CH 5 - Inheritance

A2 Biology 5) Inherited Change June 2024
Chromosomes
Although only 2 nm wide, the total length of DNA in an adult human cell is about 1.8 m long so in
order to be contained in the nucleus the DNA is coiled around a basic globular protein called histone.
The combination of DNA and proteins is called chromatin.

Ø Euchromatin which is loosely coiled. (this is where active genes are)
Ø Heterochromatin is the tightly coiled chromatin containing inactive genes.
Just before a eukaryotic cell divides the chromatin super condenses to form a number of threads like
structures called chromosomes, which are easily seen, because they stain intensely with stains.
The number of chromosomes is characteristic of the species. For example, in human cells there are
46 chromosomes, and in fruit fly cells there are only eight.
Dr Dawood 1
It is made of two identical structures called chromatids, joined at the centromere.
The centromere can be found anywhere

along the length of the chromosome, but
the position is characteristic for a
particular chromosome.
Each chromatid contains one DNA

molecule made up of a series of genes.
Each gene codes for one polypeptide chain
At both ends of a chromatid are regions of

special DNA called telomeres that act as a
cap on the ends of the chromosomes to
prevent loss of DNA.
Homologous Chromosomes
Are pairs of similar chromosomes which are genetically similar as each pair has the same length, with
the same centromere position and same banding patterns & same number of genes at the same loci
controlling the same features.
They are different because each one comes from a different parent and may have different alleles.
The first 22 matching pairs of chromosomes are called Autosomes and they are homologous.
The last pair of chromosomes are called Sex chromosomes which can be homologous in case of a girl
( X X ) or it can be non homologous in case of a boy ( X Y ).
Dr Dawood 2
Each chromosome has a characteristic set of genes at specific loci, which code for different features.
Typically each chromosome has several hundred to several thousand genes, where the total number
of different genes in humans is about 20 000–25 000.
A gene for a given characteristic may exist in different forms “alleles”.

The gene for eye colour has many alleles like for example one allele codes for blue eyes and one for
brown eyes.
An individual could possess both alleles, one on the maternal chromosome and the other on the
paternal chromosome.
A gene is a length of DNA on the coding strand, that codes for a particular polypeptide.
An allele is a particular version of a gene.
A locus is the position at which a particular gene is found on a particular chromosome.
Diploid cell is a cell containing 2 sets ( 2n) of chromosomes, one from each parent.
Haploid cell is a cell containing 1 set ( 1n ) of chromosomes like gamete cells.
Meiotic Cell Cycle

The sequence of events that occur to the cell, from time of its formation till its division into four
haploid cells, that are genetically different from each other and from the parent cell.
1. Interphase which is a stage of synthesis & growth.

2. Meiosis I which is a reduction division, resulting in two daughter nuclei with half the number of
chromosomes of the parent nucleus followed by cytokinesis.
3. Meiosis II in which the chromosomes behave as mitosis, splitting the chromatids apart followed
by cytokinesis.
Dr Dawood 3
Interphase
1) G1 ( Gap 1 ): synthesis of ribosomes, RNA, Proteins & growth in cytoplasm.
2) S Phase: Replication of DNA & Duplication of centrosomes.
3) G2 ( Gap 2 ): synthesis of tubulin proteins, DNA error checking & growth.
Meiosis I
Ø Prophase I
Ø Nucleolus disappears and become part of chromosomes.
Ø Nuclear envelope breaks up to form vesicles.
Ø Centrosomes start migrating to opposite poles.
Ø Spindle fibers start forming.
Ø Chromosomes condense and become visible, each consisting of 2 sister chromatids held
together by a centromere.
• Each pair of homologous chromosomes pair up to form bivalents in a process called synapsis.
• Non sister chromatids of homologous chromosomes join at several point called chiasma, at
which part of the chromatids break and rejoin to the opposite homologous chromosome
leading to a transfer of genetic material forming new allele combinations “crossing over”.
Ø Metaphase I
Ø Bivalents line up across the equator of the spindle, attached by their centromeres.
Ø Bivalents are independently assorted across the equator.
Ø Anaphase I
Ø Spindle fiber shortens, pulling homologous chromosomes apart, towards opposite poles by
their centromeres which don’t divide.
Ø Telophase I
Ø Nucleolus & nuclear envelope reappear.
Ø Spindle fibers breakdown & chromosomes uncoil.
Cytokinesis
• In animal cells a microfilament ring constricts forming a cleavage furrow that divides the
cytoplasm into two.
• In plant cells, Golgi sends vesicles containing cellulose to the equator of the cell to form the
cell plate in between the two cells which develops into a new cell wall dividing the cells.
Meiosis II
Ø Prophase II
Ø Like prophase I but without synapsis & crossing over.
Ø Metaphase II
Ø Individual chromosomes line up across the equator of the spindle.
Ø Chromatids are independently assorted across the equator.
Ø Anaphase II
Ø Spindle fibers shortens pulling chromatids apart to opposite poles by breaking their
centromeres.
Ø Telophase II
Ø Like telophase I
Cytokinesis II : Producing 4 genetically different haploid cells.
Dr Dawood 4
Chapter 16: Inherited change
Meiosis I 3 Late prophase I

