1

Purpose
In this topic you will learn about the two main types of variation within a
population. You will also find out how this variation can come about. You will
study chromosomes and the way gametes are formed in greater detail.
1 Variation
Mendel’s work
Gregor Mendel (1822–1884) was a monk, the Abbot of Brno (in what is
now the Czech Republic), who had studied natural history and mathematics
at Vienna University. He became interested in the process of hybridisation
(cross breeding) in plants and over the years 1856 to 1866 performed
breeding experiments on pea plants, statistically analysing the frequencies at
which different hybrid offspring appeared. Mendel’s results and conclusions
(Mendel’s laws of inheritance) were published in 1866. Mendel’s work was
important because he explained how heredity works and also developed a
correct method of experimentation.
Mendel’s success was due to the fact that he rigorously applied a proper
scientific method which can be taken as a model of how to carry out a
scientific investigation. This can be summarised as follows:
G Preliminary investigations were carried out to obtain familiarity with the
test organism (pea plants).
G Every experiment was carefully planned so that only one variable at a
time was tested. This simplified the observations to be made.
G Great care was taken in carrying out all techniques, so preventing the
introduction of contaminating variables (‘foreign’ pollen, cross-
pollination when self-pollination was required).
G Accurate records were kept of all the experiments and the results
obtained.
G Enough data was obtained to have statistical significance.
Mendel stated ‘the value and usefulness of any experiment are determined
by the fitness of the material to the purpose for which it is used’. Mendel
was lucky in choosing peas because they showed basic inheritance patterns
with characters appearing in contrasting pairs, and were naturally self-
pollinating which had resulted in pure-breeding strains of plant developing.
If he had chosen an experimental plant with the basic inheritance patterns
obscured by more complex genetic mechanisms, his chances of success
would have been much reduced.
You will learn some details of Mendelian inheritance in Topic 2 of this unit.
T OP I C
Variation and
chromosomes
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Although Mendel’s work was published in 1866 it was not given real credit
until 1900. There were several reasons for this. The work was published in
the journal of a small local natural history society and so relatively few
scientists became aware of them. Those scientists who did read his paper were
unprepared for such a radical new view of heredity and so paid little heed to
his work. It was only in 1900, when the details of cell division (mitosis and
meiosis) were worked out that the true significance and correctness of
Mendel’s work was realised. Mitosis and meiosis provided the mechanisms
inside cells by which Mendelian inheritance worked.
Pea plants generally show characteristics in contrasting pairs: for instance,
one variety may have round peas and another variety may have wrinkled
peas. You may like to go to your local garden centre and see how many
different varieties of peas they are selling. As a long-term project you could
grow some different varieties of pea plant and make measurements and
observations on, for instance, height after a standard time, the shape and
appearance of the pods, peas and cotyledons, and whether the flowers are
axial or terminal. If you can’t grow the plants yourself you might be able to
go to a local market garden to make your observations. You should be able to
find at least seven contrasting characteristics.
You only need to look at a random group of people to see that there is
variation between them: everybody is different. The same is true for any
organisms in a population. They are not all identical. The variation in some
characteristics is very clear-cut. For example, you belong to one of four blood
groups of the ABO system. This never changes and everybody can be put into
one of these groups. This type of variation, where each characteristic is either
present or absent with no intermediates, is known as discontinuous variation.
Other features are not so clear-cut: for example, height. There are not only
decidedly tall people and decidedly short people, there are also people of
many intermediate heights. This type of variation is known as continuous
variation.
Continuous variation is usually partly determined by environmental factors.
For example, a person’s mass will depend greatly on the food they eat and the
exercise that they take. Discontinuous variation is entirely dependent on the
genetic make-up of a person, that is to say, the information present in the
chromosomes in each cell. ABO blood groups are determined by just one
gene, one portion of one chromosome.
Activity 1
Consider the following human characteristics. Do they have continuous or discontinuous
variation?
Hair colour, foot length, blood group, mass (weight).
Answer at end of topic
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Revision note:
The historic account of Mendel’s experiments is for interest only and knowledge of the specific
details of the experiments is not an exam requirement.
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2 Chromosomes and genes
Chromosomes are found in the nuclei of all cells. They can sometimes just be
seen under a microscope where they look like long threads. They are made of
a complex chemical called deoxyribonucleic acid or DNA (it’s enough to
know the initials!). DNA is the chemical that determines which other
chemicals are to be made in each cell – it is the chemical that controls every
cell. It does this by containing coded information that controls the order in
which amino acids are assembled to produce particular proteins. This means
that DNA determines which enzymes are made in a cell (enzymes are
proteins). Since enzymes catalyse reactions that would otherwise not occur,
the type of enzymes in a cell determines what will happen in that particular
cell. A short length of DNA that controls just one characteristic (or part of a
characteristic) is called a gene.
Every organism contains chromosomes that control the way it will develop.
The number of chromosomes present in the nucleus of every cell (apart from
the gametes) is always the same for that particular organism. Human cells
contain 46 chromosomes in 23 pairs. Mouse cells have 40 (in 20 pairs), fruit
fly cells have 8 (in 4 pairs), hen cells have 18 pairs, pea cells have 14 (in 7
pairs). Every pair of chromosomes is different from every other pair in that it
will contain different genes.
The total number in each cell is called the diploid number and it is made up
of two sets of similar chromosomes.
The 46 chromosomes in one human cell are identical to the 46 chromosomes
in nearly every other cell in that person’s body. In other words all the cells
carry exactly the same genes – the same genetic material.
3 Mitosis
Look back to Unit 2, Topic 1 and remind yourself of the structure of a cell.
