
Potato leaves Cut leaves
Parental genotypes: aadd AaDd

ad
Gametes : AD Ad aD

Offsprings genotypes: Gametes AD Ad aD ad

ad AaDd Aadd aaDd aadd

ad ad AaDd Aadd aaDd aadd

ad AaDd Aadd aaDd aadd

r
ad AaDd Aadd aaDd aadd

ab
Read
Purple stem Purple stem Green stem Green stem
Cut leaves Potato leaves cut leaves Potato leaves

2
lG 1: 1: 1: 1

This 9 : 3 : 3 : 1 ratio is typical of a dihybrid cross between two heterozygous organisms where the
iha
two alleles show complete dominance and where the genes are on different chromosomes.
If the parent plants are with purple stem and cut leaves so has genotype AaDd....so gametes will
have the genotype AD, Ad,aD , or ad.
.N

Purple stem Purple stem

Parental phenotypes: Cut leaves
Cut leaves
AaDd AaDd
Parental genotypes:
Dr

Gametes :
Gametes AD Ad aD ad
Offsprings genotypes:
AD AADD AADd AaDD AaDd

Ad AADd AAdd AaDd Aadd

aD AaDD AaDd aaDD aaDd

ad AaDd Aadd aaDd aadd

Purple stem Purple stem Green stem Green stem

Cut leaves Potato leaves cut leaves Potato leaves

Read 9: 3: 3: 1

[Link] Gabr 154

 Dihybrid ….genes found on different
Interaction between
loci Epistasis chromosomes….independent assortment

You have already seen interactions between alleles at the same locus, namely: Hetero X hetero
1. codominant alleles in flower colour in snapdragons
2. dominant and recessive alleles in tomato plant stem colour 9;3;3;1
3. multiple alleles in the inheritance of the ABO blood groups.

There are also cases where different loci interact to affect one phenotypic character.
In the inheritance of feather colour in chickens, there is an interaction between two gene loci, I/i and C/c.
Individuals carrying the dominant allele, I, have white feathers even if they also carry the dominant allele, C,
for coloured feathers.
Birds that are homozygous recessive are also white iicc.

1 White Leghorn chickens have the genotype IICC,

while white Wyandotte chickens have the genotype iicc. A white Leghorn is crossed with a white
Wyandotte.

r
ab
Parental phenotypes: White White
I …dominant over C /c …white ….
Parental genotypes: IICC iicc
C …dominant …colored …only
Gametes :

Offsprings (F1)
genotypes:
IC
lG All IiCc
ic

expressed if I not present

All white
iha
Offsprings phenotypes;

2 These offspring are interbred to give another generation.

The usual 9 : 3 : 3 : 1 ratio expected in this generation has been modified to (9+3+1) : 3 giving
13 white : 3 coloured.
.N

Parental phenotypes: White White

Parental genotypes: IiCc IiCc

Dr

IC Ic iC ic IC Ic iC ic
Gametes :

Offsprings (F1) Gametes IC Ic iC ic

genotypes:
IC IICC IICc NiiCC IiCc
Offsprings phenotypes;
Ic IICc IIcc RiiCc IiCc

iC IiCC Iicc iiCC iiCc

ic IiCc Iicc iiCc iicc

White Coloured

13: 3

[Link] Gabr 155

 3 A different interaction is shown by the inheritance of flower colour in Salvia.
A pure breeding, pink flowered variety of Salvia was crossed with a pure-breeding, white-
flowered variety. The offspring had purple flowers.
Interbreeding these offspring to give another generation resulted in purple, pink and white-
flowered plants in a ratio of 9 : 3 : 4.
Two loci, A/a and B/b, on different chromosomes are involved

Genotype Phenotype
The homozyote recessive aa affects the B/b locus.
A_B_ Purple Neither the dominant allele, B, for purple flower colour,nor the
recessive allele, b, for pink flower colour can be
A_bb Pink expressed in the absence of a dominant A allele.