1 Early prophase I
– as mitosis early prophase nuclear envelope
2 Middle prophase I breaks up as in mitosis
Homologous chromosomes pair crossing over of
up. This process is called synapsis. chromatids may occur
Each pair is called a bivalent. nucleolus ‘disappears’
centrosomes moving to as in mitosis
opposite ends of nucleus,
as in mitosis Bivalent showing crossing over:
centromere
chromatids may
4 Metaphase I (showing crossing break and may chiasma = point where crossing
reconnect to over occurs (plural; chiasmata)
over of long chromatids)
another one or more chiasmata may
bivalents line up chromatid form, anywhere along length
across equator of
spindle, attached At the end of prophase I a spindle is formed.
by centromeres
5 Anaphase I
Centromeres do not
divide, unlike in mitosis.
spindle formed,
as in mitosis Whole chromosomes move
towards opposite ends of
spindle, centromeres first,
6 Telophase I pulled by microtubules.
nuclear envelope
re-forming
nucleolus
Meiosis II
re-forming 7 Prophase II 8 Metaphase II
as mitosis
nuclear
cytokinesis envelope
and nucleolus
remains of spindle disperse
chromosomes
chromosomes have line up
reached poles of spindle centrosomes separately
Animal cells usually divide before entering meiosis II. and centrioles across
Many plant cells go straight into meiosis II with no replicate equator
reformation of nuclear envelopes or nucleoli. During and move of
meiosis II, chromatids separate as in mitosis. to opposite spindle
poles of the cell
9 Anaphase II
10 Telophase II
centromeres divide and

spindle microtubules
pull the chromatids to
opposite poles
This is like telophase of mitosis, but in meiosis

telophase II four haploid daughter cells are formed
Figure 16.8 Meiosis and cytokinesis in an animal cell. Compare this process with nuclear division by mitosis, shown in
Figure 5.7 (page 98).
Dr Dawood 5
Biological Significance of Meiosis
1. Halves the number of chromosomes forming haploid cells, which are the gametes for sexual
reproduction, so when fertilization takes place, the diploid number will be restored.
2. Meiosis results in genetic variation due to
Ø The crossing over of genetic material between non sister chromatids during prophase 1 leads to
the formation of new allele combinations.
Ø Independent assortment of bivalents during metaphase 1 and of chromosomes during
metaphase 2, results in different combination of maternal & paternal chromosomes in gametes.
Dr Dawood 6
Inheritance
In diploid organisms, ( as humans ) each cell contains 2 alleles of each gene carried on the same loci
on homologous chromosomes, where each allele is inherited from one parent.
Genotype is the alleles possessed by the organism.

Phenotype is the observable characteristics of the organism, resulting from the interaction between
the genotype & the environment.
Homozygous is having 2 identical alleles of a gene.
Heterozygous is having different alleles of a gene.
Dominant allele is the allele that is always expressed, in homozygous & heterozygous.
Recessive allele is the allele that is only expressed in a homozygous organism.
Codominance is the expression of both alleles in the phenotype of an organism.
Alleles are written in letters where a capital letter for the dominant allele and a small letter for the
recessive allele.
Note You are allowed to choose the letter if asked for, but you should use letters where the capital
looks very different from the small one, like A-a, B-b, D-d, E-e.
If you use symbols such as C-c, S-s or P-p, it can become difficult to tell them apart.
1) Dominant Recessive Inheritance

In tomato plant, the allele giving purple stem ( A ) is dominant over the allele giving green stem ( a ).
First Generation Second Generation

Parents Phenotype Purple stem X Green stem Purple stem X Purple stem
Parents Genotype AA X aa Aa X Aa
Gametes A A X a a A a X A a
Offspring Genotype Aa , Aa , Aa , Aa AA , Aa , Aa , aa
Offspring Phenotype Purple stem Purple stem and green stem
Ratio 1 3:1
F1 generation is the offspring resulting from a cross between an organism with a homozygous
dominant genotype, and one with a homozygous recessive genotype.
F2 generation is the offspring resulting from a cross between two F1 (heterozygous) organisms.
In pea plant, the allele giving smooth seed ( B ) is dominant over the allele giving wrinkled seed ( b ).

