Cambridge (CIE) IGCSE Your notes

Biology
Inheritance, Genes & Cell Division
Contents
Chromosomes, Genes & Proteins
The Inheritance of Sex
Genes & Proteins
Protein Synthesis
Which Proteins are Synthesised?
Mitosis
Meiosis
Monohybrid Inheritance
Codominance & Sex-Linked Characteristics

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 Chromosomes, Genes & Proteins
Your notes
The Structure of Genes
Inheritance of Chromosomes, Genes and DNA
Inheritance is the transmission of genetic information from generation to generation
Chromosomes are located in the nucleus of cells
They are thread-like structures of DNA, carrying genetic information in the form of
genes
A gene is a short length of DNA found on a chromosome that codes for a specific
protein
This could be a structural protein such as collagen found in skin cells, an enzyme or a
hormone
Genes control our characteristics as they code for proteins that play important roles in
what our cells do
Think about zooming into the nucleus of a cell, as shown in the diagram below
On the right is the zoomed-out view
Which zooms in as we read across the diagram right-to-left

Genes are short lengths of DNA that code for a protein. They are found on chromosomes
Alleles are different versions of a particular gene. The ABO gene for blood group type
has three alleles, IA, IB and IO
Alleles give all organisms their characteristics

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Examiner Tips and Tricks
Your notes
The Zoom model is always useful when trying to viualise where you are in a cell, and
what molecules are doing what. Imagine a zoom lens that has the power to zoom right
out to look at a whole organism, but also to zoom right into individual molecules. This
helps in recognising the structures in cell nuclei visible as chromosomes, then
zooming in to picture the individual genes and then, the bases that make up the DNA

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The Inheritance of Sex
Your notes
XX & XY Chromosomes
Sex is determined by an entire chromosome pair (as opposed to most other
characteristics that are just determined by one or a number of genes)
Females have the sex chromosomes XX
Males have the sex chromosomes XY
As only a father can pass on a Y chromosome, he is responsible for determining the sex
of the child
He does this because
He produces (ejaculates) around 250 million sperm cells during sexual intercourse
Of those, half (125 million sperm) will be carrying his X chromosome
If one of these sperm fertilises the egg, the fetus will be female
The other 125 million of his sperm will be carrying his Y chromosome
Which will result in a male fetus if one of these fertilises the egg

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 Your notes

Sperm cells determine the sex of offspring

The inheritance of sex can be shown using a genetic diagram (known as a Punnett
square), with the X and Y chromosomes taking the place of the alleles usually written in
the boxes

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 Your notes

Punnett square showing the inheritance of sex

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 Genes & Proteins
Your notes
DNA Base Sequence To Amino Acid Sequence:
Extended
The DNA Base Sequence Determines the Amino Acid
Sequence in Protein
The DNA code (a series of bases) is converted into proteins (a series of amino acids)
The process of protein synthesis has two stages
Transcription (rewriting the base code of DNA into bases of RNA)
Translation (using RNA base sequence to build amino acids into sequence in a
protein)
Therefore, the sequence of bases in a gene determines the sequence of amino acids
that make a specific protein
Different sequences of amino acids give different shapes and functions to protein
molecules

Examiner Tips and Tricks

Students often confuse sequences of bases (in DNA/RNA) with sequences of amino
acids (in proteins).
Make sure you're clear which large molecule you're referring to and therefore, which
monomers make up the larger molecule.

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 Protein Synthesis
Your notes
Transcription & Translation: Extended

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 Your notes

Protein synthesis

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 Proteins are made by ribosomes with the sequence of amino acids controlled by the
sequence of bases contained within DNA
Your notes
DNA cannot travel out of the nucleus to the ribosomes (it is far too big to pass through a
nuclear pore) so the base code of each gene is transcribed onto an RNA molecule called
messenger RNA (mRNA).
mRNA then moves out of the nucleus and attaches to a ribosome
The ribosome ‘reads’ the code on the mRNA in groups of three
Each triplet of bases codes for a specific amino acid
In this way the ribosome translates the sequence of bases into a sequence of amino
acids that make up a protein
Once the amino acid chain has been assembled, it is released from the ribosome so it
can fold and form the final structure of the protein

The triplet code of DNA (carried by mRNA) is read by the ribosome and amino acids are
attached together in a specific sequence to form the protein

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 Which Proteins are Synthesised?
Your notes
Control of Gene Expression: Extended

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 Your notes

Protein synthesis

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 Expression of a gene means whether that gene is transcribed and translated in a
particular cell or not
Your notes
Most genes are not expressed in a particular cell
They are 'switched off'
Because that would be a waste of energy and other resources in the cell
Only the genes whose proteins are vital to that cell's function are expressed ('switched
on')

