Chapter 16

Inheritance

LEARNING INTENTIONS
In this chapter you will learn how to:
• describe the process of meiosis, and explain its significance in terms of maintaining chromosome number
in sexual reproduction and producing genetically different offspring
• describe and explain how different alleles of genes affect phenotype
• construct and interpret genetic diagrams showing monohybrid crosses, including the involvement of
dominant, recessive and codominant alleles and sex linkage
• construct and interpret genetic diagrams showing dihybrid crosses, including the involvement of
dominant, recessive and codominant alleles, autosomal linkage and epistasis
• use the chi-squared test to determine the significance of differences between observed and expected
results in genetic crosses
• explain the relationship between genes, proteins and phenotype, using the genes TYR, HBB, F8 and HTT
as examples
• explain how the alleles Le and le control gibberellin production and hence stem elongation
• use the lac operon to explain how gene expression is controlled in prokaryotes
• describe how transcription factors are involved in the control of gene expression in eukaryotes, including
the role of gibberellin and DELLA protein repressors in plants.

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BEFORE YOU START

Explain why mitosis produces cells that have the same structure and functions as their parent cell.
Think about:
• what determines the structure and function of a cell
• how the information about this is passed on from one cell to another during mitosis.

OCICATS
In the early 1960s a cat breeder in the USA crossed
a Siamese cat with an Abyssinian cat. These two
breeds have been around for a very long time.
The breeder was trying to produce a new type of
cat with the Siamese coat pattern and Abyssinian
colouring. She was therefore not especially
interested in one of the kittens that had a spotted
coat. She named him Tonga and sold him, asking
the buyer to have him neutered and not breed
from him.
Shortly after this, another cat breeder heard about
Tonga. He was very excited, as he wanted to breed
a spotted cat. He encouraged the original breeder
to try to produce more of them. So the Siamese and
Figure 16.1: A young ocicat. This breed, with its spotted
Abyssinian were crossed again, and another spotted
coat, was first developed in the 1960s.
kitten was produced. Over time, more breeders
became involved, and they gradually learnt which in genetics, nothing is ever certain, and a surprise is
crosses were likely to produce the spotted cats. always possible.
They called them ocicats, because the spotted coat
looked a little like the coat of a wild ocelot. Questions for discussion
Today, ocicats are bred in many different countries. • Using your knowledge of how genes function,
Breeders have chosen the parents carefully and have suggest how different forms of a gene can
now produced ocicats with several different colours. produce different coat colours in a cat or other
There is better understanding of the genes that animal.
produce the spotted coat, so that breeders are able • Thinking about genes and the way they work,
to predict the chances of any particular coat colour how do you think two cats with no spots might
appearing in the offspring of a cross. But, as always produce a kitten with spots?

16.1 Gametes and KEY WORDS

sexual reproduction: reproduction involving the
reproduction fusion of gametes (fertilisation) to produce a zygote
Cats and humans, like many animals, reproduce only gamete: a sex cell; during sexual reproduction,
by sexual reproduction. Many plants also reproduce in two gametes fuse together to form a zygote;
this way. Sexual reproduction involves the production gametes are usually haploid
of special sex cells, called gametes. The nuclei of two

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 16 Inheritance

gametes fuse together, in a process called fertilisation. from your father's sperm was joined with a set of
The cell produced by this fusion is called a zygote. The chromosomes from your mother's egg cell, as the nuclei
zygote then divides repeatedly by mitosis, producing a of these two gametes fused. It is therefore important
multicelled organism. This is how you and every other that gametes have only one set of chromosomes. A cell
human began their life. with a single set of chromosomes is said to be haploid.
You have seen that DNA, carried in chromosomes, You can use the letter n to signify the number of
contains instructions for making proteins in a cell. chromosomes in one set. A haploid cell has n number
Each cell needs a complete set of these instructions. of chromosomes, and a diploid cell has 2n. The number
Each chromosome contains a DNA molecule, which of chromosomes in a complete set varies in different
in turn contains the code for the synthesis of many species. In humans, n is 23. In a mosquito, it is 3. In an
different polypeptides or proteins. A length of DNA avocado tree, it is 12.
coding for one protein or polypeptide is called a
gene. When a cell divides, it is important that each
new (daughter) cell obtains a complete set of genes.
In Chapter 5 you saw how this is achieved in mitosis.
During sexual reproduction, however, something a
little different is required.

Haploid and diploid cells

In most of your body cells there are two complete sets
of chromosomes in the nucleus. (Red blood cells are an
exception, because they do not have a nucleus at all.) A
cell that has two complete sets of chromosomes is said to
be diploid. One complete set of chromosomes contains
one complete set of genes and therefore one complete
set of instructions for making all the proteins that the
organism needs. In humans, there are 23 chromosomes in
one complete set. There are therefore 46 chromosomes in
a diploid cell.
Figure 16.2 shows these two sets of chromosomes, Figure 16.2: The chromosomes in a nucleus of a human
taken from a human cell. Their individual photographs male, arranged in their homologous pairs. A photograph
have been moved around so that the chromosomes are like this is called a karyogram.
arranged in their matching pairs. Each chromosome
has a number. The chromosomes with the same number
contain the same genes in the same positions. These are KEY WORDS
said to be homologous chromosomes.
fertilisation: the fusing of the nuclei of two
gametes, to form a zygote
Questions
zygote: a cell formed by the fusion of the nuclei
1 Suggest why the chromosomes in Figure 16.2 have
of two gametes; most zygotes are diploid
been arranged in the order shown.
2 The karyogram is made by manipulating the diploid: containing two complete sets of
photographs of the chromosomes – they never do chromosomes; can be signified by the symbol 2n
actually line up neatly like this. Suggest at what
stage of the cell cycle the photographs are taken. homologous chromosomes: two chromosomes
Give a reason for your suggestion. that carry the same genes in the same positions
haploid: containing one complete set of
During sexual reproduction, each gamete contributes
chromosomes; can be signified by the symbol n
one set of chromosomes to form the zygote. You, for
example, began your life when a set of chromosomes

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Gametes need to be haploid so that, when their nuclei has already been copied, so that each one is made
fuse, a zygote is formed with the diploid number of up of two identical 'sister' chromatids joined at the
chromosomes. This is shown in Figure 16.3. centromere. Unlike mitosis, however, the chromosomes
now arrange themselves in homologous pairs. The two
chromosomes 1s, for example, line up side by side. Each
adult Sexual reproduction pair of homologous chromosomes is called a bivalent.
2n or The chromosomes in a bivalent are very closely
either associated. A chromatid of one of these chromosomes
intertwines with a chromatid of the other. Each
male female
gamete gamete crossing point is called a chiasma (plural: chiasmata).
n n There is almost always at least one, and often several,
chiasmata in each pair (Figure 16.5). The chiasmata
help to hold the chromosomes together in their pair, as
Fertilisation
Growth they move through the next stages. Part of a chromatid
from one chromosome may break and rejoin with the
chromatid from the other chromosome. This is called
zygote
2n crossing over, and you will learn about its significance
later in this chapter.

Figure 16.3: An outline of the life cycle of a mammal. Just as in mitosis, the centrioles migrate to opposite
ends of the cell during prophase I, and form spindle
fibres made from microtubules. These begin to attach
themselves to the centromeres of the homologous pairs
Question of chromosomes. The nuclear envelope breaks down,
and the nucleolus disappears.
3 Look at the diagram in Figure 16.3. At what stage
or stages does nuclear division by mitosis occur?
Metaphase I
The spindle fibres, attached to the centromeres, now
Meiosis move the bivalents to the equator of the cell. The
Meiosis is a type of nuclear division that produces homologous chromosomes in each bivalent remain
haploid cells from a diploid cell. It is used in the attached to each other at the chiasmata.
production of gametes in animals and plants.
You have already studied the events that take place KEY WORDS
in mitosis. You may like to look back at Chapter 5 to
remind yourself of these, before you read further in meiosis: nuclear division that results in the
this chapter. production of four daughter cells with half the
chromosome number of the parent cell and with
Figure 16.4 summarises the events that take place during reshuffled alleles; in animals and plants it results
meiosis. Keep looking at that series of diagrams as you in the formation of gametes
read the description in the next few paragraphs.
bivalent: two homologous chromosomes lying
Meiosis has two divisions, not one as in mitosis. These alongside each other during meiosis I
are called meiosis I and meiosis II. Each division has
chiasma (plural: chiasmata): a position at
the same sequence of stages as in mitosis – prophase,
which non-sister chromatids of homologous
metaphase, anaphase and telophase.
chromosomes cross over each other

Prophase I crossing over: the exchange of alleles

between non-sister chromatids of homologous
Meiosis begins, as in mitosis, as the chromosomes chromosomes during meiosis I
condense and become visible. Each chromosome

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 16 Inheritance

Meiosis I 3 Late prophase I

1 Early prophase I
– as mitosis early prophase nuclear envelope
breaks up as in mitosis
2 Middle prophase I
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
Meiosis II
nucleolus
re-forming 7 Prophase II 8 Metaphase II
as mitosis
nuclear
cytokinesis envelope
and nucleolus
disperse
remains of spindle
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 16.4: Meiosis and cytokinesis in an animal cell.