B =purple
aaB- White

aabb White Only expressed in

b= pink
presence of A

r
Parental phenotypes: Purple Purple

ab
Parental genotypes: AaBb AaBb

Gametes :
Gametes AB Ab aB ab
Offsprings (F1)
genotypes:

Offsprings phenotypes;
AB

Ab

aB
lG AABB

AABb

AaBB
AABb

AAbb

AaBb
AaBB

AaBb

aaBB
AaBb

Aabb

aaBb
iha
ab AaBb Aabb aaBb aabb

Purple Pink White

.N

9: 3 4

Autosomal linkage:
Dr

4. Gene linkage: when genes for two different characteristics are found on the same
chromosome and are close together so they are linked and inherited as a single
unit....so all genes on a single chromosome from a linkage group
I.e When two or more gene loci are on the same chromosome, they do not assort
independently in meiosis as they would if they were on different chromosomes. The
genes are said to be linked

Linkage is the presence

of two genes on the
same
chromosome, so that they
tend to be inherited
together and do not assort
independently.
[Link] Gabr 156
14/ 8/2023
Part 4
Mutation
Effect of changes
 Read
Gene mutation

Random change in base sequence of DNA during DNA replication ….thus producing new allele ..leading
to protein of different function / shape .

Causes of muatation
Exposure to mutagens : chemicals as tobacco smoke and mustard gas
Physical such U.V rays , x rays

Types of mutation
Shift reading
-- Shift reading
backward one
Point mutation Frame shift place forward one place
( substitution )
Change in one single base of DNA code
~ Addition
-
Deletion
Has one of three effects
One nucleotide is
One extra
missed out ..so the
Silent mutation Non sense Mis sense entire base sequence is nucleotide is
The base altered ..coding for an inserted ..so the
The base The base
substitution can entirely different entire base
substitution is substitution can be
be mis sense protein …where all sequence is altered
silent ..where the non sense . Where amino acids are
mutation where after
altered codon the altered codon different after mutation
the altered mutation ..code for
code for same corresponds to a …so 3D shape of
codon , code for protein is changed
different protein
amino acid stop codon
another amino
Gene mutation

1. Definition of gene mutation …new allele

2. Resulting in change in mRNA codons
3. So different tRNA with different anticodons will be involved , as the t RNA will carry a different
amino acid to ribosome
4. So incorrect amino acid will be incorporated in the growing polypeptide chain , so change in the
sequence of amino acids ..so change primary structure
5. So affects the over all folding so different 3D shape ( tertiary structure )
6. Change in shape of active site ..so substrate can no longer bind to active site .

Examples :

Sickle cell anaemia

Albinism
Huntington’s disease
Haemophilia

Gene ……protein ….phenotype

 Example of substitution mutation Explain how a single change in DNA triplet in sixth codon of
gene coding for beta chain of a-hemoglobin could lead to

⑤
sickle cell anaemia
n Temp.
GTA
Imp
cuding G A A

Template
Non coding triplet Code
-
·
Changes
· mRNA change.
mRNA tRNAchange.
1. Sickle cell
·

·
amino acid Change
anaemia i group change.
· Different bonding/
DifferentSolubility
1. Gene mutation : where there is a change in the base sequence so result in production of new allele
Diff 30 Structure
2. This is an example of substitution: where Thymine base is six triplet is replaced by adenine on the template
·

strand of DNA ….( CTT become CAT ) or (GAA become GTA…non template / coding strand )

3. This will result in change in mRNA codon ( GAA become GUA)

4. Different tRNA with different anticodon, and carrying different amino acid to the ribosome
HBB gene ..gene coding for amino acid
( glutamic acid is replaces by Valine )
(nanye zuStructure sequence in beta globin polypeptide in
Hb…found on short arm of chromsome
5. So change in the sequence of amino acid in BETA globin chain .
11.
Where the R group of valine is hydrophobic while that of glutamic acid is hydrophilic where these R groups are
facing the cytosol
Change in tertiary structure
So haemoglobin will less soluble
So less able to bind to oxygen
HBB gene …..coding for amino acid sequence in beta globin polypeptide in haemoglobin
FOUND ON SHORT ARM OF THE CHROMOSOME 11.

The person with one copy of the normal allele HBB allele
……and one copy of the sickle cell allele …..
A) make normal haemoglobin and some sickle cell
haemoglobin
B) they generally show no symptoms unless they are in
conditions where there is excessive oxygen demand by
muscles as during exercising very vigorously.