The triplet code of DNA (carried by mRNA) is read by the ribosome and amino acids are
attached together in a specific sequence to form the protein
In this way, DNA controls cell function by controlling the production of proteins
The proteins may be enzymes, antibodies, or receptors for neurotransmitters
Although all body cells in an organism contain the same genes, many genes in a
particular cell are not expressed because the cell only makes the specific proteins it
needs

Haploid and Diploid Cells

All humans have 23 different chromosomes in each cell
In most body cells, not including the gametes (sex cells), we have 2 copies of each
chromosome, leading to a total of 46 chromosomes

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Nuclei with two sets of chromosomes are known as diploid nuclei
The gametes (egg and sperm cells) only have one copy of each chromosome, meaning Your notes
they have a total of 23 chromosomes in each cell
Nuclei with one set of unpaired chromosomes are known as haploid nuclei

Examiner Tips and Tricks

An easy way to remember the difference between haploid and diploid is to
remember:
Haploid = Half the normal number of chromosomes
It’s worth noting that the human diploid chromosome number is 46. In an exam, you
may be given information about a different species, with a different number of
chromosomes. Make sure you read exam questions carefully.

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 Mitosis
Your notes
New Cells are Made by Mitosis: Extended
Extended Tier Only
Mitosis - Basics
Most body cells have two copies of each chromosome
We describe these cells as diploid
When cells divide their chromosomes double beforehand
This ensures that when the cell splits in two, each new cell still has two copies of each
chromosome (is still diploid)
This type of cell division is used for growth, repair of damaged tissues, replacement of
cells and asexual reproduction and is known as mitosis
Mitosis is defined as nuclear division giving rise to genetically identical cells

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 Your notes

The process of cell division by mitosis

Process:
Just before mitosis, each chromosome in the nucleus copies itself exactly (forms x -
shaped chromosomes)
Chromosomes line up along the centre of the cell where cell fibers pull them apart
The cell divides into two; each new cell has a copy of each of the chromosomes
Importance:

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 All cells in the body (excluding gametes) are produced by mitosis of the zygote
Mitosis is important for replacing cells e.g, skin cells, red blood cells and for allowing Your notes
growth (production of new cells e.g. when a zygote divides to form an embryo)
Occurs in:
Growth: mitosis produces new cells
Repair: to replace damaged or dead cells
Asexual reproduction: mitosis produces offspring that are genetically identical to the
parent

Mitosis & Stem Cells: Extended

Extended Tier Only
Many tissues in the human body contain a small number of unspecialised cells
These are called stem cells and their function is to divide by mitosis and produce new
daughter cells that can become specialised within the tissue and be used for different
functions
The ultimate stem cell is the zygote
A zygote divides several times by mitosis to become a ball of unspecialised cells
(around 200-300 cells)
These are embryonic stem cells
These cells are all the same and start differentiating as the fetus develops with
recognisable features

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 Meiosis
Your notes
Meiosis: Extended
Extended Tier Only
Meiosis is a type of nuclear division that gives rise to cells that are genetically different
It is used to produce the gametes (sex cells)
The number of chromosomes must be halved when the gametes (sex cells) are formed
Otherwise there would be double the number of chromosomes after they join at
fertilisation in the zygote (fertilized egg)
This halving occurs during meiosis, and so it is described as a reduction division in which
the chromosome number is halved from diploid to haploid, resulting in genetically
different cells
It starts with chromosomes doubling themselves as in mitosis and lining up in the centre
of the cell
After this has happened the cells divide twice so that only one copy of each
chromosome passes to each gamete
We describe gametes as being haploid - having half the normal number of
chromosomes
Because of this double division, meiosis produces four haploid cells

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 Your notes

The process of cell division by meiosis to produce haploid gamete cells

Process:
Each chromosome makes identical copies of itself (forming X-shaped chromosomes)

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 First division: chromosomes pair up along the centre of the cell, recombination occurs
and then cell fibres will pull the pairs apart, each new cell will have one of each
recombinant chromosome pair Your notes
Second division: chromosomes will line up along the centre of the cell, cell fibres will pull
them apart (as with mitosis)
A total of four haploid daughter cells will be produced
Importance:
Production of gametes e.g. sperm cells and egg cells, pollen grains and ovum
Increases genetic variation of offspring
Meiosis produces variation by forming new combinations of maternal and paternal
chromosomes every time a gamete is made, meaning that when gametes fuse randomly
at fertilisation, each offspring will be different from any others

Differences between Mitosis & Meiosis

Examiner Tips and Tricks

Questions on cell division often ask for differences between mitosis and meiosis.
Learn two or three and remember to BE SPECIFIC when giving your answer.
You should also know the reasons for a specific type of cell division taking place and
the types of cells where each happen.