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Anaphase I Cytokinesis
The spindle fibres begin to pull on the centromeres. This Usually, the cytoplasm now splits into two, forming
is where the next big difference from mitosis occurs. two complete cells, each with the haploid number of
Instead of each chromosome being pulled apart into chromosomes.
its two chromatids, it is the two whole chromosomes
in each bivalent that are pulled apart. The centromeres Prophase II, metaphase II, anaphase II
remain intact, continuing to hold the two chromatids of
one chromosome firmly together.
and telophase II
Next, each of the newly formed haploid cells undergoes
a division almost identical to mitosis. This is called
Telophase I the second division of meiosis. Look carefully at
The chromosomes now arrive at opposite ends of the Figure 16.4, which will remind you of the sequence of
dividing cell. The spindle fibres have completed their events that takes place.
task of pulling the chromosomes apart, and the fibres
now break down. In most animals, a nuclear envelope The overall result of meiosis is the formation of four
forms around each set, and the nucleolus generally haploid cells from one diploid cell. As you will see,
reforms. This may not happen in plant cells, which may these cells are not genetically identical to each other.
go straight into the next stage. Although they each contain one complete set of
chromosomes carrying the same genes, the alleles of
What has taken place up to this point is called a these genes are not necessarily the same. In the next
reduction division. Each new cell contains one complete section you will see how the events of meiosis result in
set of chromosomes – one from each homologous genetic variation among the daughter cells.
pair. The original cell was diploid, with two sets of
chromosomes. The new cells are haploid.
KEY WORD
reduction division: nuclear division that results
a in a reduction in chromosome number; the first
division of meiosis is a reduction division

bivalent
chiasmata

Figure 16.5: a Photomicrograph of bivalents in prophase I of meiosis, showing chiasmata. A chiasma shows that crossing over
has occurred between two non-sister chromatids. b Interpretive drawing of one bivalent.

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 16 Inheritance

Questions 16.2 The production of

4 Name the stage of meiosis at which each of the
following occurs. Remember to state whether the
stage you name is during division I or division II.
genetic variation
You have seen that each chromosome in a homologous
a Homologous chromosomes pair to form
pair contains the same genes, in the same positions.
bivalents.
The position of a gene on a chromosome is called its
b Crossing over between chromatids of locus (plural: loci). For example, the fruit fly Drosophila
homologous chromosomes takes place. melanogaster has 5 pairs of chromosomes. On each
c Homologous chromosomes separate. chromosome 2, there are genes that help to determine
d Centromeres split and chromatids separate. the formation of antennae on the fly’s head, the colour
e Haploid nuclei are first formed. of its body, the colour of its eyes, and its wing length.
5 A cell with three sets of chromosomes is said to be Figure 16.5a shows the loci of these genes. Note that there
triploid, 3n. A cell with four sets of chromosomes is are many more genes on this chromosome than are shown.
said to be tetraploid, 4n. Could meiosis take place You may remember that genes can exist in different
in a 3n or a 4n cell? Explain your answer. forms, called alleles. For example, a gene that
6 The diploid (2n) chromosome number of determines the colour of a fruit fly’s eyes may have
Drosophila is 8. Copy and complete Table 16.1 to different alleles that code for red eyes or brown eyes.
show the different outcomes of mitotic and meiotic Figure 16.6b shows two alleles of each of the four genes
division of a Drosophila cell. shown in Figure 16.6a.

Mitosis Meiosis
KEY WORDS
number of division cycles
number of daughter cells locus (plural: loci): the position of a gene on a
chromosome
number of chromosomes
per nucleus in daughter cells allele: a variety of a gene

Table 16.1: Table for Question 6.

a
gene determining
length of appendages gene determining gene determining gene determining
on head body colour wing length eye colour

b
allele for
allele for long antennae allele for grey body normal wings allele for red eyes

allele for short antennae allele for ebony body allele for allele for brown eyes
vestigial wings

Figure 16.6: a The loci of four genes on a chromosome in the fruit fly, Drosophila melanogaster; b some of the possible
alleles of these four genes.

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So, in a diploid cell, each member of a pair of alleles E and a, coding for long antennae and brown
homologous chromosomes may contain different alleles eyes
of the same gene. The two homologous chromosomes
alleles e and A, coding for short antennae and red eyes
are not genetically identical.
Later in this chapter you will see how this affects the
Two processes that happen during meiosis I result in
offspring (young) of an organism in which crossing over
a mixture of these alleles that is not the same in every
takes place.
daughter cell. These processes are crossing over and
independent assortment. pair of homologous chromosomes in parent cell

Genetic variation arising from E E e e

crossing over A A a a
You have seen how, during meiosis I, pieces of
chromatids from one chromosome in a bivalent can
exchange places with the equivalent piece on the
other chromosome. This is called crossing over, and it
if crossing over does not happen if crossing over happens
produces different combinations of alleles on the two
chromosomes.
Let’s think, for example, about two of the genes shown E E e e E E e e
in Figure 16.6 – the one that determines the length of
the head appendages, and the one that determines eye
A A a a A A a a
colour. The gene for antenna length has two alleles.
Allele E gives long antennae, and allele e gives short
ones (a condition called aristopedia). The gene for eye
colour also has two alleles, R which gives red eyes, and r
which gives brown eyes (Figure 16.7). alleles in gametes produced:
with no crossing-over with crossing-over
The original cell has all four of these alleles. You can see
that, on one of the homologous pairs of chromosomes,
the alleles for these two genes are E and A. On the other E e E e
homologous chromosome, the alleles are e and a.
Now look at what happens when these chromosomes A a a A
pair up during meiosis. In some of the cells undergoing
meiosis, crossing over between these two gene loci does not
happen. The alleles stay on their own chromosome. But in Figure 16.7: How crossing over produces genetic variation
some of the cells, crossing over switches the positions of in daughter cells.
the alleles. Now the alleles on one chromosome are E
and a, and on the other they are e and A.
At the end of meiosis, when the new daughter cells Genetic variation arising from
(gametes) are finally formed, each one gets just one
chromatid from each chromosome. Some will get the independent assortment
non-crossed-over chromatids, so will have either E and So far, you have looked at how the swapping of alleles
A or e and a. But some will get crossed-over chromatids, between two homologous chromosomes can produce
and they will have either E and a or e and A. genetic variation in the daughter cells. Now you need
This means that there are four different kinds of gamete: to think about how the combinations of different
chromosomes can also cause genetic variation.
alleles E and A, coding for long antennae and red eyes
Think about the events that lead up to metaphase I in
alleles e and a, coding for short antennae and brown eyes
meiosis. You will remember that the chromosomes have

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 16 Inheritance

already paired up, and are now pulled to the equator Thinking about the combinations of chromosomes
of the cell by the spindle fibres. Each pair can be either alone, there are actually 8 324 608 different possibilities.
way up (Figure 16.8). Their orientation (arrangement) You can work this out by calculating 2n, where n is
is entirely random. The orientation of one pair has no the haploid number of chromosomes. Then factor in
effect on the orientation of any other pair. all the different alleles of all the different genes on
these chromosomes and you can see that the possible
As the homologous chromosomes are pulled apart, the
variations are enormous.
combination of alleles that ends up in the daughter
cells depends on how these chromosomes were lined up.
Looking at just two pairs of chromosomes, each with KEY WORD
one gene, you can see that four different combinations
of alleles are possible. Now imagine how many independent assortment: the production of
combinations of alleles you can get with 23 pairs of different combinations of alleles in daughter
chromosomes, each with hundreds or thousands of cells, as a result of the random alignment of
genes on them. It would seem to be almost limitless. bivalents on the equator of the spindle during
The ability of any allele to find itself in the same cell as metaphase I of meiosis
any other allele is called independent assortment.

The cell that is about

to divide has two pairs A d Genetic variation arising from
of chromosomes. D
These carry alleles random fertilisation
A, a, D and d. a At metaphase of The two sources of genetic variation you have looked
meiosis I, the pairs at so far – crossing over and independent assortment
of homologous – both result in different combinations of alleles in
chromosomes line gametes. If you assume that any male gamete can fuse
up on the equator
with any female gamete, each with these potentially
independently of
each other. For two
large amounts of variation between them, you can
pairs of chromosomes, see that the new individuals produced as a result of
there are two possible sexual reproduction have almost no chance of being
orientations. genetically identical. They will inevitably have different
combinations of alleles.
A d A D Table 16.2 summarises the causes and effects of these
or
a a
three sources of genetic variation.
D d

A
d
d A
D
D 16.3 Genetics
A A Genetics is the study of how characteristics that are
determined by genes are passed down from a parent or
or
parents to their offspring.
d d
D
a D You will remember that a gene is a length of DNA
a a a
that codes for the production of a polypeptide
molecule. The code is held in the sequence of
At the end of meiosis II, each orientation gives two types of nucleotide bases in the DNA. A triplet of three bases
gamete. There are therefore four types of gamete altogether.
codes for one amino acid in the polypeptide that will
Figure 16.8: How independent assortment produces be constructed on the ribosomes in the cell (Chapter 6,
genetic variation in daughter cells. Section 6.5, Protein synthesis). One chromosome
contains enough DNA to code for many polypeptides.

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Source of genetic variation How it causes variation Effect

crossing over during prophase I changes the combination of alleles of genetic variation between
of meiosis one or more genes that are carried gametes produced by an
on a chromosome, and therefore the individual
overall combination of alleles on that
chromosome
independent assortment during random orientation of bivalents results genetic variation between
metaphase I of meiosis in many different combinations of gametes produced by an
chromosomes and therefore many individual
different combinations of alleles
random fusion of gametes any male gamete can fuse with any genetic variation between
female gamete resulting individual organisms

Table 16.2: The causes and effects of the three sources of genetic variation.