Features of sickle cell anaemia

RBCs become sickle shaped

Less / smaller surface area
Haemoglobin is less soluble
So less able to bind to oxygen
So less oxygen transported to body cells
So less aerobic respiration..less energy ….anaemia
RBCs stick together and block capillaries
 2. Albinism

Mutation is autosomal recessive

Homozygous for the recessive allele show the albinism

Dark pigment
Tyrosinase Tyrosinase
Tyrosine …………………..DOPA ……………..Dopaquinone ………….melanin
Amino acid

TYR gene ……code for tyrosinase enzyme ….dominant allele

Tyrosinase is responsible for converting tyrosine into melanin

Mutation into recessive allele ….no tyrosinase ….no melanin ….albinism

Features of albinism

Pale white skin

Pale / white hair Tyrosinase is also present in plant as well as
Pale blue / pink irises in eyes animal tissue .
Pupils of eye appear red Action of the enzyme can be seen in-blackening
Poor vision of potato slice if left exposed to air
Jerky movement of the eye
3. Huntington’s disease.

HTT gene ….Huntingtin protein

Gene normally is found on chromosome number 4 ……coding for the huntingtin protein ..plays an
important role in development of nerve cells in BRAIN

Huntington’s disease is an dominant autosomal disorder …….that a mutation in only one of the two
copies of the gene is sufficient to cause the disease .

Normal person …normal gene …has small number of repeated triplet bases CAG……have 10 to
35 repeats of CAG

Mutation

The number of these repeats of the triplets CAG will increase …thus longer than usual huntigtin
protein being produced ..abnormal protein clumps in neurones …..disrupt the normal function of
cells

Brain progressive disorder caused by mutation ( is autosomal dominant )

So most people having this disease are heterozygous Hh ….involuntary movements and progressive mental
deterioration and cognitive changes , motor control inhibited ….most commonly in middle age ..so people might
already have children before they know that they themselves have the -condition
The more the repeats ( stutters ………..the earlier the onset of the condition )

Lose ability to walk, think clearly , to control movements.

 4. F8 gene :
Gene coding for coagulation factor 8VIII
Sex linked ( recessive ) disorder
Protein synthesized in liver cells
Secreted in blood plasma …needed for clotting

Abnormal allele … result in abnormal form of factor VIII protein , less or no factor VIII at all ..so blood
can’t clot normally ….excessive bleeding from even small injury ….this is called haemophilia

F8 gene is found on a non homologous region of the X chromosome …sex linked

So males have only one copy and cant mask effect of faulty alleles with a normal one
Female heterozygous ….without showing any symptoms at all . As only one copy of the normal gene is
required to result in synthesis of enough factor VIII.

5. The height of some plants is partially controlled by their genes

For example, tallness in pea plants is affected by a gene with two alleles; if the dominant allele, Le, is present, the
plants can grow tall, but plants homozygous for the recessive allele, le, always remain short.

The dominant allele of this gene regulates the synthesis of the last enzyme in a pathway that produces an active
form of gibberellin, GA1.
Active gibberellin stimulates cell division and cell elongation in the stem, so causing the plant to grow tall.
A substitution mutation in this gene gives rise to a change from alanine to threonine in the primary structure
of the enzyme near its active site, producing a non-functional enzyme.

This mutation has given rise to the recessive allele, le. Homozygous plants, lele, are genetically dwarf as they
do not have the active form of gibberellin. Applying active gibberellin to plants which would normally remain
short, such as cabbages, can stimulate them to grow tall.

1. Definition of mutation
2. Aware by different types of mutation
• substitution ( silent ….change in the last base ion codon ) / non sense …stop codon / mis sense …another
amino acid
• Frame shift ( deletion / addition )
3. Steps of mutation ….faulty protein
4. Examples of mutation

1. Gene coding for beta globin in haemoglobin …..HBB

Found on chromosome 11 ( short arm )
Substitution mutation
Codominance
Glutamic acid …valine
Less soluble
2. Gene coding for tyrosinase enzyme …TYR …….mutation leads to albinism
• autosomal recessive( t )
• Tyrosinase cataylse conversion of tyrosine to produce melanin
• recessive Mutation ..no tyrosinase …no melanin

3. Huntington’s disease
• Gene coding for Huntington protein …HTT…….( chromosome number 4) mutation
• Autosomal dominant
• Number of repeats CAG increase than normal range ( 10 -35)
• • Person is hetero Hh…diseased
• Cognitive changes / motor control inhibited

4. Gene coding for factor 8 ….F8 gene ….mutation

• sex linked characteristic on X chromosome ( recessive )
• More common in male ….no other copy to mask the faulty allele
• Factor 8 protein needed in blood clotting
• So mutation result in haemophilia .