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 Monohybrid Inheritance
Your notes
Inheritance: definitions
Inheritance is the transmission of genetic information from one generation to the next
generation
A gene is a short length of DNA found on a chromosome that codes for a particular
characteristic
Alleles are versions, or forms, of a gene
Chromosomes exist in matching pairs, so individuals have two copies of each gene
and therefore two alleles of each gene
One of the alleles is inherited from the mother and the other from the father
For example, an individual has two copies of the gene for eye colour; these alleles
could be identical, or they could be different
The observable characteristics of an organism is called the phenotype
The combination of alleles that control each characteristic is called the genotype
Alleles can be dominant or recessive
A dominant allele only needs to be inherited from one parent in order for the
characteristic to show up in the phenotype
A recessive allele needs to be inherited from both parents in order for the
characteristic to show up in the phenotype.
If there is only one recessive allele, it will remain hidden and the dominant
characteristic will show
If the two alleles of a gene are the same, we describe the individual as being
homozygous (homo = same); an individual could be:
homozygous dominant: having two copies of the dominant allele, or
homozygous recessive: having two copies of the recessive allele
If the two alleles of a gene are different we describe the individual as being
heterozygous (hetero = different)
When completing genetic diagrams alleles are notated as single letters
The dominant allele is given a capital letter and the recessive allele is given the lower
case version of the same letter

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 Your notes

Alleles of a gene can carry the same instructions or different instructions. You can only
inherit two alleles for each gene, and they can be the same or different
We cannot always determine the genotype of an individual just by looking at the
phenotype
A phenotype associated with a dominant allele will be seen in both a dominant
homozygous and a heterozygous genotype
If two individuals who are both identically homozygous for a particular characteristic are
bred together, they will produce offspring with exactly the same genotype and
phenotype as the parents
We describe them as pure breeding as they will always produce offspring with the
same characteristics
A heterozygous individual can pass on different alleles for the same characteristic each
time it breeds with any other individual and can therefore produce offspring with a
different genotype and phenotype than the parents
heterozygous individuals are not pure breeding

Genetic diagrams
What is monohybrid inheritance?
Monohybrid inheritance is the inheritance of characteristics controlled by a single gene
(mono = one)
This can be determined using a genetic diagram known as a Punnett square
A Punnett square diagram shows the possible combinations of alleles that could be
produced in the offspring
From this the ratio of these combinations can be worked out

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 Your notes
Worked Example
The height of pea plants is controlled by a single gene that has two alleles: tall and
short
The tall allele is dominant and is shown as T
The small allele is recessive and is shown as t
Show the possible allele combinations of the offspring produced when a
homozygous short plant is bred with a homozygous tall plant. Determine the
probability that any offspring will be tall
Step 1: construct a Punnett square
The parents are homozygous, so:
tall = TT
short = tt
The Punnet square should indicate:
parent gametes
offspring genotypes
an indication of which offspring are tall
Step 2: determine the probability of tall offspring
All offspring are Tt
The probability that they are tall = 100 %

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 Your notes

Show the possible allele combinations of the offspring produced when two of the
offspring from the first cross are bred together. Determine the probability that any
offspring will be short.
Step 1: construct a Punnett square
The offspring from the first cross are all Tt
The Punnet square should indicate:
parent gametes
offspring genotypes
an indication of which offspring are short
Step 2: determine the probability of short offspring
Offspring genotypes = TT, Tt, Tt, tt
Offspring phenotypes = 3 x tall, 1 x short
The probability that they are tall = 25 %

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 Your notes

Worked Example
The height of pea plants is controlled by a single gene that has two alleles: tall and
short
The tall allele is dominant and is shown as T
The small allele is recessive and is shown as t
Show the results of crossing a heterozygous plant with a short plant. Determine the
probability of the offspring being short.
Step 1: construct a Punnett square
The heterozygous parent has the genotype Tt
The short parent has the genotype tt
The Punnet square should indicate:
parent gametes
offspring genotypes

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 an indication of which offspring are short
Step 2: determine the probability of short offspring
Your notes
Offspring genotypes = Tt, Tt, tt, tt
Offspring phenotypes = 2 x tall, 2 x short
The probability that they are tall = 50 %

Constructing Punnett squares

You may be asked to determine the ratio of different allele combinations in the
offspring, calculate a percentage chances of offspring showing a specific characteristic
or just determine the phenotypes of the offspring; this can be done using a Punnett
square as follows:
1. Determine the letter that will be used to notate each allele
Some exam Qs will provide this information
If not then you should select a relevant letter, e.g. E and e for eye colour
2. Determine the parental genotypes
3. Determine the gametes produced by each parent and add them to the Punnett
square headings
4. Fill in the middle four squares of the Punnett square to work out the possible genetic
combinations in the offspring

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 5. Indicate clearly on your Punnett square which individual will show each phenotype,
e.g. with labels or colour coding
Your notes

Examiner Tips and Tricks

If you are asked to use your own letters to represent the alleles in a Punnett square, try
to choose a letter that is obviously different as a capital than the lower case so the
examiner is not left in any doubt as to which is dominant and which is recessive.
For example, C and c are not very different from each other when written by hand,
whereas A and a are!