The next sections describe basic genetics, including two copies of the coat colour gene in each of its cells.
monohybrid crosses, which you may already have These will be the same in every cell, because all of the
studied at IGCSE or O Level. If so, these sections will cells in its body have been produced by mitosis from the
be revision for you, and you may like to skim quickly zygote from which the rabbit began its life.
through them and then concentrate on Section 16.5,
There are three combinations of the alleles of this gene
Dihybrid inheritance.
that a rabbit could have. It could have two copies of the
B allele, or two copies of the b allele, or one of each.
You can write these as BB, bb or Bb. These are the
Genes and alleles possible genotypes of the rabbit – the combination of
Let’s imagine a gene that determines coat colour in a alleles that it has. A genotype in which both alleles are
species of mammal – let’s say a type of rabbit. This gene the same is said to be homozygous. A genotype in which
codes for an enzyme. The enzyme catalyses a step in a the two alleles are different is heterozygous.
metabolic pathway that produces a pigment. Now let’s think about the effect that these genotypes will
This gene is found at the same locus (position) on the have on the coat colour of the rabbit. The allele B codes
same chromosome in all members of this species of for the production of a functional enzyme, so any rabbit
rabbit. However, there are several slightly different forms with this allele will have a brown coat. The allele b codes
of this gene, each with a very slightly different sequence for a non-functional enzyme, so if a rabbit has only this
of nucleotide bases. As you have seen, these different allele, it has a white coat. The observable characteristics
forms of the same gene are called alleles. of an organism are called its phenotype, so these colours
are part of the phenotype of the rabbit. The relationship
Let’s say that there are just two alleles of this coat
colour gene. One allele codes for an enzyme that results
in the production of a brown pigment, and therefore a KEY WORDS
brown coat. You can use the symbol B to stand for this
allele. The other allele codes for an enzyme that cannot genotype: the alleles possessed by an organism
function properly. No pigment is produced, and the homozygous: having two identical alleles of
rabbit has a white coat. You can use the symbol b for a gene
this allele.
heterozygous: having two different alleles of
a gene
Genotype and phenotype phenotype: the observable features of an
organism; it is affected by genes and also
You have seen that every body cell contains two copies
by environment
of each type of chromosome. This means that every cell
contains two copies of every gene. A rabbit therefore has

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 16 Inheritance

between genotype and phenotype can be summarised

like this: 16.4 Monohybrid
genotype
BB
phenotype
brown coat
inheritance and genetic
Bb brown coat diagrams
bb white coat In this section you look at how the alleles for a single
In this example, the coat colour of a rabbit with the gene are passed from one generation to the next. This is
genotype BB is the same as one with the genotype Bb. known as monohybrid inheritance.
Allele B is dominant, and allele b is recessive. Allele b Imagine that a heterozygous brown rabbit and a white
only affects the phenotype when no allele B is present. rabbit are crossed. You can use your knowledge of
This is not true for all alleles of genes. For example, genotypes, phenotypes and what happens during meiosis
in humans, blood groups are coded for by a gene that to predict the probable coat colours of their offspring.
has three alleles (multiple alleles). Allele A gives blood You will remember that meiosis produces gametes,
group A, and allele B gives blood group B. However, if and that these gametes have only a single set of
a person has one copy of A and one of B, they have the chromosomes – they are haploid. This means that each
blood group AB. These alleles are codominant – they gamete has only one copy of each gene, rather than two.
both have an effect in a heterozygous person.
In this example, the heterozygous brown rabbit is male.
When you are dealing with codominant alleles, it His genotype is Bb. In his testes, sperm are produced by
is generally a good idea to show them in a slightly meiosis. Half of the sperm receive a B allele, and half
different way from that used for the dominant / receive a b allele. The white female rabbit, with genotype
recessive coat colour genes. For codominance, you use bb, produces eggs which all have the allele b.
a capital letter for the gene, and then superscripts for
the different alleles. So, for the blood group alleles, When the rabbits mate, the sperm swim through the
the symbols are IA for the group A allele and IB for the female’s reproductive system towards her eggs. It is pure
group B allele. chance whether a sperm with a B allele or one with a b
allele reaches each egg first. There is therefore an equal
The blood group gene also has a third allele, which chance that a zygote will have the genotype Bb or the
codes for blood group O. This allele is recessive to the genotype bb. You would therefore expect roughly half of
group A and group B alleles. Its symbol is therefore Io, the offspring to be Bb, with brown coats, and half to be
where the superscript o is a small letter (not a capital bb, with white coats.
letter). To summarise:
genotype phenotype
KEY WORDS
A A
I I blood group A
dominant: a dominant allele has the same effect
IAIB blood group AB on phenotype, whether or not another allele is
IAIo blood group A present
IBIB blood group B recessive: a recessive allele only affects
B o
II blood group B phenotype if no dominant allele is present
o o
II blood group O multiple alleles: the existence of three or
more alleles of a gene, as, for example, in the
When you are answering genetics questions, it is
determination of A,B,O blood groups
usually a very good idea to write down all the possible
combinations of alleles – all the different genotypes – codominant: codominant alleles each affect
and the phenotypes that they produce. This will help phenotype when both of them are present
you a lot as you work through the genetics problem.
monohybrid inheritance: inheritance of one gene

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You can show all of this in a genetic diagram. This is a standard way of predicting what you would expect happen as
the result of a genetic cross.

parental phenotypes brown coat × white coat

parental genotypes Bb bb
parental gametes B or b all b

male gametes
B b
offspring genotypes female b Bb bb
and phenotypes gametes
brown coat white coat

predicted offspring ratio: 1 brown coat : 1 white coat

Now consider what you would expect to happen if two heterozygous rabbits are crossed. The genetic diagram for this
cross is as follows.

parental phenotypes brown coat × brown coat

parental genotypes Bb Bb
parental gametes B or b B or b

male gametes
B b
offspring genotypes female B BB Bb
and phenotypes gametes
brown coat brown coat
b Bb bb
brown coat white coat

predicted offspring ratio: 3 brown coat : 1 white coat

There are several important things to notice and

remember about genetic diagrams. KEY WORDS
• Always show the complete genetic diagram, genetic diagram: a standard format in which
including the headings at the left-hand side. This the results of a genetic cross are predicted and
makes clear to someone looking at your work explained
exactly what you are showing – and it also helps
Punnett square: part of a genetic diagram in
you to remember what you are doing!
which the genotypes of the offspring are worked
• The grid that is drawn part way through the genetic out from the genotypes of the gametes
diagram is called a Punnett square. A Punnett
square is not a genetic diagram! It is a part of a
genetic diagram.

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 16 Inheritance

• In the parental gametes line you are showing the If two homozygous individuals are crossed – for
different types of gamete that each parent can example, a homozygous brown rabbit, BB, with a
produce. If the parent is homozygous, as for the homozygous white rabbit, bb – the offspring are known
white parent in the first genetic diagram, there is as the F1 generation. They are, of course, always all
only one type of gamete that can be produced. heterozygous.
So you need only show this one type. There is no
If two of the F1 generation are crossed, their offspring
need to write down b and b . If you do that, you
are known as the F2 generation.
will still get the right answer at the end, but your
diagram will be unnecessarily complicated.
• You will usually be expected to show which Questions
phenotype is associated with which genotype, in 9 Construct a genetic diagram to show that all of the
the offspring. The easiest way to do this is to write offspring of a cross between a homozygous brown
the phenotype just underneath the genotype in the rabbit and a white rabbit are heterozygous brown
Punnett square. rabbits.
• It is important to remember that the predicted 10 Construct a genetic diagram to predict the ratios of
genotypes are all based on chance. You cannot be phenotypes in the F2 generation.
sure which sperm will fertilise which egg. In the
cross between the two heterozygous rabbits above, You will probably have noticed by now that, if an
the prediction is that there will be three times as individual shows the recessive phenotype, it must be
many brown offspring as white offspring. However, homozygous for the recessive allele. A white rabbit always
you should not be surprised if this does not work has the genotype bb. However, the genotype of a brown
out exactly. For example, if only two baby rabbits rabbit is unknown. It could be Bb, or it could be BB.
are born, they could both be brown. They could In order to determine the genotype of an individual
even both be white. showing the dominant characteristic in its phenotype, you
• Genetic diagrams involving codominant alleles can do a test cross. This involves crossing the unknown
are constructed in exactly the same way as in the individual with one showing the recessive phenotype.
example above, but of course using the correct By looking at the phenotypes of the offspring, you can
symbols for these alleles. obtain information about the genotype of the parent.

KEY WORDS
Questions
F1 generation: the offspring resulting from the
7 Construct a genetic diagram to predict the chance cross between individuals with a homozygous
that a child born to two parents, both with blood recessive and a homozygous dominant genotype
group AB, will have blood group B. Use the
symbols IA and IB to represent the alleles. F2 generation: the offspring resulting from a
cross between two F1 individuals
8 A woman with blood group A and a man with
blood group B have a child with blood group O. test cross: a genetic cross in which an organism
Use this information to determine the genotypes showing the dominant characteristic is crossed with
of the woman and the man, and then construct a a homozygous recessive organism; the phenotypes
genetic diagram to explain how the child inherited of the offspring can indicate whether the original
her blood group. Use the symbols IA, IB and IO to organism is homozygous or heterozygous
represent the alleles.

F1, F2 and test crosses Question

You now know enough to be able to answer most 11 a A test cross was carried out between a brown
questions about crosses involving different alleles of one rabbit and a white rabbit. Five brown offspring
gene. These are called monohybrid crosses. However, there and one white offspring were produced. Use
are three more terms that you need to be familiar with. a genetic diagram to show how this indicates
that the brown rabbit must be heterozygous.