5. Gene coding for gibberellin ..Le …( dominant ) code for last enzyme that is responsible for production
of active GA1
Substitution mutation ( alanine by threonine ) …le …recessive ….dwarf
15/8/2023
Part 5
Gene control

Dr. Nihal Gabr

 Gene control
Using transcription factor (protein molecule )
Regulatory gene Structural gene

Gene Promoter Operator Gene 1 Gene 2 Gene 3

Gene that code for a protein , regulate the RNA polymerase

Genes that code for structural

expression of another genes ……code for
proteins used by cell such as Lac z
transcription factor ( TF ) ………bind to a
gene …code for beta galactosidase
promoter ….either stop or allow RNA
enzyme ( lactase )
polymerase to bind ( i.e switch the gene on
or of )
Prokaryotes Lac operon
Trp operon

Substrate= inducer
A . Lac Operon
A) code for inducible enzymes ( enzymes synthesised only when the substrate is present )

OFF ON
Lac i

In absence of lactose
1. Regulatory gene lac i ( gene controlling the expression In presence of lactose

of structural genes) . 1. Lactose bind to the repressor protein

2. Code for repressor protein . 2. Causing repressor protein changes its shape so wont
3. Repressor protein bind to the operator ( block the promoter be able to bind to the operator
area ) 3. Thus allowing RNA polymerase to bind to the
4. RNA polymerase unable to bind to the promoter
promoter …allowing transcription of structural
5. Prevent structural gene transcription
genes ..code for the lactose digesting enzymes
6. So no mRNA ….no lactose digesting enzyme
Trp operon B) code for a repressible enzyme ( enzyme thats normally produced , and whose synthesis is
prevented by the presence of an effector )
Substrate= repressor

ON

Product
Tryptophan

OFF '
Inducible enzyme Off……On Repressible enzyme ON ……OFF

• not made all the time / not constitutive

• Gene turned on when needed • normally switched on ( produced

• The presence of substrate which induce its continuously )

transcription / normally switched off • Unless there is a repressor where the

• Where inducer bind to transcription factor / synthesis can be prevented by binding to

repressor protein repressor protein to bind to operator

• Beta galactosidase …..coded by lac Example : repressor enzyme involved in the

Z ..cataylse the hydrolysis of lactose into
glucose and galactose synthesis of tryptophan ( trp Operon)

• Lactose permease enzyme ..coded by lac Y

( help the cells absorb lactose / increase
permeability of membrane to lactose )

• Transacetylase …lac A

Repressible enzyme
Lac operon
Normally coded by genes normally switched on
An example of inducible enzyme ( off ….on ) ( On ..OFF)
Lactose + repressor protein ……..can’t bind to operator Effector ( repressor ) bind to repressor protein
RNA polymerase bind to promoter Repressor protein bind to operator ..RNA

Gene switched on polymerase cant bind to promoter

 A cluster of gene functioning together to make the enzyme breaking down lactose called lac operon.

How the lac operon

works
The regulatory gene codes for a protein called the repressor protein .
The repressor protein has two different binding sites
One that binds to lactose ( allolactose)
One that binds to the operator
If there is no lactose present in the medium on which [Link] growing , the repressor protein will
bind to the operator.
Because the operator and the promoter are close together, the repressor protein covers part of the
promoter when it binds to the operator. This blocks the site on the promoter to which RNA
polymerase normally attaches

Lactose absent Lactose present

r
ab
lG
iha
.N
Dr

B)When lactose is present :