Parents Phenotype Smooth X Smooth Smooth X Smooth
Parents Genotype BB X Bb Bb X Bb
Gametes B B X B b B b X B b
Offspring Genotype BB , Bb , BB , Bb BB , Bb , Bb , bb
Offspring Phenotype Smooth Smooth and Wrinkled
Ratio 1 3:1
Dr Dawood 7
The genotype of a homozygous recessive organism can be determined just by its phenotype.
But it’s impossible to tell the genotype of an organism showing the dominant characteristic just by
looking at it, eg. a purple- stemmed tomato plant might have the genotype AA, or it might have the
genotype Aa. To find out its genotype, it could be crossed with a green-stemmed tomato plant.
If Homozygous If Heterozygous
Parents Phenotype Purple X Green Purple X Green
Parents Genotype AA X aa Aa X aa
Gametes A A X a a A a X a a
Offspring Genotype Aa , Aa , Aa , Aa Aa , Aa , aa , aa
Offspring Phenotype Purple Purple and Green
Ratio 1 1:1
So, from the colours of the offspring, you can tell the genotype of the purple parent.
If any green offspring are produced, then the purple parent must have the genotype Aa.
Test cross is a genetic cross in which an organism 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.
2) Codominance
A flower colour is controlled by two codominant alleles.

CR → Red flower & CW → White flower.

Parents Phenotype Red flower X White flower Pink flower X Pink flower
Parents Genotype CR CR X CW CW CRCW X CRCW
Gametes CR CR X CW CW CR CW X CR CW
Offspring Genotype All CRCW C C , CR CW , CR CW , CW CW
R R
Offspring Phenotype Pink (intermediate between both) Red, Pink, White

Ratio 1 1:2:1
Note in case of codominance we don’t have a dominant and a recessive allele thus we denote them
using a capital letter for the locus of the gene like C for colour gene and use superscripts to denote
the alleles CR & CW.
Dr Dawood 8
3) Multiple Alleles
When a gene has more than two alleles.

like for example the four blood groups A, B, AB and O are all determined by a single gene.
Three alleles of this gene exist IA, IB, Io.
IA & IB are codominant, whereas Io is recessive to both IA & IB.
As a diploid cell can carry only two alleles, so the possible genotypes and phenotypes are
Genotype Blood group
IA IA A
IA IB AB
IA Io A
IBIB B
IBIo B
Io Io O
First Generation
Parents Phenotype Blood group A X Blood group B
Parents Genotype IAIo X IBIo
Gametes IA Io X IB Io
Offspring Genotype IA IB , IA Io , IB Io , Io Io
Offspring Phenotype Group AB, Group A, Group B, Group O
Ratio 1:1:1:1
4) Sex Linked Inheritance
Humans have 22 pairs of autosomes and a pair of sex chromosomes that determines the gender.
The X chromosome is longer than the Y chromosomes and carry genes that are absent from ( Y )
Females have ( XX ) while males have ( XY ), thus males have one copy of the genes present on ( X ).
The X chromosome a gene that codes for the production

of a protein needed for blood clotting, called factor VIII.
There are two alleles of this gene, the dominant one, H,

producing normal factor VIII, and the recessive one, h,
resulting in a lack of factor VIII.
The recessive allele causes the disease haemophilia, in

which the blood fails to clot properly.
Females have 3 possible genotypes.

XHXH , XHXh , XhXh
Males have 2 possible genotypes

XH Y , X h Y
Dr Dawood 9
Red Green Colour ( RGC ) Blindness is a sex linked inherited disease caused by a recessive allele ( r )
on the X chromosome, while the dominant allele ( R ) gives normal vision.
First Generation
Parents Phenotype Carrier Mother X Normal Father
Parents Genotype XRXr x XR Y
Gametes XR Xr x XR Y
Offspring Genotype X X , XR Y , XRXr , XrY
R R
Offspring Phenotype Normal female, Normal male, Carrier female, RGC male
Ratio 1:1:1:1
5) Dihybrid Inheritance
The inheritance of just one gene is called monohybrid crosses.

