17 Inheritance

Mamun S Rafet
Senior Chemistry and Biology Faculty
Oxford International School

Key objectives
The objectives for this chapter are to revise:
l definitions of the key terms l mitosis and meiosis, including the role of
l what chromosomes are and what they contain mitosis
l inheritance of sex in humans
l that the exact duplication of chromosomes
l that a heterozygous individual cannot be pure
occurs before mitosis and that, during
breeding mitosis, the copies of chromosomes
l how to interpret pedigree diagrams
separate
l how to use genetic diagrams and Punnett
l that meiosis produces variation
squares to show monohybrid crosses l that meiosis is involved in the production of
gametes
l how to use a test-cross to identify an
l the significance of the sequence of bases in unknown genotype
a gene l how to explain codominance, using the
l how DNA controls cell function and how inheritance of ABO blood groups
proteins are made l sex-linked inheritance, using colour
l that all body cells in an organism contain blindness as an example
the same genes, but many genes are not l how to use genetic diagrams to predict the
expressed results of monohybrid crosses involving
l the number of chromosomes in human codominance and sex-linkage, and how to
haploid and diploid cells calculate phenotypic ratios

Key terms
Term Definition
Allele An alternative form of a gene
Dominant An allele that is expressed if it is present in the genotype
Gene A length of DNA that codes for a protein
Genotype The genetic make-up of an organism in terms of the alleles present
Heterozygous Having two different alleles of a particular gene; therefore, a heterozygous individual will not
be pure breeding
Homozygous Having two identical alleles of a particular gene; two homozygous individuals that breed
together will be pure breeding
Inheritance The transmission of genetic information from generation to generation
Phenotype The observable features of an organism
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Recessive An allele that is expressed only when no dominant allele of the gene is present in the genotype
Codominance A situation in which both alleles in a heterozygous organism contribute to the phenotype
Diploid nucleus A nucleus containing two sets of chromosomes
Haploid nucleus A nucleus containing a single set of chromosomes
Meiosis Reduction division in which the chromosome number is halved from diploid to haploid, resulting
in genetically different cells
Mitosis Nuclear division giving rise to genetically identical cells
Sex-linked A feature in which the gene responsible is located on a sex chromosome, which makes it more
characteristic common in one sex than in the other
Stem cell An unspecialised cell that divides by mitosis to produce daughter cells that can become
specialised for specific purposes

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 17 Inheritance

Chromosomes, genes and proteins

The definitions of the terms gene and allele are given
at the start of this chapter. You need to learn these. different T
chromosome
pair
A chromosome is a thread-like structure of DNA alleles of
same gene
t
carrying genetic information in the form of genes. Each
chromosome is made up of a large number of genes
genes
coding for the formation of different proteins that give
us our characteristics. Figure 17.1 shows the relationship  Figure 17.1 The relationship between a chromosome
between a chromosome and the genes it carries. and the genes it carries

Diploid nucleus and haploid nucleus

The definitions of diploid nucleus and haploid nucleus are given
at the start of this chapter. In each diploid cell (nearly all body, or
somatic, cells) there is a pair of each type of chromosome (Figure 17.1).
In a human diploid cell, there are 23 pairs. Sex cells (sperm and ova)
are haploid, containing only 23 chromosomes. The 23 chromosomes
comprise one from each pair.

parent phenotype male female

The inheritance of sex
Of the 23 pairs of chromosomes present
sex chromosomes XY × XX
in each human cell, one pair is the sex
chromosomes. These determine the
gametes (sex cells) X Y × X X
sex of the individual. Males have XY,
females have XX. So, the presence of a
Y chromosome results in male features
developing. Figure 17.2 shows how sex is rst lial XX XX XY XY
generation (F1)
inherited. The ratio is
phenotype female female male male 1 female : 1 male

 Figure 17.2 How sex is inherited

The genetic code

The structure of DNA is described in Chapter 4. In summary:
l Each nucleotide carries one of four bases (A, T, C or G). A string of
nucleotides therefore holds a sequence of bases.
l Each group of three bases stands for one amino acid.
l A gene is a sequence of triplets of the four bases, which codes for
one protein molecule.
l The sequence of bases forms a code, which instructs the cell to
make particular proteins. Proteins are made from amino acids linked
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together (Chapter 4).

l The types and sequence of amino acids joined together will
determine the kind of protein formed and the shape of the protein
molecule.
l Insulin is a small protein with only 51 amino acids and therefore
153 (i.e. 3 × 51) bases in the DNA molecule. Most proteins are much
larger than this, and most genes contain a thousand or more bases.
The chemical reactions that take place in a cell determine the type
of cell it is and what its functions are. These chemical reactions are,
in turn, controlled by enzymes. Enzymes are proteins. Therefore, by
determining which proteins (particularly enzymes) are produced in

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 Mitosis

a cell, the genetic code of DNA also determines the cell’s structure
and function. In this way, the genes also determine the structure and
function of the whole organism. Other proteins coded for in DNA include
antibodies, membrane receptors and the receptors for neurotransmitters
(see details of synapses in Chapter 14).