Pedigree diagrams
Family pedigree diagrams are usually used to trace the pattern of inheritance of a
specific characteristic (usually a disease) through generations of a family
This can be used to work out the probability that someone in the family will inherit the
genetic disorder

A family pedigree chart

Males are indicated by the square shape and females are represented by circles
Affected individuals are red and unaffected are blue
Horizontal lines between males and females show that they have produced children
(which are shown underneath each couple)
The family pedigree above shows:

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 both males and females are affected
every generation has affected individuals Your notes
That there is one family group that has no affected parents or children
the other two families have one affected parent and affected children as well
Identifying an unknown genotype: extended
Breeders can use a test cross to find out the genotype of an organism showing the
dominant phenotype
This involves crossing the unknown individual with an individual showing the recessive
phenotype - if the individual is showing the recessive phenotype, then its genotype
must be homozygous recessive
By looking at the ratio of phenotypes in the offspring, we can tell whether the unknown
individual is homozygous dominant or heterozygous

Worked Example
The height of pea plants is controlled by a single gene that has two alleles: tall and
short
The tall allele is dominant and is shown as T
The small allele is recessive and is shown as t
A plant breeder has a tall plant of unknown genotype. Show how they can find out
whether it is homozygous dominant or heterozygous.
Step 1: construct Punnett squares
The short plant is showing the recessive phenotype and so must be homozygous
recessive tt
The tall parent could be either TT or Tt, so we will need to produce two Punnett
squares to show the different outcomes
The Punnet squares should indicate:
parent gametes
offspring genotypes
which offspring are tall or short
Step 2: determine how the outcomes of the two crosses would differ
Homozygous tall parent offspring = Tt = all tall
Heterozygous tall parent offspring genotypes = Tt or tt = 50 % tall and 50 % short
The presence of any short offspring indicate that the unknown parent has a
heterozygous genotype

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 Your notes

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 Codominance & Sex-Linked Characteristics
Your notes
Codominance: Extended
Extended Tier Only
Codominance
Codominance occurs when both alleles in heterozygous organisms contribute to the
phenotype
Inheritance of blood group is an example of codominance
There are three alleles of the gene governing this instead of the usual two
Alleles IA and IB are codominant, but both are dominant to IO
I represents the gene and the superscript A, B and O represent the alleles
IA results in the production of antigen A in the blood
IB results in the production of antigen B in the blood
IO results in no antigens being produced in the blood
These three possible alleles can give us the following genotypes and phenotypes:

We can use genetic diagrams to predict the outcome of crosses that involve
codominant alleles:
‘Show how a parent with blood group A and a parent with blood group B can produce
offspring with blood group O’

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 Your notes

Punnett square showing the inheritance of Blood Group

The parent with blood group A has the genotype IAIO
The parent with the blood group B has the genotype IBIO
We know these are their genotypes (as opposed to both being homozygous) as they are
able to produce a child with blood group O and so the child must have inherited an allele
for group O from each parent
Parents with these blood types have a 25% chance of producing a child with blood type
O

Sex-Linked Characteristics: Extended

Extended Tier Only
Alleles on the same chromosome are said to be linked
When alleles that control a particular characteristic are found on the sex chromosomes,
we describe the inheritance that results as ‘sex linked’
In almost all cases, there are only alleles on the X chromosome as the Y chromosome is
much smaller
Because males only have one X chromosome, they are much more likely to show sex-
linked recessive conditions (such as red-green colour blindness and haemophilia)
Females, having two copies of the X chromosome, are likely to inherit one dominant
allele that masks the effect of the recessive allele
A female with one recessive allele masked in this way is known as a carrier; she doesn’t
have the disease, but she has a 50% chance of passing it on to her offspring
If that offspring is a male, he will have the disease

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The results of a cross between a normal male and a female who is a carrier for
colourblindness is as follows:
Your notes

Punnett square showing the inheritance of colourblindness, an X-linked condition

In the cross above, there is a 25% chance of producing a male who is colourblind, a 25%
chance of producing a female carrier, a 25% chance of producing a normal female and a
25% chance of producing a normal male

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