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 CAMBRIDGE INTERNATIONAL AS & A LEVEL BIOLOGY: COURSEBOOK

b A test cross using a different brown rabbit A woman has two X chromosomes, each with one copy
produced four offspring, all of which were of this gene. She therefore has three possible genotypes.
brown. Explain why this indicates that the Because the genes are on the X chromosome, they are
brown rabbit may be homozygous but does not shown like this:
allow you to be sure about this.
genotype phenotype
F F
X X normal blood clotting
Sex linkage
XF Xf normal blood clotting
If you look back at Figure 16.2, you can see that the last
f f
two chromosomes in the karyogram are not the same XX haemophilia
as each other. These chromosomes are from a human
male. These chromosomes are the sex chromosomes. In A man, however, has only one X chromosome. There are
men, one of these is a short chromosome with very few therefore only two genotypes that he can have:
genes on it, called the Y chromosome. The other is much
longer, and contains many genes that are not found on genotype phenotype
the Y chromosome. This is called the X chromosome.
Men have one of each of these chromosome (XY) while XF Y normal blood clotting
women have two X chromosomes (XX). XYf
haemophilia
One of the genes on the X chromosome codes for the
production of a factor necessary for blood clotting,
called factor VIII. There are two alleles, a dominant one KEY WORD
that codes for the normal factor VIII, and a recessive
one which results in the lack of factor VIII. You can sex chromosomes: the chromosomes that
use the symbols F and f for these two alleles. A person determine sex; in humans, these are the X and Y
with only this recessive allele, and no dominant allele, chromosomes
does not make factor VIII. Their blood does not clot
normally, and they have haemophilia.

parental phenotypes normal female × normal male

parental genotypes XF Xf XF Y
parental gametes XF or Xf XF or Y

male gametes
Xf Y
female XF XF XF Y
gametes
XF female with male with
normal blood normal blood
offspring genotypes clotting clotting
and phenotypes
XF Xf XF Y

Xf female with male with

normal blood haemophilia
clotting

predicted offspring ratios: 2 females with normal blood

clotting : 1 male with normal blood clotting : 1 male with
haemophilia

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 16 Inheritance

This gene is said to be sex-linked. Because it is found ear length, E for long ears and e for short ears, where
only on the X chromosome, its inheritance is affected allele E is dominant and e is recessive. The gene for
by the sex of an individual. For example, the genetic coat colour and the gene for ear length are on different
diagram on the previous page shows the possible chromosomes.
offspring born to a heterozygous woman and a man
There are now several different genotypes and
with normal blood clotting.
phenotypes to consider:
Neither parent had haemophilia, yet there is a one
in four chance that they will have a boy child with genotype phenotype
haemophilia. The haemophilia allele comes from the BBEE brown fur, long ears
mother. She is a symptomless carrier for haemophilia.
BBEe brown fur, long ears
BBee brown fur, short ears
Questions BbEE brown fur, long ears
12 Explain why a boy cannot inherit haemophilia from BbEe brown fur, long ears
his father.
Bbee brown fur, short ears
13 There is a gene on the human X chromosome that
determines the ability to see the colours red and bbEE white fur, long ears
green. A common recessive allele prevents this, so bbEe white fur, long ears
that the person cannot tell the difference between
red and green. They are said to be red–green bbee white fur, short ears
colour-blind.
a Suggest suitable symbols for the two alleles of Notice how the genotypes are written. First you write
this gene. the genotype for one gene, immediately followed by the
genotype for the second gene. Do not mix up Bs with Es.
b Using your chosen symbols, construct a genetic
diagram to predict the chance that a child born Now consider the gametes that can be produced by a
to a man with normal vision and a woman rabbit with the genotype BbEe. During meiosis, the
who is heterozygous will be a colour-blind boy. chromosome with the B/b gene and the one with the E/e
(Remember to show the X and Y chromosomes, gene behave entirely independently of one another. At
as well as the symbols for the alleles.) the end of meiosis, this rabbit will produce four types
14 One of the genes for coat colour in cats is sex of sperm or eggs. Half will have allele B for coat colour,
linked. The allele CO gives orange fur, whereas CB and half will have allele b. Of these, half of those with
gives black fur. The two alleles are codominant allele B will have allele E for ear length and half will
and, when both are present, the cat has patches of have allele e. The same is true for those with allele b. So
orange and black, which is known as tortoiseshell. the genotypes of this rabbit’s gametes are:
a Explain why male cats cannot be tortoiseshell. BE Be bE be
b Draw a genetic diagram to show the expected
genotypes and phenotypes of the offspring
KEY WORDS
from a cross between an orange male and a
tortoiseshell female cat. sex-linked gene: a gene found on a region of a
sex chromosome that is not present on the other
sex chromosome; in humans, most sex-linked
16.5 Dihybrid inheritance genes are found on the X chromosome
carrier: an individual that possesses a particular
So far, you have looked at the inheritance of the alleles
allele as a single copy whose effect is masked
of just one gene. Now you will consider the inheritance
by a dominant allele, so that the associated
of two different genes. This is called dihybrid inheritance.
characteristic (such as a hereditary disease) is not
Let’s return to the example of rabbit coat colour (alleles displayed but may be passed to offspring
B and b for brown and white fur) and now consider ear dihybrid inheritance: the inheritance of two genes
length as well. Imagine that there are two alleles for

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Notice: • It is a good idea to always put the same gene first –

don’t swap the Bs and Es around.
• Just as for monohybrid crosses, the gametes have
only one copy of each gene. Let’s consider what happens if a rabbit with genotype
BbEe is crossed with a rabbit with genotype Bbee.
• You write the alleles of the two genes next to
each other.

parental phenotypes brown coat, long ears brown coat, short ears
parental genotypes BbEe × Bbee
parental gametes BE Be bE be Be be

gametes from one parent

Be be
BBEe BbEe
BE brown coat, brown coat,
long ears long ears
BBee Bbee
Be brown coat, brown coat,
gametes short ears short ears
offspring genotypes
from the other
and phenotypes BbEe bbEe
parent
bE brown coat, white coat,
long ears long ears
Bbee bbee
be brown coat, white coat,
short ears short ears

predicted ratio of phenotypes in offspring: 3 brown coat,

long ears : 3 brown coat, short ears : 1 white coat, long
ears : 1 white coat, short ears

Notice: • Take great care when writing the genotypes in the

Punnett square. Always write the two alleles of
• For the parent with genotype Bbee, only two types
one of the genes, followed by the two alleles of the
of gamete can be produced. You therefore need
second gene. Do not mix up Bs and Es.
only show these two types – you do not need to
write each one down twice. (If you do that, you will Another example of a dihybrid cross is shown on the
not go wrong, but your Punnett square will be twice next page.
as big as it needs to be and will take you twice as
long to complete.)

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 16 Inheritance

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
where A is dominant and a is recessive.
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)
where D is dominant and d is recessive.

parental phenotypes purple stem, cut leaves green stem, potato leaves
parental genotypes AaDd × aadd
parental gametes AD Ad aD ad ad

gametes from one parent

ad

AaDd
AD
purple stem, cut leaves

Aadd
Ad
gametes purple stem, potato leaves
offspring genotypes
from the other
and phenotypes
parent aaDd
aD
green stem, cut leaves

aadd
ad
green stem, potato leaves

predicted ratio of phenotypes in offspring:

four different phenotypes in a ratio of 1 : 1 : 1 : 1

This is an example of a dihybrid test cross. If you cross If you cross two tomato plants that are both
an individual showing the dominant characteristics heterozygous at both loci, you get a 9 : 3 : 3 : 1 ratio in
in their phenotype with one showing the recessive the offspring. This genetic diagram on the next page
characteristics, you can use the phenotypes of the shows why.
offspring to work out the genotype of the unknown
parent.

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 CAMBRIDGE INTERNATIONAL AS & A LEVEL BIOLOGY: COURSEBOOK

parental phenotypes purple stem, cut leaves purple stem, cut leaves
parental genotypes AaDd × AaDd
parental gametes AD Ad aD ad AD Ad aD ad

offspring genotypes and phenotypes

gametes of one parent

AD Ad aD ad
gametes AADD AADd AaDD AaDd
of the AD purple stem, purple stem, purple stem, purple stem,
other cut leaves cut leaves cut leaves cut leaves
parent
AADd AAdd AaDd Aadd
Ad purple stem, purple stem, purple stem, purple stem,
cut leaves potato leaves cut leaves potato leaves
AaDD AaDd aaDD aaDd
aD purple stem, purple stem, green stem, green stem,
cut leaves cut leaves cut leaves cut leaves
AaDd Aadd aaDd aadd
ad purple stem, purple stem, green stem, green stem,
cut leaves potato leaves cut leaves potato leaves

The expected phenotype ratios are therefore 9 purple 16 In a species of plant, the allele for tall stem is
stem, cut leaves : 3 purple stem, potato leaves : 3 green dominant to short. The two alleles for leaf colour,
stem, cut leaves : 1 green stem, potato leaves. giving green or white in the homozygous condition,
are codominant, producing variegated leaves in the
This 9 : 3 : 3 : 1 ratio is typical of a dihybrid cross where
heterozygote.
both parents are heterozygous at both gene loci.
A plant with tall stems and green leaves was
crossed with a plant with short stems and
Questions variegated leaves. The offspring from this cross
consisted of plants with tall stems and green
15 The allele for grey body colour in a species of
leaves and plants with tall stems and variegated
animal is dominant to white, and the allele for dark
leaves in the ratio of 1 : 1. Construct a genetic
eyes is dominant to the allele for pale eyes.
diagram to explain this cross.
a Using the symbols G and g for the alleles for
17 In a species of mammal, it is known that the allele
coat colour, and D and d for the alleles for eye
for black eyes, B, is dominant to the allele for
colour, draw a genetic diagram to show the
red eyes, b, and that the allele for long fur, F, is
genotypes and phenotypes of the offspring
dominant to the allele for short fur, f.
you would expect from a cross between a
homozygous grey animal with dark eyes and a a What are the possible genotypes for an animal
homozygous white animal with pale eyes. with black eyes and long fur?
b If this first generation of offspring were b How could you find out which genotype this
bred together, what would be the expected animal had?
phenotypes in the second generation of
offspring, and in what ratios would they occur?
Use a genetic diagram to explain your answer.