The manufacture of proteins in cells

DNA molecules remain in the nucleus, but the proteins that they carry
the codes for are needed elsewhere in the cell.
l A molecule called messenger RNA (mRNA) is used to transfer the
information from the nucleus. mRNA is a copy of a gene.
l An RNA molecule is much smaller than a DNA molecule and is made
up of only one strand.
l To pass on the protein code, the double helix of DNA unwinds to
expose the chain of bases.
l One strand acts as template. An mRNA molecule is formed along
part of this strand, made up of a chain of nucleotides with
complementary bases to a section of the DNA strand.
l The mRNA molecule carrying the protein code then moves out of the
nucleus into the cytoplasm, where it passes through a ribosome.
l The mRNA molecule instructs the ribosome to put together a chain
of amino acids in a specific sequence, thus making a protein. Other
mRNA molecules will carry codes for different proteins.

Gene expression
Body cells do not all have the same requirements for proteins. For
example, the function of some cells in the stomach is to make the
protein pepsin (see ‘Chemical digestion’ in Chapter 7). Bone marrow
cells make the protein haemoglobin, but do not need digestive
enzymes. Specialised cells all contain the same genes in their nuclei,
but only the genes needed to code for specific proteins are switched on
(expressed). This enables the cell to make only the proteins it needs to
fulfil its function.

Mitosis
The definition of mitosis is given at the start of this chapter. Mitosis is
a form of cell division used for making new, genetically identical, cells
to enable growth or the replacement of old or damaged cells. Asexual
reproduction involves mitosis.
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Before the process starts, all the chromosomes are duplicated exactly.
During mitosis, the copies of the chromosomes separate and form two
nuclei with the same number of chromosomes as the parent nucleus
cell (the diploid number of chromosomes is maintained). At the end of
a mitotic cell division, the number of cells is doubled and the daughter
cells produced are genetically identical to the parent.
Although many textbooks show the stages of mitosis, you do not need
those details for the Cambridge IGCSE core or extended exam.

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 17 Inheritance

Stem cells
Stem cells are unspecialised cells in the body that have retained their
power of division by mitosis. The daughter cells produced can become
specialised for specific functions. Examples include the basal cells of
the skin, which keep dividing to make new skin cells, and cells in the
red bone marrow, which divide constantly to produce the whole range of
blood cells.

Meiosis
The definition of meiosis is given at the start of this chapter. Sex
cells (gametes) are formed in the gonads (ovaries and testes) by
meiosis. When ova are formed in a woman, all the ova will carry an X
chromosome. When sperm are formed in a man, half the sperm will carry
an X chromosome and half will carry a Y chromosome (Figure 17.3).
female male

diploid
XX XY
cell

meiosis
haploid
X Y sperm
haploid
ova X X

100% X 50% X , 50% Y

 Figure 17.3 The formation of sex cells by meiosis

Meiosis is called a reduction division because it involves halving the

normal chromosome number – the pairs of chromosomes are separated.
The gametes (sex cells) produced are haploid, but they are formed from
diploid cells.
At the end of the process, the cells produced are not all identical –
meiosis results in genetic variation. Both the maternal and paternal
chromosomes contain new combinations of genetic material.
Although many textbooks show the stages of meiosis, you do not need
those details for the Cambridge IGCSE core or extended exam.

Sample question
Complete the following passage, using only words from the list below.
diploid gametes haploid meiosis mitosis red blood cells
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The transfer of inherited characteristics to new cells and new

individuals depends on two types of cell division. During
the chromosomes are duplicated exactly and cells are
produced.
However, during the chromosome sets are first duplicated
and then halved, producing haploid cells. These cells will become
. [4]

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 Monohybrid inheritance

Student’s answer Revision activity

Construct a table to
During meiotosis ✗, the chromosomes are duplicated exactly and identical ✗ compare the features of
cells are produced. mitosis and meiosis.
However, during meiosis ✓, the chromosome sets are first duplicated and then
halved, producing haploid cells. These cells will become gametes. ✓

Teacher’s comments
The first answer is not clear – it mixes up the terms ‘mitosis’ and
‘meiosis’. Sometimes students do this deliberately when they are not
sure of the answer, hoping that they will be given the benefit of the
doubt – they will not. This student has not followed the instructions in
the question for the second answer: the term ‘identical’ does not appear
in the word list. The correct answers are ‘mitosis’ and ‘diploid’.