A) In absence of lactose lactose is taken up by the bacterium
• Regulatory gene (gene controlling the Lactose binds to the repressor Protein.
expression of structural gene), Causing repressor protein to change its
• codes for Repressor protein, shape
• this repressor binds to operator part of DNA this repressor cant bind to operator part of
Thus blocking the promoter , DNA
• so RNA polymerase unable to bind to Thus allowing the binding of mRNA
promoter , polymerase , thus allowing the transcription
• so preventing the coding (transcription) for of the three structural genes for lactose
lactose digesting enzymes being structural gene-not-transcribed. digesting enzymes. So mRNA
transcribed/ preventing gene expression produced so lactose digesting enzymes.
• So no mRNA and no lactose digesting
enzymes. Where the repressor only binds in absence of lactose

[Link] Gabr 170

 Gene control in eukaryote
About 10% of our genes are regulatory genes …code for transcription factors

Can form part of protein complex, bind to the DNA at the

TF
promoter … that enables the RNA polymerase to bind to
DNA at the promoter and
A) transcription of gene initiated on DNA to mRNA
( activator ) / gene is switched on TF
B) transcription prevent ( repressor) / gene is switched off

TF is to regulate ( turn on and off ) the genes in order that they are
expressed in the right time and in the right cell and in the right amount
through out our life time

Allow response to environmental stimuli .

As correct genes expressed in response to very high temperature . X

A single transcription factor cant initiate transcription …many factors are needed ….once the first
TF binds to promoter …secondary factor bind in predetermined order….form Transcription complex
….once complex is created …RNA polymerase can bind to promoter and start transcription .
 Regulatory gene expression Read

RNAPIf
gene
E
prom orgen qu
off ON
N off
entere
Eukaryote
Prokaryote
Activation of genes by gibberellin

Role of gibberellins in seed germination

1. When the water enters the seed ..stimulate the gibberellin

LeLe by the embryo
2. Gibberellin diffuse to aleurone layer 4. Alpha amylase to move into the
endosperm

3. DELLA protein , inhibit binding of the transcription Catalyze the hydrolysis of starch

factor ( PIF ) phytochrome interacting protein …to the gene into maltose

promoter
• Giberrellin break down DELLA protein ….by binding to
gibberellin receptor ( G1D1) within the cell and which
activate a large complex of enzymes that are able to
break down DELLA proteins .
• Allowing TF PIF to bind to its target promoter and
transcription of gene takes place …resulting in production
of amylase enzyme

Genes promotes growth

 3. Gibberellin’s Gene for heigh of plant …..Le ……….dominant allele …..code for the production of
an active form of gibberellin GA1. Water is needed to stimulate the production of
…………………………………..le………..recessive allele gibberellin by the embryo
LeLe ….tall Water needed for hydrolysis

⑤
lele…..short ( dwarf) Aleurone layer Where starch is broken into maltose
Water is needed as a medium for reactions
Regulate the synthesis
of active form of
Embryo
gibberellin Gibberellin
Endosperm
Amylase
Gibberellin

Starch Maltose
Maltase
Glucose

homozygous recessive lele

….apply to it active gibberellin ,
1. Water is absorbed by the seed will be stimulated to grow tall
Stimulate the production of gibberellin by the embryo within the seed
2. Gibberellin diffuse into aleurone layer .
3. Stimulate the production of amylase enzyme
4. Amylase move into the endosperm cataylse the break down of starch into maltose
5. Then maltlase stimulate the break down of maltose into glucose
6. Glucose transported into the embryo , providing energy as the embryo begins to grow
Examples “ 3 Gibberellin synthesis

1. Mutant alleles that don’t code for the enzymes required to make gibberellins have been incorporated
into varieties of cereal to give dwarf varieties. This has increased grain yield as dwarf varieties use less
energy for growing and maintaining stems and leaves .

2. In this process the genetic improvement , a high yielding commercial variety is crossed with a variety
showing the desired characteristic, the seed of the next generation are grown and then tested to see if
they have the desired feature . These hybrids are then crossed with high-yielding variety. This
backcrossing occurs for several generations before the new variety is made available to farmers .
 Inherited Change

r
ab
87
lG
October / November 2022 Syllabus - 9700 Paper 42
iha
.N

Regulatory gene
Dr

Code for inactive

repressor Substrate= repressor

Lac i LOCA lat2 LOCY

Regulatory gene code for Substrate= inducer

active repressor protein
Dr. Nihal Gabr 673 A2 Cambridge
 Inherited Change

r
ab
Trp operon Regulatory gene Code for inactive repressor .
And lac operon has a regulatory gene that codes for active repressor protein .