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 16 Inheritance

Epistasis a List the nine possible genotypes and the

phenotypes that each will produce.
Sometimes, two different genes on different chromosomes b Construct a genetic diagram to show how a
affect the same feature. The alleles of one gene affect the cross between a homozygous pink-flowered
expression of the other. This is called epistasis. Salvia and a homozygous white-flowered
For example, in the inheritance of feather colour in Salvia can produce offspring that all have
chickens, there is an interaction between two gene loci purple flowers.
on different chromosomes, F/f and G/g. The gene G/g c Construct a second genetic diagram to explain
determines whether or not the bird produces coloured why interbreeding these offspring produces an
feathers – allele G codes for a pigment that produces F2 generation with purple-, pink- and white-
coloured feathers, whereas allele g does not produce a flowered plants in the ratio of 9 : 3 : 4.
pigment, so the chicken has white feathers. However,
this is also affected by the gene F/f. The dominant allele,
F, prevents the production of coloured feathers, even if Autosomal linkage
the bird has allele G.
When two or more gene loci are on the same chromosome,
The possible genotypes and phenotypes are: they do not assort independently in meiosis as they would
if they were on different chromosomes. The genes are said
genotype phenotype
to be linked. They stay together in the same combinations
FFGG white feathers as in the parents, and are said to be linked.
FFGg white feathers Autosomal linkage involves the autosomes – that is, all
of the chromosomes except the sex chromosomes.
FFgg white feathers
The fruit fly, Drosophila, normally has a striped body and
FfGG white feathers
antennae with a feathery arista (Figure 16.9). The gene
FfGg white feathers for body colour and the gene for antennal shape are close
Ffgg white feathers together on the same chromosome and so are linked.

ffGG coloured feathers antenna

of normal
ffGg coloured feathers Drosophila antenna of
aristopedia
ffgg white feathers normal arista
Drosophila

Questions two claws at end of

18 Refer to the box above. A breed of chickens called leg-like antenna
White Leghorn have the genotype FFGG. Another 0.1mm
breed, White Wyandotte, have the genotype ffgg.
a Construct a genetic diagram to show that Figure 16.9: Normal and aristopedia Drosophila antennae.
the F1 offspring of a cross between a White
Leghorn and a Wyandotte chicken will have
white feathers. KEY WORDS
b Construct a second genetic diagram to predict
epistasis: the interaction of two genes at
the offspring phenotypes of a cross between
different loci; one gene may affect the expression
two of these F1 chickens.
of the other
19 In the plant Salvia the colour of the flowers is
autosomal linkage: the presence of two genes
affected by two genes, A/a and B/b. Allele B gives
on the same autosome, (any chromosome
purple flowers and is dominant to allele b, which
other than a sex chromosome) so that they
gives pink flowers. However, neither of these
tend to be inherited together and do not assort
colours can be produced unless allele A is also
independently
present.

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A black body with no stripes results from a recessive A fly homozygous for striped body and normal
allele called ‘ebony’. A recessive allele for antennal antennae was crossed with a fly homozygous for ebony
shape, called ‘aristopedia’, gives an antenna looking body and aristopedia antennae. All the offspring had
rather like a Drosophila leg, with two claws on the end. striped bodies and normal antennae. You can use a
genetic diagram to show this.
The alleles of these two genes that affect body colour
and antenna shape are: To help keep track of linked alleles in a genetic diagram,
it is best to bracket each linkage group. So, where you
body colour gene
would write EEAA for the genotype if there was no
E = allele for striped body linkage, here you write (EA)(EA).
e = allele for ebony body

antennal shape gene

A = allele for normal antennae
a = allele for aristopedia antennae

parental phenotypes male, striped body, female, ebony body,

normal antennae aristopedia antennae
parental genotypes (EA)(EA) × (ea) (ea)
parental gametes EA ea

male gametes
EA
offspring genotypes female (EA)(ea)
ea
and phenotypes gametes striped body, normal antennae

predicted phenotypes of offspring: all striped body, normal antennae

Now consider what will happen if a male from this F1 generation is crossed with a female with
ebony body and aristopedia antennae.

parental phenotypes male, striped body, female, ebony body,

normal antennae aristopedia antennae
parental genotypes (EA)(ea) × (ea) (ea)
parental gametes EA ea ea

male gametes

EA ea
(EA)(ea) (ea)(ea)
offspring genotypes female
ea striped body, ebony body,
and phenotypes gametes
normal antennae aristopedia antennae

predicted phenotype ratios of offspring:

1 striped body, normal antennae : 1 ebony body, aristopedia antennae

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 16 Inheritance

Question pieces of chromatids. Alleles from one homologous

chromosome can therefore change places with alleles
20 What ratio of phenotypes would you expect from the other. You may remember that this is called
from the cross of a male Drosophila from the F1 crossing over.
generation discussed with a female with ebony body
Crossing over breaks the linkage between genes on the
and aristopedia antennae if the genes for body
same chromosomes.
colour and antenna shape were not linked – that is,
they were on different chromosomes? (You may like Unusually, in male Drosophila, no crossing over takes
to use a genetic diagram to work out your answer.) place. (No one really knows why!) Crossing over does,
however, take place in female Drosophila. Let’s return to
the Drosophila cross described above and test cross the
Autosomal linkage and female offspring. These have the genotype (EA)(ea).

crossing over Figure 16.10 will help you to see how this results in four
different kinds of gametes, rather than the two types you
Complete linkage between genes on the same would expect if no crossing over takes place.
chromosome is very rare. You have seen that, during
prophase I of meiosis, homologous chromosomes swap

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

A a a A a a

Figure 16.10: Crossing over in a female Drosophila (on the left). No crossing over occurs in male Drosophila (on the right).

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Most of the offspring of this cross have their parents’ result from crossing over, which ‘recombines’ the
combinations of characteristics – that is, either striped characteristics of the original parents. The two
body, normal antennae or ebony body, aristopedia recombinant classes themselves are in a 1 : 1 ratio.
antennae. These are called parental types. They are in
The actual results of the cross are:
a 1 : 1 ratio. If linkage is complete, you would expect
all of the offspring to be like this – which is exactly striped body, normal antennae 44%
what happened with the test cross involving the male
Drosophila. ebony body, aristopedia antennae 44%

But when the female is involved in this test cross, some striped body, aristopedia antennae 6%
flies are produced that have different combinations of ebony body, normal antennae 6%
characters. Some have striped body and aristopedia
antennae, and some have ebony body with normal
You can show this with a genetic diagram:
antennae. These are called recombinants. They

parental phenotypes female, striped body, male, ebony body,

normal antennae aristopedia antennae
parental genotypes (EA)(ea) × (ea)(ea)
parental gametes large numbers of EA ea ea
small numbers of Ea eA

male gametes
ea

female (EA)(ea)
EA
gametes striped body, normal antennae
in large (ea)(ea)
offspring numbers ea
ebony body, aristopedia antennae
genotypes and
phenotypes female (Ea)(ea)
Ea
gametes striped body, aristopedia antennae
in small (eA)(ea)
numbers eA
striped body, normal antennae

Crossing over between two gene loci is more likely to recombinants you get in the offspring, the more crossing
take place if the genes are further apart, because over has taken place, and the further apart the genes are.
there is more length of chromosome between them that
can cross over. You can use this to get an idea
of the positions of genes on a chromosome. The more
Questions
21 (As you will quickly realise, this is a completely
KEY WORDS imaginary example!)
parental type: offspring that show the same The Rainbow family only marry within their family.
combinations of characteristics as their parents They have either yellow or blue hair and either
green or orange toenails.
recombinant: offspring that show different
The allele for yellow hair, Y, is dominant, as is the
combinations of characteristics from their parents
allele G for green toenails.

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 16 Inheritance

a A couple with genotypes YyGg and yygg have really are dominant, and if the alleles really do assort
a child. Predict the possible genotypes and independently, then you would expect the following
phenotypes of the child, if the genes are on numbers of each phenotype to be present in the offspring:
different chromosomes. 9
purple, cut = × 144 = 81
b Predict the possible genotypes and phenotypes 16
of the child, if the genes are on the same 3
chromosome and no crossing over occurs purple, potato = × 144 = 27
16
between the gene loci. 3
green, cut = × 144 = 27
c Explain how one of the children of this 16
couple could have a different combination of 1
hair colour and toenail colour from either of green, potato = × 144 = 9
16
their parents, even if the genes for these two
But imagine that the results actually observed among
characteristics are on the same chromosome.
these 144 offspring were:
22 Homozygous Drosophila with straight wings and
grey bodies were crossed with homozygous curled- purple, cut 86
wing, ebony-bodied flies. All the offspring were purple, potato 26
straight-winged and grey-bodied. Female offspring
were then test crossed with curled-wing, ebony- green, cut 24
bodied males, giving the following results: green, potato 8
straight wing, grey body 113 You might ask: are these results sufficiently close to the
straight wing, ebony body 30 expected results that the differences could have arisen
curled wing, grey body 29 by chance, or are they so different that something
curled wing, ebony body 115 unexpected must be going on?
a State the ratio of phenotypes expected in a To answer this question, you can use a statistical test
dihybrid test cross such as this, if there was no called the chi-squared (χ2) test. This test allows you
linkage and no crossing over. to compare the observed results with the expected
b Explain the discrepancy between the expected results and decide whether or not there is a significant
result and the results given. difference between them.
c Calculate the percentage of offspring that are
recombinants. KEY WORD
chi-squared (χ2) test: a statistical test that is
used to determine whether differences between
16.6 The chi-squared (χ2) observed and expected results are significant

test The first stage in carrying out this test is to work out the
If you look back at the cross between the two expected results. These and the observed results are then
heterozygous tomato plants in Section 16.5, Dihybrid recorded in a table like the one in Table 16.3. You can then
inheritance, you will see that a 9 : 3 : 3 : 1 ratio of calculate the difference between each set of results, and
phenotypes is expected in the offspring. It is important square each difference. (Squaring gets rid of any minus
to remember that this ratio represents the probability of signs – it is irrelevant whether the differences are negative
getting these phenotypes, and it would be surprising if or positive.) Then you divide each squared difference by
the numbers came out absolutely precisely to this ratio. the expected value, and add up all of these answers:
But just how much difference might scientists be (O − E)2
χ2 = ∑
happy with, before they began to worry that perhaps E
the situation was not quite what they had thought?
where: Σ = sum of
For example, imagine that the two plants produced a
total of 144 off spring. If the parents really were both O = observed value
heterozygous, and if the purple stem and cut leaf alleles E = expected value

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 CAMBRIDGE INTERNATIONAL AS & A LEVEL BIOLOGY: COURSEBOOK

Phenotypes of plants
purple stems, purple stems, green stems, green stems,
cut leaves potato leaves cut leaves potato leaves
Observed number (O) 86 26 24 8
Expected ratio 9:3:3:1
Expected number (E) 81 27 27 9
O–E +5 –1 –3 –1
2
(O – E) 25 1 9 1
2
(O – E) / E 0.31 0.04 0.33 0.11
2
(O − E)
χ2 = ∑ = 0.79
E

Table 16.3: Table of observed and expected results.