Monohybrid inheritance
You need to learn, and be able to use, definitions of seven genetic
terms: inheritance, genotype, phenotype, homozygous, heterozygous,
dominant and recessive. Definitions of these terms are given at the start
of this chapter.
Monohybrid inheritance involves the study of how a single gene is passed
on from parents to offspring. It is probably easiest to predict the outcome
of a monohybrid cross using a Punnett square (Figure 17.4). However, if
you have been taught the traditional way of displaying the cross (as shown
in Figure 17.2), there is nothing wrong with using that method.
All the genetic crosses shown will involve examples using pea plants,
which can be tall (T) or dwarf (t) – tall is dominant to dwarf.

Skills
alleles from above the box and from the left of
Constructing a Punnett square the box (Figure 17.4). Complete all four boxes.
l Draw a box that has four compartments.
l Above the top boxes, identify the gametes of T T
one parent, for example the male.
l On the left side of the boxes, identify the
gametes of the other parent, for example the t Tt
female.
l Circle the letters of the gametes to identify
them as gametes.
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t
l Complete the Punnett square by writing in the
genotype of each of the four offspring produced.
Do this by writing in the corresponding gamete  Figure 17.4 A Punnett square

Skills
your own. This usually results in a number of
Writing out a genetic cross marks being lost through errors that could
l Make sure you state what the symbols easily have been avoided.
represent – for example, l Make sure you label each line in the cross
T = tall, t = dwarf. (phenotype, genotype etc.).
l If you are given letters for alleles in genetics l It is a good idea to circle the gametes to show
questions, do not ignore them and make up that meiosis has happened.

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 17 Inheritance

If two identical homozygous individuals are bred together, the product of

the cross will be pure breeding. However, if one parent is pure-breeding
tall and the other parent is pure-breeding dwarf, there will be a different
outcome, as shown in the following example.
A cross between a pure-breeding tall pea A cross between two heterozygous tall
plant and a pure-breeding dwarf pea plant pea plants
As tall is dominant to dwarf, and both plants are The genotype of both plants must be Tt
pure breeding, their genotypes must be TT and tt (Figure 17.6).
(Figure 17.5). phenotypes of parents tall tall
phenotypes of parents tall dwarf
genotypes of parents Tt × Tt
genotypes of parents TT × tt
gametes T t × T t
gametes T T × t t

Punnett square T t
Punnett square T T
T TT Tt
t Tt Tt
t Tt tt
t Tt Tt

F1 genotypes 1 TT, 2 Tt , 1 tt
F1 genotypes all Tt
F1 phenotypes tall tall dwarf
F1 phenotypes all tall
ratio 3 tall : 1 dwarf
 Figure 17.5  Figure 17.6
Note that, as shown above, a heterozygous individual will not be pure breeding.

A cross between a heterozygous tall pea plant and a dwarf

pea plant
The heterozygous tall pea plant must be Tt. The dwarf pea plant must be
tt (Figure 17.7).
phenotypes of parents tall dwarf

genotypes of parents Tt × tt

gametes T t × t t

Punnett square T t

t Tt tt
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t Tt tt

F1 genotypes 2 Tt, 2 tt

F1 phenotypes tall dwarf

ratio 1 tall : 1 dwarf

 Figure 17.7

In exam questions involving genetic crosses, you often need to predict the
genotypes of the parents from descriptions of them. Remember that the
dominant allele normally takes the capital letter of the characteristic it
represents.
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 Monohybrid inheritance

Pedigree diagrams and inheritance

The term pedigree often refers to the pure-breeding nature of animals, but
is also used to describe human inheritance. Pedigree diagrams are similar
to family trees and can be used to demonstrate how genetic disorders can
be inherited. They can include symbols to indicate whether individuals
are male or female, and what their genotype is for a particular genetic
characteristic.
One genetic condition is called cystic fibrosis. Cystic fibrosis sufferers
tend to have a much shorter lifespan than normal, and suffer from
respiratory, digestive and reproductive problems.
l A person with cystic fibrosis has two recessive alleles (ff). A carrier
of the condition has one normal allele and one recessive allele (Ff). A
healthy person has two normal alleles (FF).
l A man who is not a carrier (FF) who has children with a woman who is
not a carrier (FF) will produce 100% children who are not carriers (all FF).
l If one parent is a carrier for cystic fibrosis (Ff) and the other parent
is not a carrier (FF), 50% of their children are likely to be carriers (Ff)
and 50% will not be carriers (FF).
l However, if both parents are carriers, then the likely ratio of offspring
of non-carriers/carriers/cystic fibrosis sufferers (FF:Ff:ff) is 1:2:1. So,
there is a 1 in 4 chance of a child born to these parents having cystic
fibrosis.
Figure 17.8 shows the inheritance of cystic fibrosis in a family.