In Dihybrid crosses we look at the inheritance of two genes ( on different chromosomes ) at once.
In pea plants, ( A ) allele = Yellow seed, ( a ) allele = Green seed.

( D ) allele = Smooth seed, ( d ) allele = Wrinkled seed.
First generation
Parents Phenotype Yellow Smooth seed X Green Wrinkled seed
Parents Genotype AADD X aadd
Gametes AD X ad
Offspring Genotype All AaDd
Offspring Phenotype Yellow Smooth seeds
Ratio 1
Second generation resulting from crossing 2 heterozygous parents ( F1 generation )

Parents Phenotype Yellow Smooth seed X Yellow Smooth seed
Parents Genotype AaDd X AaDd
Gametes AD Ad aD ad X AD Ad aD ad
Gametes from one parent

AD Ad aD ad
AD AADD AADd AaDD AaDd
Yellow Smooth Yellow Smooth Yellow Smooth Yellow Smooth
Gametes Ad AADd AAdd AaDd Aadd
from the Yellow Smooth Yellow Wrinkled Yellow Smooth Yellow Wrinkled
other aD AaDD AaDd aaDD aaDd
parent Yellow Smooth Yellow Smooth Green Smooth Green Smooth
ad AaDd Aadd aaDd aadd
Yellow Smooth Yellow Wrinkled Green Smooth Green Wrinkled
Ratio of 9 ( Yellow Smooth ) : 3 ( Yellow Wrinkled ) : 3 ( Green Smooth ) : 1 ( Green Wrinkled )
This 9:3:3:1 ratio is typical of a dihybrid cross between two heterozygous organisms (F2 Generation).
Dr Dawood 10
6) Gene Interactions”Epistasis”
When different genes at different loci interact to affect the same phenotypic character.
Example 1 The phenotype of feather colour in chicken is the result of interactions between 2 genes
at different loci, Ι / i and C / c
If the dominant allele ( Ι ) is present then the colour is white.
If homozygous recessive chicken ( ii ) had a dominant ( C ) then the chicken will be coloured.
The recessive ( c ) doesn’t affect the white colour of homozygous ( ii ).
First Generation
Parents Phenotype White X White
Parents Genotype ΙΙCC X iicc
Gametes ΙC X ic
Offspring Genotype All ΙiCc
Offspring Phenotype White
Ratio 1
Second Generation
Gametes from one parent
ΙC Ιc iC ic
ΙC ΙΙCC ΙΙCc ΙiCC ΙiCc
White White White White
Gametes Ιc ΙΙCc ΙΙcc ΙiCc Ιicc
from the White White White White
other iC ΙiCC ΙiCc iiCC iiCc
parent White White Coloured Coloured
ic ΙiCc Ιicc iiCc iicc
White White Coloured White
The usual 9 : 3 : 3 : 1 ratio expected in F2 generation has been modified to 13 White : 3 Coloured.
Example 2 the flower colour of a certain plant is controlled by a gene with two alleles, ( B ) for purple
colour and ( b ) for pink colour.
Another gene A/a on a different chromosome is involved.
Neither the dominant allele ( B ) nor the recessive allele ( b ) can be expressed in absence of a
dominant allele ( A ).
Genotype Phenotype
A-B- Purple
A-bb Pink
aaB- White
aabb White
Note the – sign indicates that either allele of the gene may be present.
Dr Dawood 11
7) Autosomal Linked Inheritance
When two or more gene loci are on the same chromosome, they do not assort independently in
meiosis, so tend to be inherited together.
The fruit fly, Drosophila, normally has a striped body and antennae with a feathery arista.
The gene for body colour and the gene for antennal shape are close together on the same
chromosome and so are linked.
Body colour gene:

E = allele for striped body
e = allele for ebony body
Antennal shape gene:
A = allele for normal antennae
a = allele for aristopedia antennae
Parents Phenotype Striped body + Normal antenna X Ebony body + Aristopedia antenna
Parents Genotype ( EA ) ( EA ) X ( ea ) ( ea )
Gametes EA X ea
Offspring Genotype All ( EA )( ea )
Offspring Phenotype Striped body + Normal antenna
Ratio 1
Male offspring were then test crossed with females homozygous for ebony body and aristopedia
antennae, producing the two original parent types in equal numbers.
Parents Phenotype Striped body + Normal antenna X Ebony body + Aristopedia antenna
Parents Genotype ( EA ) ( ea ) X ( ea ) ( ea )
Gametes EA ea X ea
Offspring Genotype ( EA )( ea ), ( ea )( ea )
Offspring Phenotype Striped body + Normal antenna, Ebony body + aristopedia antenna
Ratio 1:1
Note The test cross gives a 1 : 1 ratio of the two original parental types and not the 1 : 1 : 1 : 1 ratio
expected from a dihybrid cross. (If you are uncertain about these ratios, repeat the cross above but
assume that the genes are not linked.)
Dr Dawood 12
Crossing Over
During prophase I of meiosis, the chromatids of a bivalent may break and reconnect to another non-
Chapter 16: Inherited change
sister chromatid resulting in the exchange of gene loci between maternal and paternal chromatids,
breaking the autosomal linkage to form new combinations of alleles, forming recombinant classes in
the offspring.
Phenotype female, striped body, normal antennae male, ebony body, aristopedia antennae
Genotype (EA)(ea) (ea)(ea)
homologous E E e e e e e e
chromosomes
A A a a a a a a
in some cells one chiasma

in most cells between two loci
E E e e E E e e e e e e
A A a a A A a a a a a a
most gametes some gametes all gametes

(EA) or (ea) (Ea) or (eA) (ea)
E e E e e e
385
A a a A a a
Striped body + Normal antenna 44 % Parental Classes

Parental phenotypes female male Offspring genotypes and phenotypes:
Ebony body + Aristopedia stripedantenna
body ebony 44%
body Gametes from male parent
Striped body + Aristopedia antenna aristopedia
normal antennae 6% ea
antennae Recombinant Classes
Ebony body + Normal antenna 6%
Parental genotypes (EA)(ea) (ea)(ea) (EA)(ea)
EA striped body,
Gametes large numbers of EA and ea ea large normal antennae
The cross over value ( COV ) is the percentage of offspring that belong to the
Gametes numbers
recombinant
(ea)(ea)
classes.
small numbers of Ea and eA
from ea ebony body,
female aristopedia antennae
In this case it is 6% + 6% = 12%. parent (Ea)(ea)
Ea
This is a measure of the distance apart of the two gene loci on their chromosomes. striped body,
small aristopedia antennae
The smaller the cross over value, the closer the loci are together.
numbers (eA)(ea)
The chance of a cross over taking place between two loci is directly related
eA to their distance
ebony body, apart.
normal antennae
Figure 16.21 Crossing over in female Drosophila.
Dr Dawood 13
( X2 ) Chi-Squared Test
It’s a statistical test that allows us to compare our observed results with the expected results, and
decide whether or not there is a significant difference between them.
In the dihybrid cross in page 14, when 2 heterozygous plants ( Yellow Smooth ) were crossed they
produced 144 offspring with phenotypes of

86 26 24 8
But we expected that the offspring ratio to be 9 : 3 : 3 : 1 giving

81 27 27 9
To find out if the difference between the observed & expected results have arisen by chance ( not
significant ) or they are due to something unexpected ( significant ) we work out the X2 test.
Phenotypes Yellow Smooth Yellow Wrinkled Green Smooth Green Wrinkled

Observed # ( O ) 86 26 24 8
Expected ratio 9 3 3 1
Expected # ( E ) 81 27 27 9
O–E +5 -1 -3 -1
( O – E )2 25 1 9 1
( O – E )2/E 0.31 0.04 0.33 0.11
( 𝐎 – 𝐄 )𝟐 = 0.79
X2 = ∑
𝑬
So now we have our value of χ2. Next we have to work out what it means. To do this, we look at a
table that relates χ2 values to probabilities. The probabilities given in the table are the probabilities
that the differences between our expected and observed results are due to chance ( not significant ).
Ø In biological experiments we compare the X2 value with the critical value of 0.05 probability.
Ø The degrees of freedom is the number of classes minus 1 so in this example = 4 classes – 1 = 3
Probability
Degrees of freedom
0.1 0.05 0.01 0.001
1 2.71 3.84 6.64 10.83
2 4.60 5.99 9.21 13.82
3 6.25 7.82 11.34 16.27
4 7.78 9.49 13.28 18.46
If the X2 value is equal, or smaller than the critical value, then the differences are not significant.
If the X2 value is larger than the critical value, then the differences are significant.
In our example the X2 value is 0.79 which is smaller than the critical value 7.82 so the difference is
not significant.
Dr Dawood 14
Mutations
It’s a spontaneous & random change in the DNA base sequence, occurring during DNA replication
resulting in the formation of new alleles.
Mutations may occur randomly, with no obvious cause, However there are several environmental
factors that significantly increase the chances of a mutation occurring and they are called Mutagens
1. Ionizing radiations as alpha, beta & gamma rays.