So now you have a value of χ2. Next you have to work This is the number of degrees of freedom in the results.
out what it means. To do this, you look in a table that The degrees of freedom take into account the number
relates χ2 values to probabilities (Table 16.4). The of comparisons made. (Remember that to get your value
probabilities given in the table are the probabilities for χ2, you added up all the calculated values. So, the
that the differences between the expected and observed larger the number of observed and expected values, the
results are due to chance. larger χ2 is likely to be. You need to compensate for this.)
To work out the number of degrees of freedom, simply
For example, a probability of 0.05 means that you would
calculate the number of classes of data minus 1. Here
expect these differences to occur in 5 out of every 100
you have four classes of data (the four possible sets of
experiments, or 1 in 20, just by chance. A probability of
phenotypes), so the degrees of freedom are: 4 – 1 = 3.
0.01 means that you would expect these differences to
occur in 1 out of every 100 experiments, just by chance. Now, at last, you can look at Table 16.4 to determine
whether the results show a significant deviation from
In this example, a probability of 0.05 is taken as being
what was expected. The numbers in the body of the
the critical one. If your χ2 value represents a probability
table are χ2 values. You look at the third row in the
of 0.05 or larger, then you can be fairly certain that the
table (because that is the one relevant to 3 degrees
differences between your observed and expected results
of freedom), and find the χ2 value that represents a
are due to chance – the differences between them are not
probability of 0.05. You can see that this is 7.82. The
significant. However, if the probability is smaller than
calculated value of χ2 was 0.79. So your value is a
0.05, then it is likely that the difference is significant, and
much, much smaller value than the one you have read
you must reconsider assumptions about what was going
from the table. In fact, there is nothing like this number
on in this cross.
in the table – it would be way off the left-hand side,
There is one more aspect of the results to consider representing a probability of much more than 0.1
before you can look up the value of χ2 in Table 16.4. (1 in 10) that the difference in your results is just due to

Probability that the difference between observed and expected results is due
Degrees of freedom to chance
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

Table 16.4: Table of χ2 values.

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 16 Inheritance

chance. So you can say that the difference between the

observed and expected results is very likely to be due to IMPORTANT
chance, and there is no significant difference between When you are writing gene abbreviations by
what was expected and what actually happened. hand, you can underline the symbol for the gene
As in other statistical tests, you often use a null to indicate italics, like this: TYR.
hypothesis when using χ2. The null hypothesis is that
there is no difference between your observed and
expected results. In other words, the null hypothesis says
that any difference between the observed and expected
results is due to chance. In this example, the χ2 value
The TYR gene, tyrosinase
you have calculated supports the null hypothesis. and albinism
Albinism provides a good example of the relationship
Question between a gene, an enzyme and a human phenotype.

23 Look back at your answer to Question 15b. In the In albinism the dark pigment melanin is totally or
actual cross between the animals in this generation, partially missing from the eyes, skin and hair. In humans
the numbers of each phenotype obtained in the this results in pale blue or pink irises in the eyes and
offspring were: very pale skin and hair (Figure 16.11). The pupils of the
eyes appear red. The condition is often accompanied by
grey body, dark eyes 54
poor vision, rapid, jerky movements of the eyes and a
grey body, pale eyes 4 tendency to avoid bright light.
white body, dark eyes 4
white body, pale eyes 18
Use a χ2 test to determine whether the difference
between these observed results is significant.

16.7 Genes, proteins

and phenotype
So far in the study of genetics, you have looked at the
effect that genes have on phenotype, without looking
into the mechanisms that cause these effects. In this
section you will look at four genes that affect human
phenotypes, and consider how the genes have these
effects. Figure 16.11: A boy with albinism with his classmates in
In this section a different convention is used for symbols South Africa.
for alleles of human genes. Previously, you have used a
single letter, but now you will use the general convention The TYR gene is found on the long arm of chromosome
for most human genes of a three-letter abbreviation, 11 (Figure 16.12). There is a faulty recessive allele that
written in italics. The same abbreviations are used by all results in albinism. About 1 in 17 000 children born
scientists whose work involves these genes. For example, worldwide are homozygous recessive for this allele
the gene for producing tyrosinase is shown as TYR. and therefore show albinism. However, the condition
The same three-letter code shown in normal type (not is relatively common in some populations, such as the
italics), TYR, represents the protein or polypeptide that Hopi in Arizona and the Kuna San Blas Indians in
the gene codes for. Panama.

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A person with this unusual β-globin can suffer severe

anaemia (lack of oxygen transported to the cells) and
TYR HBB may die. Sickle cell anaemia is especially common in
some parts of Africa and in India.
Figure 16.12: The loci of the TYR and HBB genes on A person with one copy of the normal HBB allele and
chromosome 11. one copy of the sickle cell allele makes some normal
haemoglobin and some sickle cell haemoglobin.
Melanin is produced by this metabolic pathway: They generally show no symptoms unless they are in
tyrosinase conditions where there is excessive oxygen demand by
their muscles – for example, exercising very vigorously.
tyrosine → DOPA → dopaquinone → melanin

A recessive allele of the gene for the enzyme tyrosinase The F8 gene, factor VIII and
results in either the absence of tyrosinase or the
presence of inactive tyrosinase in the cells where haemophilia
melanin is made. Tyrosine cannot be converted into
The F8 gene contains the code for synthesising a
DOPA and dopaquinone. The first two steps of the
protein called coagulation factor VIII. The protein is
conversion of the amino acid, tyrosine, into melanin
synthesised in liver cells. It is secreted into blood plasma
therefore cannot take place.
and plays an important role in the sequence of events
Tyrosinases occur in plant as well as in animal tissues. that takes place during blood clotting.
The action of the enzyme can be seen in the blackening
Abnormal alleles of this gene result in the production of
of a slice of potato left exposed to the air.
abnormal forms of factor VIII protein, less factor VIII
than usual, or even no factor VIII at all. This means that
blood does not clot normally, and excessive bleeding can
The HBB gene, haemoglobin follow from even a small injury. The condition is called
haemophilia.
and sickle cell anaemia
The F8 gene is found on a non-homologous region of
HBB is the gene that codes for the amino acid sequence
the X chromosome. This means that it is a sex-linked
in the β-globin polypeptide in haemoglobin. It is found
gene. Males have only one copy and cannot therefore
on the short arm of chromosome 11.
mask the effect of the faulty allele with a normal one.
In most people, the β-globin polypeptide begins with the Females can be heterozygous for this condition without
amino acid sequence coded from the normal allele: showing any symptoms at all, as only one copy of the
normal gene is required to result in the synthesis of
Val–His–Leu–Thr–Pro–Glu–Glu–Lys–
enough factor VIII.
But in people with an abnormal form of allele, the base
sequence CTT is replaced by CAT, and the amino acid
sequence becomes: The HTT gene, huntingtin and
Val– His–Leu–Thr–Pro–Val–Glu–Lys–
Huntington’s disease
This small difference in the amino acid sequence makes
little difference to the haemoglobin molecule when it is The locus of the HTT gene is on chromosome 4. This
combined with oxygen. But when it is not combined with gene codes for the production of a protein called
oxygen, the ‘unusual’ β-globin polypeptides make the huntingtin. Scientists still do not know exactly what
haemoglobin molecule much less soluble. The molecules this protein does, but it is known to be important in the
tend to stick to each other, forming long fibres inside development of neurones, particularly in the brain.
the red blood cells. The red cells are pulled out of shape, In some people, the nucleotide sequence of this gene
into a half-moon or sickle shape. When this happens, the contains a large number of repeated CAG triplets. (This
distorted cells become useless at transporting oxygen. is sometimes called a ‘stutter’.) If the number of repeats
They also get stuck in small capillaries, stopping any is over 40, neurone development is abnormal and
unaffected cells from getting through. the person develops Huntington’s disease. (If repeats

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 16 Inheritance

number between 36 and 39, the disease sometimes

develops but sometimes not.) The condition develops 16.8 Control of gene
gradually as a person gets older, and often no symptoms
show until the person is 30–40 years old. They begin
to lose their ability to control movements and to walk,
expression
talk or think clearly. The condition is fatal, with death A gene is said to be expressed when it is transcribed to
occurring within 15–20 years after symptoms first mRNA and then the mRNA is translated to produce a
appear. protein. Only a tiny proportion of the genes present in
the nucleus of a cell are actually expressed at any one
This faulty allele is dominant. There is therefore a one time. For example, the gene for melanin production will
in two chance that a person with a parent with the allele never be expressed in your heart muscle cells.
will inherit the condition. As the condition may not be
noticed until the person is adult, they may have had In this section you will look first at how the expression
children before they knew of the possibility of passing of a gene is controlled in a prokaryote organism, the
on Huntington’s. bacterium Escherichia coli. You will then consider the
control of gene expression in eukaryotes.