Key
Raj Alisha
healthy non-carrier healthy non-carrier
male female
carrier male carrier female

Amoli Anwar Pavati Ved Saloni Zara Jay male with cystic female with cystic
fibrosis fibrosis

Jash Hem Anant Mishka Kabir Larisa Ira Luv Pahal Carina

 Figure 17.8 Pedigree diagram showing the inheritance of cystic fibrosis in a family

Parents Raj and Alisha are married and both are cystic fibrosis carriers.
However, because carriers have no symptoms of the disease, they may be
unaware that they have defective alleles for cystic fibrosis. They go on to
have four children. One child, Saloni, suffers from cystic fibrosis. The pedigree
diagram shows that she does not get married and has no children. The three
other children eventually get married and have children of their own.

The test-cross (back-cross)

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A test-cross can be used to identify an unknown genotype. For example,

a black mouse could have either the BB or the Bb genotype. One way
to find out which it has is to cross the black mouse with a known
homozygous recessive mouse (bb, having the phenotype of brown fur).
The bb mouse will produce gametes with only the recessive b allele. A
black homozygote (BB) will produce only B gametes.
l BB × bb will produce 100% black individuals (all Bb).
l Bb × bb will produce, on average, 50% black individuals (Bb) and
50% brown individuals (bb). This outcome identifies a parent that is
not pure-breeding.

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 17 Inheritance

Codominance
This term is defined at the start of this chapter. Codominance describes
a pair of alleles, neither of which is dominant over the other. This
means that both can have an effect on the phenotype when they are
present together in the genotype. The result is that there can be three
different phenotypes. Therefore, codominance results in the appearance
of a new characteristic that is intermediate to the parents’ features. For
example, if the parents are pure-breeding for long fur and short fur, the
offspring will all have medium-length fur.
When writing the genotypes of codominant alleles, the common
convention is to use a capital letter to represent the gene involved, and
a small raised (superscript) letter for each phenotype.
Example
The alleles of the gene for flower colour in a plant are CR (red) and
CW (white). The capital letter C has been chosen to represent ‘colour’.
Pure-breeding (homozygous) flowers may be red (CRCR) or white (CWCW).
If these are cross-pollinated, all the first filial (F1) generation will be
heterozygous (CRCW), which are pink, because both alleles have an
effect on the phenotype.
Self-pollinating the pink (F1) plants results in a ratio in the next (F2)
generation of red:pink:white of 1:2:1.

Sample question
The alleles of the gene for flower colour in a plant are CR (red) and
CW (white). Pure-breeding (homozygous) flowers may be red (CRCR)
or white (CWCW). If these are cross-pollinated, all the first filial (F1)
generation are pink because the alleles are codominant.
a State the genotype of the first filial (F1) generation. [1]
b Write out a genetic cross as a Punnett square to show the results
of self-pollinating the pink (F1) plants. [3]
c Shade all the individuals associated with the Punnett square that
are pink. [1]
d State the ratio of colours of flowers produced from the cross. [1]

Student’s answer
a CRCW 
b Phenotypes of parents: pink flower pink flower
Genotypes of parents: CRCW CRCW
Gametes CR and CW CR and CW  (gametes)
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Punnett square:
CRCW

CR CW (Punnett square)

CRCR CRCW (F2 genotypes)

CR
R W
C C
CW CWCR CWCW

c  (shading of all pink plants)

d 1 red : 2 pink : 1 white 

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 Sample question

Teacher’s comments
The student has completed this question well, gaining 5 out of the
6 marks available. In part b there were marks for construction of the
Punnett square, identification of the gametes and identification of the
F2 genotypes. The student had identified the gametes above the square
correctly. The only mark lost was in part c, where the student overlooked
the fact that parents involved in the cross are both pink, as well as two
of the F2 organisms.