lG
Trp operon has attenuator but lac operon has no attenuator .
Lac operon has fewer structural genes 3 vs 5
Lac operon uses an inducer
iha
Trp operon uses a repressor
Lactose presence cause genes to be switched on
Tryptophan presence cause the genes not to be expressed
.N

Share the same one promoter

/ All enzymes work together
Dr

Dr. Nihal Gabr 674 A2 Cambridge

 Inherited Change

Structural gene code for enzymes / structural protein

Regulatory gene code for proteins / transcription factors .

r
ab
lG
Normally the gene coding for tryptophan synthase is switched on
In presence of repressor( tryptophan ) the synthesis of the
enzyme will prevented by binding to repressor protein
iha
So bind to operator
So tryptophan stop gene transcription
.N

• normally switched on ( produced continuously )

• Unless there is a repressor where the synthesis can be prevented
by binding to repressor protein to bind to operator
Dr

Dr. Nihal Gabr 675 A2 Cambridge

 Inherited Change

Gibberellin bind to receptors

Activate a complex of enzymes
Cataylse break down of DELLA protein

r
So DELLA protein is no longer binding to PIF

ab
So PIF can bind to promoter region of DNA
Initiate transcription of genes controlling growth

lG
iha
.N

Transcription factor
Dr

Dr. Nihal Gabr 676 A2 Cambridge

 Inherited Change

12 May/ June 2014 Syllabus- 9700 Paper 42

Color blindness
Haemophilia

r
NF allele = A

ab
Normal allele = a

lG
Genetics
Aa aa
A
a O

Aa, aa
iha
Has NF, unaffected
.N

Spontaneous / random
mutation of gene
Dr

Dr. Nihal Gabr 522 A2 Cambridge

 Inherited Change

Skills Compresses nerve .

Damage to myelin sheath / Schwann cells.
Preventing setting of saltatory conduction.
Stop Na+ / K+ pump action .
Block blood supply .

r
Less oxygen supply and ATP production.

ab
May stop the opening of ion channels .

13 Oct/ Nov 2014

lG
Syllabus- 9700 Paper 41
iha

Genetics
.N
Dr

Dr. Nihal Gabr 523 A2 Cambridge

 Inherited Change

21 March 2016 Syllabus- 9700 Paper 42

Removed
from
syllabus

r
ab
Genetics (Gametogenesis)
lG
iha
.N
Dr

Dr. Nihal Gabr 536 A2 Cambridge

 Inherited Change

r
ab
Hetero
parent

lG Hetero
offspring
iha
.N
Dr

in

Dr. Nihal Gabr 537 A2 Cambridge

 Inherited Change

All parents A, B , C

r
A at 3 loci P, Q ,R

ab
B at 2 loci P, S
C at 3 loci P,Q,R.

Genetics
Off spring 5 at loci P and R

lG
iha
.N
Dr

Dr. Nihal Gabr 538 A2 Cambridge

 Inherited Change

r
ab
Genetics
lG
iha
40 Oct/Nov 2018 Syllabus- 9700 Paper 41

Dihybrid
.N

GGRR x ggrr
GgRr
Not found on sex chromosomes
Dr

Chi square/ x test

2-

9:3:3:1

Dr. Nihal Gabr 572 A2 Cambridge

 Inherited Change

GgRr x ggrr

r
ab
Parents
Genotype GgRr ggrr

Gametes GR Gr gR gr gr

Offsprings
Genotype
lG GgRr, Ggrr, ggRr, ggrr
1:1:1:1
iha
Expected
On different chromosomes
Independent assortment
.N
Dr

Dr. Nihal Gabr 573 A2 Cambridge

 Inherited Change

Observed

Parental phenotype

Recombinant classes

r
ab
Parental phenotype

Expected is 1:1:1:1

lG
But the majority show parental phenotype
And the genes for eye color and body color are linked found on
same chromosome.
iha
G+R linked , g+r linked
So no independent assortment
Only crossing over produced recombinant classes
And COV ( number of recombinant is low ) indicating that genes
.N

are close .
Dr

Dr. Nihal Gabr 574 A2 Cambridge