The Le gene, gibberellin and Gene control in prokaryotes

stem elongation An understanding of how genes are ‘switched on and
You are now going to look at the relationship between off’ first came from studies in bacteria. One of the most-
genes and phenotype that occurs in some types of plant. studied genes is the one that codes for the production of
In plants, the three-letter style used for most human the enzyme β-galactosidase (also known as lactase). This
genes is not always used. Traditionally, plant genes have enzyme is used by some bacteria to hydrolyse lactose in
been given a two-letter abbreviation. As in humans, the the bacterium’s environment to glucose and galactose,
symbol is shown in italics. which can then be absorbed and used as an energy
source by the cell.
The height of some plants is partly controlled by their
genes. For example, tallness in pea plants is affected The gene that codes for the production of
by a gene with two alleles, Le and le. If the dominant β-galactosidase is an example of a structural gene. A
allele, Le, is present, the plants can grow tall, but plants structural gene is one that codes for the production of
homozygous for the recessive allele, le, always remain a protein that is used by the cell. Some structural genes
short. The dominant allele of this gene regulates the live up to their name by coding for proteins that become
synthesis of the last enzyme in a pathway that produces part of a structure in the cell, but many structural genes
an active form of gibberellin, GA1. (You learnt about have other roles, such as coding for enzymes.
gibberellin in Chapter 15, Section 15.4, Control and The expression of the lactase gene is controlled by other
coordination in plants.) Active gibberellin stimulates genes that lie close to it on the circular DNA (DNA
cell division and cell elongation in the stem, so the plant molecule). These are called regulatory genes.
grows tall.
A recessive allele of this gene has one nucleotide that KEY WORDS
differs from the normal allele. This allele codes for
alanine instead of threonine at one position in the β-galactosidase: an enzyme that catalyses the
primary structure of the enzyme near its active site, hydrolysis of lactose to glucose and galactose
producing a non-functional enzyme. Homozygous structural gene: a gene that codes for a protein
plants, lele, are genetically dwarf as they do not have the that has a function within a cell
active form of gibberellin. Applying active gibberellin
to plants which would normally remain short, such as regulatory gene: a gene that codes for a protein
cabbages, can stimulate them to grow tall. that helps to control the expression of other
genes

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Structural and regulatory genes that work together are

generally found in a group, and this cluster of genes is KEY WORDS
called an operon. The operon that is responsible for the operon: a functional unit of transcription; a
production of lactase in bacteria is called the lac operon. cluster of genes that are controlled by the
The structure of the lac operon is shown in Figure 16.13. same promoter
In the bacterium Escherichia coli, the number of
lac operon: an operon (see above) found in
molecules of β-galactosidase present in a cell varies
some bacteria that controls the production of
according to the concentration of lactose in the medium
β-galactosidase and two other structural proteins
in which the bacterium is growing. The quantity of the
enzyme is altered by switching the transcription of the
β-galactosidase gene on or off. • The regulatory gene codes for a protein called a
The lac operon also contains other structural genes, repressor.
besides the one that codes for β-galactosidase. There are • The repressor binds to the operator region, close to
three structural genes altogether: the gene for β-galactosidase.
• lacZ, coding for β-galactosidase • Because the repressor is attached to the operator,
• lacY, coding for permease (which allows lactose to RNA polymerase cannot bind to DNA at the
enter the cell) promoter region.

• lacA, coding for transacetylase. • As a result, there is no transcription of the three

structural genes.
Transcription of all of these genes is controlled by the
same promoter, and they are all transcribed at the The repressor protein has two binding sites. This
same time. repressor protein can bind to DNA at one site and to
lactose at the other. When lactose binds to its site, the
The sequence of events when there is no lactose in the shape of the repressor protein changes so that the DNA-
medium in which the bacterium is growing is as follows. binding site is closed.

part of the lac operon

bacterium’s DNA

lacZ lacY lacA The regulatory gene codes for the

lac repressor protein.
promoter for promoter for operator
regulatory structural genes
gene regulatory
gene

structural genes

RNA polymerase lac repressor protein

When the lac repressor protein is
attached to the operator gene,
RNA polymerase cannot attach
to the DNA.

If lactose is present, it binds to

the lac repressor protein, which
is detached from the DNA. This
allows RNA polymerase to bind
lactose
and transcribe the operon’s
structural genes.

Figure 16.13: The lac operon.

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 16 Inheritance

When lactose is present in the medium in which the Some transcription factors bind to the promoter region
bacterium is growing, the following processes occur. of a gene, either allowing or preventing its transcription.
Their presence either increases or decreases the rate of
• Lactose is taken up by the bacterium.
transcription of a gene.
• Lactose binds to the repressor protein, distorting
There are many different types of transcription factors,
its shape and preventing it from binding to DNA at
which have different effects. Scientists have probably
the operator site.
discovered only a small proportion of them so far,
• Transcription is no longer inhibited and messenger and research continues to find new ones and increase
RNA is produced from the three structural genes. understanding of how they work. Some examples of the
effects of transcription factors include the following.
The genes have been switched on and are transcribed
You do not need to know any details of these but, if any
together. The bacterium can now absorb and break
of the bullet points in the list make you want to know
down lactose.
more, try an internet search for more information.
This mechanism allows the bacterium to produce
• General transcription factors are necessary for
β-galactosidase, permease and transacetylase only when
transcription to occur. They form part of the
lactose is available in the surrounding medium and to
protein complex that binds to the promoter region
produce them in equal amounts. It avoids the waste of
of the gene concerned.
energy and materials in producing enzymes for taking
up and hydrolysing a sugar that the bacterium may • Other transcription factors help to ensure that
never meet. However, the sugar can be hydrolysed when a number of different genes are activated in the
it is available. correct sequence. This is important to allow the
correct pattern of development of body regions as
The enzyme β-galactosidase is an inducible enzyme. This
a zygote gradually becomes an embryo and then
means that it is synthesised only when its substrate is
a fetus.
present. The presence of the substrate induces (causes)
the transcription of the gene for the enzyme. The • A transcription factor is responsible for the
binding of the effector molecule (which in this case is determination of sex in mammals.
lactose) to the repressor prevents the repressor from
• Transcription factors allow responses to
binding to the operator, the repressor is released and
environmental stimuli, such as switching on the
transcription proceeds.
correct genes to respond to high environmental
The production of other enzymes, called repressible temperatures.
enzymes, is controlled in a slightly different way. Here, the
• Some transcription factors, including the products
binding of the effector molecule to the repressor helps it
of proto-oncogenes and tumour suppressor genes,
to bind to the operator. So the repressor attaches to the
regulate the cell cycle, growth and apoptosis
operator region, which stops transcription.
(programmed cell death).
• Many hormones, such as testosterone, have their
Transcription factors in effect through transcription factors.

eukaryotes
Eukaryotes do not have operons as prokaryotes do. KEY WORDS
Instead, the expression of genes in eukaryotes is
controlled by transcription factors. inducible enzyme: an enzyme that is synthesised
only when its substrate is present
A transcription factor is a protein that binds to DNA
and affects whether or not a gene is transcribed. The repressible enzyme: an enzyme that is normally
role of transcription factors is to make sure that genes produced, and whose synthesis is prevented by
are expressed in the correct cell at the correct time and the presence of an effector
to the correct extent.
transcription factor: a molecule that affects
In humans, for example, about 10% of genes are thought whether or not a gene is transcribed
to code for proteins that act as transcription factors.

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Transcription factors act in similar ways in plants and Gibberellin has this effect by causing the breakdown of
animals. In Chapter 15, you saw that the plant hormone DELLA proteins (Figure 16.14). A molecule known as a
gibberellin controls seed germination in plants such DELLA protein is a repressor protein. DELLA proteins
as wheat and barley by stimulating the synthesis of normally inhibit the binding of a transcription factor,
amylase. This is a good example of how a hormone can such as phytochrome-interacting protein (PIF), to a
influence transcription. If gibberellin is applied to barley gene promoter. Gibberellin causes the breakdown of the
seeds, there is an increase in the transcription of mRNA DELLA protein, which allows PIF to bind to its target
coding for amylase. promoter. Transcription of the gene can then take place,
resulting in an increase in amylase production.

1 PIF cannot bond to a gene promoter 2 Gibberellin bonds with a

while it is bound to a DELLA protein. receptor and an enzyme.
This initiates the destruction
gibberellin of the DELLA protein.

gibberellin
receptor

DELLA enzyme

PIF

3 PIF can now bind with the promoter

and transcription can be initated.

transcription

DNA

Figure 16.14: How gibberellin activates the transcription of the amylase gene.

REFLECTION
In 2009 biological researchers developed the technology that allowed them to analyse the RNA of a
single cell. This has led to the identification of different types of cell in human tissues that were previously
unknown. The cells look identical to other cells, but their RNA shows that they are actually doing something
different.
For example, in 2018 a previously unknown type of cell was found in the lining of the trachea in mice. Now
named pulmonary ionocytes, these cells produce more of a protein called CFTR than do other cells in the
tracheal lining. This protein controls the movement of chloride ions out of cells. Water follows by osmosis,
and this helps to thin the mucus secreted by other cells in the lining.

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CONTINUED
Thinking about your knowledge of DNA and protein synthesis (Chapter 6, Section 6.5, Protein synthesis), the
functions of the cells in the lining of the trachea (Chapter 9, Section 9.3, Trachea, bronchi and bronchioles)
and the control of gene expression, consider:
• how cells that look identical and possess identical sets of genes can have different functions
• how analysing RNA, rather than DNA, from a single cell can help to identify a new type of cell
• how this newly discovered type of cell can help to prevent infections developing in the lungs.
What problems did you encounter when you were working on these questions? How did you solve them?