Inheritance of the human ABO blood groups

These blood groups give an example of codominance. Instead of
two alleles being present, in this case there are three: IA, IB and Io.
Combinations of these can result in four different phenotypes: A,
B, AB and O. The alleles are responsible for producing antigens that
respond to foreign antibodies (this can result in blood clotting in blood
transfusions, and rejection of organs after transplant operations).
However, while IA and IB are codominant, Io is dominated by both the
other alleles. This means, for example, that a person with blood group A
could have the genotype IAIA or IA Io. This has implications when having
children because, if both parents carry the Io allele, a child could be
born with the genotype IoIo (blood group O), even though neither of
the parents has this phenotype.
Example
Two parents have blood groups A and B. The father is IAIo and the
mother is IBIo (Figure 17.9).
phenotypes of parents blood group A blood group B

genotypes of parents IAIO × IBIO

gametes IA IO × IB IO

Punnett square IA IO

IB IAIB I BI O

IO IAIO IO IO

F1 genotypes IAIO, IBIO, IAIB, IOIO

F1 phenotypes A B AB O
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ratio 1 : 1 : 1 : 1

 Figure 17.9

Sex linkage
The definition of a sex-linked characteristic is given at the start of
this chapter.
The sex chromosomes (X and Y) carry genes that control sexual
development, but they also carry genes that control other
characteristics These tend to be on the X chromosome, which has longer
arms to the chromatids. Even if the allele is recessive, because there is

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 17 Inheritance

no corresponding allele on the Y chromosome, it is bound to be

expressed in a male (XY). There is less chance of a recessive allele being
expressed in a female (XX) because the other X chromosome may carry
the dominant form of the allele.
One example of this is red-green colour blindness (Figure 17.10). In
the following case, the mother is a carrier of colour blindness (XR Xr).
This means that she shows no symptoms of colour blindness, but the
recessive allele causing red-green colour blindness is present on one of
her X chromosomes. The father has normal colour vision (XRY).
If the gene responsible for a particular condition is present on only
the Y chromosome, only males can suffer from the condition because
females do not possess the Y chromosome.
phenotypes of parents mother: father:
normal vision normal vision

genotypes of parents XRXr × XRY

gametes XR Xr × XR Y

XRXr

Punnett square XR Xr

XR XRXR XRXr
XRY
Y XRY XrY

F1 genotypes XRXR XRXr XRY XrY

F1 phenotypes 2 females with normal vision; 2 males,

one with normal vision,
one with red-green colour blindness

 Figure 17.10

Exam-style questions
1 a Distinguish between a gene and an allele. [2]
b Draw a diagram to show that the inheritance of sex in humans
produces 50% males and 50% females. [4]
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2 Complete the following table to identify whether each of the

following statements about DNA and protein formation is true
or false. [8]

Statement True/false
a The four bases present in DNA are A, C, G and P
b Each group of four bases codes for one amino acid
c A gene codes for one amino acid molecule

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 Exam-style questions

Statement True/false
d To make proteins, DNA must pass through the
nuclear membrane
e mRNA instructs mitochondria to make a protein
f mRNA is a copy of a gene
g One of the genes on a DNA molecule will code for a
fatty acid
h The gene for making a protein containing 56 amino
acids will be made up of 168 bases

3 a The nucleus of a human liver cell contains 46 chromosomes.

Copy and complete the table below to show how many
chromosomes would be present in the cells listed. [3]

Type of cell Number of chromosomes

Ciliated cell in windpipe
Red blood cell
Ovum

b Describe two differences, other than the number of

chromosomes, between nuclei produced by mitosis and
those produced by meiosis. [2]

4 Distinguish between:
a genotype and phenotype [2]
b homozygous and heterozygous [2]
c dominant and recessive [2]
5 Peas can be round or wrinkled, with round being dominant to
wrinkled. State the genotype of each of the pea seeds described
below.
a a heterozygous round pea [1]
b a wrinkled pea [1]
c a pure-breeding round pea [1]
6 Copy and complete the passage by writing the most appropriate
word from the list in each space.
chromosome diploid gene heterozygous meiosis
mutation phenotype recessive dominant
Petal colour in pea plants is controlled by a single that
has two forms, red and white. The pollen grains are produced by
. After pollination, fertilisation occurs and the gametes
join to form a zygote.
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When two red-flowered pea plants were crossed with each other,
some of the offspring had white flowers. The of the rest
of the offspring was red flowers. The white-flowered form is
to the red-flowered form and each of the parent plants
was therefore . [6]

7 Explain why a male cannot be a carrier of red-green colour

blindness. [2]

122 Cambridge IGCSE Biology Study and Revision Guide Third Edition