2. Ultraviolet radiations.
3. Mustard gas.
4. Viral infections.
Types of Mutations
A. Chromosome Mutations
Changes in the structure or number of whole chromosomes.
B. Gene Mutations
Changes in 1 or more bases in the DNA molecule, producing different alleles of a gene.
Its most likely to occur when DNA replicates during interphase.
Ø Base Substitution: where one base simply takes the place of another.
Ø Base Addition: where one or more extra bases are added to the sequence.
Ø Base Deletion: where one or more bases are lost from the sequence.
Effects of Base Substitution
• Usually have no effect on the organism “Silent Mutation” because many amino acids have more
than one triplet code (Degenerate Code), so even if one base is changed, the same amino acid is
still coded for.
• But can have very large effects if it resulted in a stop triplet leading to premature termination of
the protein chain synthesis, forming a short protein.
The base sequence ATG codes for tyrosine amino acid could be mutated to ATT which is a stop code.
Effects of Base Addition & Deletion
Usually have large effects on the organism as they cause frame shift in the code, because they alter
every set of three bases that follows the mutation in the DNA molecule, or they may introduce a
stop triplet leading to premature termination of protein synthesis.
Note that base addition or deletion of 3 or 6 or 9 bases will not cause a frame shift, only bases that
are not divisible by 3 will cause frame shift.
Dr Dawood 15
1. Sickle Cell Anemia ( SCA )
A base substitution ( CAT instead of CTT ) in the gene coding for the 𝛽 chain of hemoglobin resulted
in the formation of the HbS allele which codes for the hydrophobic valine amino acid instead of the
hydrophilic glutamate in the normal HbA allele.
Valine makes hemoglobin

• less soluble and tend to stick together forming fibers inside the RBC, pulling the RBC out of shape
forming a “sickle” shape, which gets trapped in small capillaries.
• Less capable of carrying O2 leading to severe “anemia” that could cause death.
Note HbA & HbS are codominant, thus both are expressed in the phenotype.
Genotype Phenotype
HbAHbA Normal
HbAHbS Normal, but with sickle cell trait
HbSHbS Sickle cell anaemia
2. Albinism
Results from the base substitution in the gene coding for tyrosinase enzyme which is needed for
melanin synthesis in melanocytes, responsible for the dark pigment of skin & hair.
Tyrosine → DOPA →Dopaquinone →Melanin
Tyrosinase
In albinism, the dark pigment melanin is totally or partially missing from the eyes, skin and hair, due
to absent or inactive tyrosinase.
In humans this results in pale blue or pink irises in the eyes and very pale skin and hair, accompanied
with the tendency of avoiding bright colours.
It’s an autosomal recessive inherited disease, affecting only homozygous recessive individuals.
Dr Dawood 16
3. Huntington’s Disease ( HD )
HD is a neurological disorder resulting in involuntary movements (chorea) and progressive mental

deterioration as brain cells are lost and the ventricles of the brain become larger.
Its an autosomal dominant inherited disease, this means that most people with the condition are
heterozygous and have a 1 in 2 chance of passing on the condition to a child.
The age of onset is variable, but occurs most commonly in middle age, so that individuals may have
children before they know that they themselves have the condition.
The mutation is an unstable segment in a gene on chromosome 4 coding for a protein, huntingtin.
In normal people, the segment is made up of a small number of repeats of the triplet bases CAG,
while HD patients have a larger number of repeats of the CAG triplet “stutter”.
There is an inverse correlation between the number stutter repeats and the age of onset of the
condition, the more stutters, the earlier the condition appears.
Gene Control
In both prokaryotes and eukaryotes, transcription of a gene is controlled by transcription factors.
These are proteins that bind to a specific DNA sequence and control the flow of information from
DNA to RNA by controlling the formation of mRNA.
They regulate gene expression by turning on or off genes to make sure they are expressed in the
right cell at the right time and in the right amount.
Transcription factors can be affected by hormones and environmental stimuli such as the presence
of a certain substance.
Structural Genes are genes that code for structural proteins such as collagen or proteins that have
metabolic roles such as enzymes.
Regulatory Genes are genes the code for transcription factor proteins that regulate the expression of
other genes.
Inducible enzymes they are not usually present as there genes are switched off but they are
produced only under certain conditions such as the presence of a particular substrate, which will
switch on there genes.
Repressible enzymes are produced continuously, but their synthesis can be stopped if a certain
signal is present such as accumulation of the end product.
Constitutive enzymes are produced continuously, and their synthesis is not affected by any signals.
Dr Dawood 17
Gene Control in Prokaryotes : The Lac Operon