Final reflection
Discuss with a friend which, if any, part of Chapter 16 you need to:
• read through again to make sure you really understand
• seek more guidance on, even after going over it again.

SUMMARY

Homologous chromosomes are pairs of chromosomes in a diploid cell that have the same structure and the same
genes at the same loci, but not necessarily the same varieties of those genes.
Meiosis consists of two divisions. The first division, meiosis I, is a reduction division that separates the
homologous chromosomes, so that each cell now has only one of each pair. The second division, meiosis II,
separates the chromatids of each chromosome. Meiotic division therefore produces four cells, each with one
complete set of chromosomes.
Diploid cells contain sets of chromosomes and therefore two copies of each gene. In sexual reproduction,
haploid gametes are formed containing one set of chromosomes and therefore one copy of each gene. Each
offspring receives two copies of each gene, one from each of its parents.
The cells produced by meiosis are genetically different from each other and from their parent cell. This results from
independent assortment of the chromosomes as the bivalents line up on the equator during metaphase I, and also
from crossing over between the chromatids of homologous chromosomes during prophase I. Genetic variation also
results from random fertilisation, as gametes containing different varieties of genes fuse together to form a zygote.
An organism’s genetic constitution is its genotype. Its observable characteristics are its phenotype, which
is influenced by the expression of its genes. Different varieties of a gene are called alleles. Alleles may show
dominance, codominance or recessiveness. An organism possessing two identical alleles of a gene is homozygous;
an organism possessing two different alleles of a gene is heterozygous. If a gene has several different alleles, such
as the gene for human blood groups, these are known as multiple alleles.
A gene found on the X chromosome but not on the Y chromosome is known as a sex-linked gene. Genes that are
close together on a chromosome that is not a sex chromosome are said to be autosomally linked.
The genotype of an organism showing dominant characteristics can be determined by looking at the offspring
produced when it is crossed with an organism showing recessive characteristics. This is called a test cross.
Monohybrid crosses consider the inheritance of one gene. Dihybrid crosses consider the inheritance of two different
genes. Different genes may interact to affect the same phenotypic character, a situation known as epistasis.

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CONTINUED

The chi-squared (χ2) test can be used to find out whether any differences between expected results and observed
results of a genetic cross are due to chance or whether the difference is significant.
The HBB gene codes for the beta globin polypeptides in haemoglobin. An allele of this gene with a different
base sequence produces sickle cell haemoglobin. The allele of the HTT gene that is responsible for Huntington’s
disease includes a repeated triplet of nucleotides called a ‘stutter’. Albinism and haemophilia show the effect on
the phenotype of missing or inactive polypeptides.
The lac operon provides an example of how a prokaryote can alter the transcription of a cluster of structural
genes coding for enzymes concerned with lactose uptake and metabolism, depending on whether or not lactose
is present. ‘Structural’ genes code for the proteins required by a cell for its structure or metabolism, whereas
‘regulatory’ genes control the expression of other genes. A repressor protein can block the synthesis of a
‘repressible’ enzyme, by binding to the gene’s operator site. An ‘inducible’ enzyme is synthesised only when its
substrate is present.
Transcription factors in eukaryotes make sure that genes are expressed in the correct cell, at the correct time
and to the correct extent. In plants, gibberellins allow gene transcription by causing the breakdown of DELLA
proteins which inhibit the binding of transcription factors.

EXAM-STYLE QUESTIONS
1 a Distinguish between the terms genotype and phenotype. [2]
b Distinguish between the terms homozygous and heterozygous. [2]
c In sweet-pea plants, the gene A/a controls flower colour. The dominant allele
gives purple flowers and the recessive allele red flowers.
A second gene, B/b, controls the shape of the pollen grains. The dominant
allele gives elongated grains and the recessive allele spherical grains.
A plant with the genotype AaBb was test crossed by interbreeding it with a
plant with red flowers and spherical pollen grains.
Copy and complete the table to show the expected ratio of phenotypes of the
offspring of this cross. The gametes from one parent are already in the table.

Gametes of the other parent

genotype:
AB
phenotype:
genotype:
Ab
Gametes phenotype:
of one genotype:
parent aB
phenotype:
genotype:
ab
phenotype:

[5]
[Total: 9]

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CONTINUED
2 a The fruit fly, Drosophila melanogaster, feeds on sugars found in damaged fruits.
A fly with normal features is called a wild type. It has a grey striped body and
its wings are longer than its abdomen. Some flies have an ebony-coloured body
or vestigial wings. These three types of fly are shown in the diagrams.

wild type ebony body vestigial wing

Wild-type features are coded for by dominant alleles: A for wild-type body
and B for wild-type wings.
Explain what is meant by the terms allele and dominant. [2]
b Two wild-type fruit flies were crossed. These were heterozygous at both
gene loci.
Draw a genetic diagram to show the possible offspring of this cross. [6]
c When the two heterozygous flies in b were crossed, 384 eggs hatched and
developed into adult flies. A chi-squared (χ2) test was carried out to test the
significance of the differences between observed and expected results:
2

χ 2
=∑
(O − E)
E
where: Σ = sum of
O = observed value
E = expected value.
i Copy and complete the table.

Phenotypes of Drosophila melanogaster

grey body grey body ebony body ebony body
long wing vestigial wing long wing vestigial wing
Observed 207 79 68 30
number (O)
Expected ratio 9 3 3 1
Expected 216 72 72 24
number (E)
O–E –9 –4 6
(O – E)2 81 16 36
(O – E)2 / E 0.38 0.22 1.50
[3]

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CONTINUED
ii Calculate the value for χ2. [1]
The table below relates χ values to probability values.
2

As four classes of data were counted, the number of degrees of freedom

was 4 – 1 = 3. The table gives values of χ2 where there are three degrees of
freedom.

Probability 0.50 0.20 0.10 0.05 0.01 0.001

greater than
Values for χ2 2.37 4.64 6.25 7.82 11.34 16.27

iii Using your value for χ2 and the table above, explain whether or not the
observed results were significantly different from the expected results. [2]
[Total: 14]
Cambridge International AS & A Level Biology (9700/41), Question 7,
October/November 2009
3 Feather colour in budgerigars is affected by many different genes. One of these
genes is G/g, which determines whether the feathers are green or blue. Allele G
is dominant and gives green feathers, and allele g gives blue feathers.
A second gene, on a different chromosome, affects the intensity of the
colouring. It has two codominant alleles. CP produces a pale colour and CD
gives a dark colour.
The table shows the six colours produced by various combinations of the alleles
of these two genes.

Intensity of colour
Colour
pale medium dark
green light green dark green olive green
blue sky blue cobalt blue mauve
a State the genotype of:
i a dark green bird that is homozygous at the G/g locus [1]
ii a sky blue bird [1]
b Construct a genetic diagram to show the possible offspring produced from a
cross between the dark green bird in a i
and a cobalt blue bird. [5]
[Total: 7]
4 a With reference to the control of expression of the gene for β-galactosidase
in Escherichia coli, explain the meaning of each of the following terms.
i operon [2]
ii structural gene [1]
iii inducible enzyme [1]

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CONTINUED
b Explain how the presence of lactose in the environment causes the synthesis
of β-galactosidase. [5]
c Explain why it is advantageous to the bacterium to secrete β-galactosidase
only when lactose is present. [2]
[Total: 11]
5 Thyroid hormones have various functions in the body, including increasing
metabolic rate, stimulating growth in young people and increasing the ability of
heart muscle to contract. Thyroid hormones are small molecules, based on the
amino acid tyrosine, that enter their target cells through carrier proteins.
a Explain why thyroid hormones enter cells through carrier proteins, rather
than diffusing through the lipid bilayer. [2]
b Thyroid hormones move into the nucleus of the target cell, where they
bind to a receptor. These hormone receptors are normally already bound
to DNA, close to a particular gene, where they inhibit its transcription.
When the hormone binds to the receptor, transcription of the gene
is stimulated.
i State the name for a molecule, such as the thyroid hormone receptor,
which affects the transcription of a gene. [1]
ii One gene whose transcription is affected by thyroid hormones codes
for the synthesis of myosin.
Suggest how the effect of thyroid hormones on the myosin gene could
affect cardiac muscle. [3]
c The gene THBR codes for one type of thyroid hormone receptor. Its locus
is on chromosome 3. Some people have a faulty allele of this gene on one
of their chromosome 3s. They have a condition called thyroid resistance, in
which thyroid hormones are produced normally but do not have their usual
effects on target cells.
i Use the information to determine whether the faulty allele is dominant
or recessive. Explain your answer. [1]
ii Explain how the faulty allele can result in a lack of ability of cells to
respond to thyroid hormones. [3]
[Total: 10]

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SELF-EVALUATION CHECKLIST
After studying this chapter, complete a table like this:

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describe the process of meiosis, and explain its 16.1, 16.2
significance in terms of maintaining chromosome
number in sexual reproduction and producing
genetically different offspring
describe and explain how different alleles of 16.2, 16.3
genes affect phenotype
construct and interpret genetic diagrams showing 16.4
monohybrid crosses, including the involvement of
dominant, recessive and codominant alleles and
sex linkage
construct and interpret genetic diagrams showing 16.5
dihybrid crosses, including the involvement of
dominant, recessive and codominant alleles,
autosomal linkage and epistasis
use the chi-squared test to determine the 16.6
significance of differences between observed
and expected results in genetic crosses
explain the relationship between genes, proteins 16.7
and phenotype, using the genes TYR, HBB, F8
and HTT as examples
explain how the alleles Le and le control 16.7
gibberellin production and hence stem elongation
use the lac operon to explain how gene expression 16.8
is controlled in prokaryotes
describe how transcription factors are involved 16.8
in the control of gene expression in eukaryotes,
including the role of gibberellin and DELLA
protein repressors in plants

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