An operon is a length of DNA making up a unit of gene expression in a bacterium.
It consists of one or more structural genes and the control regions of DNA (Promotor & Operator)
that are recognized by the products of regulatory genes.
The lac operon is the mechanism by which bacteria will produce enzymes needed for lactose
metabolism only when lactose is present.
It consists of
1. Three structural genes are:
• lacZ, coding for β-galactosidase
• lacY, coding for permease (which allows lactose to enter the cell)
• lacA, coding for transacetylase.
2. Promoter region, which is the site of attachment for RNA polymerase for transcription to begin
3. Operator region.
Close to the promotor, but not actually part of the operon, is its regulatory gene which codes for a
repressor protein.
Ø In absence of lactose
The regulatory gene codes for a repressor protein, that binds to the operator region, preventing the
binding of RNA polymerase at the promoter region so no transcription of the three structural genes
can take place.
Ø In presence of lactose
lactose is taken up by the bacterium, which will then bind to the repressor protein, distorting its
shape and preventing it from binding to DNA at the operator site.
Transcription is no longer inhibited so RNA polymerase binds to the promotor region producing
messenger RNA from the three structural genes.
The genes have been switched on and are transcribed together.
Dr Dawood 18
Gene Control in Eukaryotes : Gibberellin & Seed Germination
The plant hormone, gibberellin, controls seed germination in plants such as wheat and barley by
stimulating the synthesis of amylase.
A DELLA protein inhibits the binding of a transcription factor, phytochrome- interacting protein (PIF),
to a gene promoter, thus preventing transcription.
Gibberellin binds to its receptor that will activate an enzyme that breaks down the DELLA protein,
allowing PIF to bind to the promoter so transcription takes place forming mRNA coding for amylase.
Note It is a good example of how a hormone can influence transcription.
Dr Dawood 19
Cambridge International AS & A Level Biology 9700 syllabus for 2022, 2023 and 2024. Subject content
16 Inheritance
Genetic information is transmitted from generation to generation to maintain the continuity of life. In sexual
reproduction, meiosis introduces genetic variation so that offspring resemble their parents but are not identical
to them. Genetic crosses reveal how some features are inherited. The phenotype of organisms is determined
partly by the genes that they have inherited and partly by the effect of the environment. Genes determine how
organisms develop; gene control in bacteria gives us a glimpse of this process in action.
16.1 Passage of information from Learning outcomes
parents to offspring Candidates should be able to:
1 explain the meanings of the terms haploid (n) and diploid (2n)
2 explain what is meant by homologous pairs of chromosomes
3 explain the need for a reduction division during meiosis in the
production of gametes
4 describe the behaviour of chromosomes in plant and animal
cells during meiosis and the associated behaviour of the nuclear
envelope, the cell surface membrane and the spindle (names
of the main stages of meiosis, but not the sub-divisions of
prophase I, are expected: prophase I, metaphase I,
anaphase I, telophase I, prophase II, metaphase II, anaphase II
and telophase II)
5 interpret photomicrographs and diagrams of cells in different
stages of meiosis and identify the main stages of meiosis
6 explain that crossing over and random orientation (independent
assortment) of pairs of homologous chromosomes and sister
chromatids during meiosis produces genetically different
gametes
7 explain that the random fusion of gametes at fertilisation
produces genetically different individuals
16.2 The roles of genes in Learning outcomes
determining the phenotype Candidates should be able to:
1 explain the terms gene, locus, allele, dominant, recessive,
codominant, linkage, test cross, F1, F2, phenotype, genotype,
homozygous and heterozygous
2 interpret and construct genetic diagrams, including Punnett
squares, to explain and predict the results of monohybrid
crosses and dihybrid crosses that involve dominance,
codominance, multiple alleles and sex linkage
squares, to explain and predict the results of dihybrid crosses
that involve autosomal linkage and epistasis (knowledge of the
expected ratios for different types of epistasis is not expected)
squares, to explain and predict the results of test crosses
5 use the chi-squared test to test the significance of differences
between observed and expected results (the formula for the
chi-squared test will be provided, as shown in the Mathematical
requirements)
continued
36 www.cambridgeinternational.org/alevel Back to contents page
Dr Dawood 20
Cambridge International AS & A Level Biology 9700 syllabus for 2022, 2023 and 2024. Subject content
16.2 The roles of genes in Learning outcomes

determining the phenotype Candidates should be able to:
continued
6 explain the relationship between genes, proteins and phenotype
with respect to the:
• TYR gene, tyrosinase and albinism
• HBB gene, haemoglobin and sickle cell anaemia
• F8 gene, factor VIII and haemophilia
• HTT gene, huntingtin and Huntington’s disease
7 explain the role of gibberellin in stem elongation including
the role of the dominant allele, Le, that codes for a functional
enzyme in the gibberellin synthesis pathway, and the recessive
allele, le, that codes for a non-functional enzyme
16.3 Gene control Learning outcomes
Candidates should be able to:
1 describe the differences between structural genes and
regulatory genes and the differences between repressible
enzymes and inducible enzymes
2 explain genetic control of protein production in a prokaryote
using the lac operon (knowledge of the role of cAMP is not
expected)
3 state that transcription factors are proteins that bind to DNA
and are involved in the control of gene expression in eukaryotes
by decreasing or increasing the rate of transcription
4 explain how gibberellin activates genes by causing the
breakdown of DELLA protein repressors, which normally inhibit
factors that promote transcription
Back to contents page www.cambridgeinternational.org/alevel 37
Dr Dawood 21

CH 5 - Inheritance

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CH 5 - Inheritance

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A2 Biology 5) Inherited Change June 2024

The combination of DNA and proteins is called chromatin.

It is made of two identical structures called chromatids, joined at the centromere.

The centromere can be found anywhere

Each chromatid contains one DNA

Each gene codes for one polypeptide chain

At both ends of a chromatid are regions of

A gene for a given characteristic may exist in different forms “alleles”.

Meiotic Cell Cycle

1. Interphase which is a stage of synthesis & growth.

Cytokinesis II : Producing 4 genetically different haploid cells.

Meiosis I 3 Late prophase I

centromeres divide and

This is like telophase of mitosis, but in meiosis

Biological Significance of Meiosis

2. Meiosis results in genetic variation due to

Genotype is the alleles possessed by the organism.

1) Dominant Recessive Inheritance

First Generation Second Generation

First Generation Second Generation

A flower colour is controlled by two codominant alleles.

First Generation Second Generation

Offspring Phenotype Pink (intermediate between both) Red, Pink, White

When a gene has more than two alleles.

4) Sex Linked Inheritance

The X chromosome a gene that codes for the production

There are two alleles of this gene, the dominant one, H,

The recessive allele causes the disease haemophilia, in

Females have 3 possible genotypes.

Males have 2 possible genotypes

The inheritance of just one gene is called monohybrid crosses.

In pea plants, ( A ) allele = Yellow seed, ( a ) allele = Green seed.

Second generation resulting from crossing 2 heterozygous parents ( F1 generation )

Gametes from one parent

Ratio of 9 ( Yellow Smooth ) : 3 ( Yellow Wrinkled ) : 3 ( Green Smooth ) : 1 ( Green Wrinkled )

7) Autosomal Linked Inheritance

Body colour gene:

in some cells one chiasma

most gametes some gametes all gametes

Striped body + Normal antenna 44 % Parental Classes

Yellow Smooth Yellow Wrinkled Green Smooth Green Wrinkled

Yellow Smooth Yellow Wrinkled Green Smooth Green Wrinkled

Phenotypes Yellow Smooth Yellow Wrinkled Green Smooth Green Wrinkled

1. Ionizing radiations as alpha, beta & gamma rays.

Effects of Base Substitution

Effects of Base Addition & Deletion

1. Sickle Cell Anemia ( SCA )

Valine makes hemoglobin

Tyrosine → DOPA →Dopaquinone →Melanin

HD is a neurological disorder resulting in involuntary movements (chorea) and progressive mental

Gene Control in Prokaryotes : The Lac Operon

Gene Control in Eukaryotes : Gibberellin & Seed Germination

Note It is a good example of how a hormone can influence transcription.

A2 Biology 5) Inherited Change June 2024

36 www.cambridgeinternational.org/alevel Back to contents page

A2 Biology 5) Inherited Change June 2024

16.2 The roles of genes in Learning outcomes

Back to contents page www.cambridgeinternational.org/alevel 37

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