Every cell has a nucleus, and it is this that controls the cell. In the nucleus is
the chemical DNA (deoxyribonucleic acid). This is present in long coiled
threads called chromosomes, which are present in identical pairs. It is this
chemical that contains all the information that determines how a cell develops
and functions. Every cell in an organism contains exactly the same
information even though it doesn’t use it all. Small sections of a chromosome
are called genes – you will learn more about this in later topics.
When a cell divides it is important that each new cell has exactly the same
information as the original cell. Mitosis is the name given to cell division that
occurs during growth, repair, cloning and asexual reproduction. During
Activity 2
What do you notice about the number of chromosomes in each case?
Answer at end of topic
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mitosis, the DNA duplicates itself so that each new cell ends up with identical
chromosomes. As we have noted, each cell in a human being has 23 pairs of
chromosomes (each species has its own special set of chromosomes).
Study diagrams A to F below which show the stages of mitosis in an animal
cell with four chromosomes (two pairs).
A B
C D
E F
cell membrane
nuclear membrane
around four
chromosomes
chromosomes divide (replicate)
except in their centres
chromosomes complete division at their
centres and move to 'poles' of the cell
nuclear membrane
breaks down and
chromosomes
move to the
'equator' of the
cell
nuclear membranes
form around two
new nuclei, each
containing four
chromosomes
(same as original
cell)
cytoplasm
divides by
constriction
forming two
new cells (in plant
cells a new cell wall is made)
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4 Meiosis
Genetics is the study of genes. It is often concerned with heredity, the passing
on or inheritance of a characteristic from parent to offspring. If you look
back to Unit 11, you will remember that gametes are different from other
cells. They only contain one set of chromosomes – half the number of any
other cell. A human sperm or egg for example will each contain only 23
chromosomes. This is the haploid number. Meiosis is the name given to the
special way in which diploid cells divide to produce haploid cells. At the start
of meiosis a copy of each chromosome is made and then the cell divides twice
to form four gametes. Each gamete will then contain just one of each type of
chromosome. Meiosis occurs only in the sex organs.
5 Meiosis and variation
For every characteristic, an individual has a pair of genes, one of the pair
inherited from the mother and one from the father. There may be two or
more alternative forms of each gene. These alternative forms are called alleles.
Although every new human gamete ends up with 23 chromosomes (sets of
genes), it is sheer chance that determines which one of every pair goes into
each new cell. This means that each gamete may contain a different
combination of alleles.
Meiosis therefore produces variation. Since chance then determines which
sperm fertilises a particular egg, even more variations will occur at
fertilisation.
The combination of meiosis and fertilisation ensure that sexual reproduction
gives rise to different individuals in each generation.
Study the following diagrams which illustrate the process of meiosis.
Activity 4
If each gamete contains only half the usual number of chromosomes, how is it that the cells of
the new organism contain twice that number?
Answer at end of topic
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Activity 3
What is the haploid number of a pea plant? Or, to put it another way, how many chromosomes
will there be in a pollen grain from a pea flower?
Answer at end of topic
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Diagrams of meiosis
A B
C D
E F
4 chromosomes
(2 pairs)
nuclear
membrane
nuclear membrane
breaks down and
chromosomes
line up on
‘equator’
nuclear membranes
reform making two
‘daughter nuclei’
homologous
chromosomes
pair together
and divide
except at their
centromeres
(centres)
one of each
chromosome
pair moves to
each pole
cytoplasm divides
forming two new cells
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Diagrams of meiosis (continued)
At stages D and H it is purely random to which pole a chromosome of each
pair goes.
This gives rise to genetic variation between the gametes.
(If you were doubtful about some of the terms used with these diagrams,
check back to mitosis which was described in Unit 8, Topic 1.)
G H
I J
nuclear membranes
break down and
chromosomes
align on
‘equators’
chromosomes complete
division and one set
goes to each ‘pole’
nuclear membranes form
round each ‘daughter’ nucleus
cytoplasm divides forming four gametes
each with half the chromosome number
of the original cell
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6 Inheritance
You have just seen how genes of a pair, controlling a characteristic, are
inherited one from each parent. You have also seen how genes may be in
alternative forms (alleles), so that each allele carries a different genetic
message for the characteristic from the other allele of the pair. We will look at
one characteristic, tongue rolling.
Can you roll your tongue? Stick out your tongue and try to roll up the sides
keeping the tip pointing forwards. You can either manage it or not – it
depends on the genes for this characteristic that you inherited from your
parents.
There are two alternative forms of gene (alleles) for this characteristic: tongue
roller (R) and non-tongue roller (r); the letters are just convenient symbols.
These two alleles are equally likely to be present or absent. Possible
combinations of these two alleles, one inherited from each parent, are:
RR, Rr or rR, rr
We know that R represents the ability to tongue roll and it is present in three
of the combinations. It is absent in only one. This suggests that whenever R is
present the person is a tongue roller even if they have an r allele. In other
words the R masks the effect of the r. R is known as the dominant allele, and
r is the recessive allele. It is convention to use a capital letter for the dominant
allele symbol and the same letter in lower case for the recessive allele. The
next diagram shows the possible outcomes of a cross (breeding) between a
roller and a non-roller.
phenotype: the characteristic you are looking at
genotype: the combination of alleles in the organism
You can see that in this case, there is a 1:1 ratio – half the children are
expected to be tongue rollers and half are expected to be non-rollers.
parental phenotypes roller non-roller
parental genotypes
offspring genotypes Rr rr
offspring phenotypes roller non-roller
ratio 1 : 1
meiosis occurs
fertilisation occurs
gametes R and r all r
Rr rr
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Genetic diagrams may be set out differently from this. The genotypes of the
offspring can be worked out using a square or diamond instead of just lines,
like looking up coordinates on a map.
Review
You have learnt a lot in this topic! Do persevere with your genetic diagrams;
they’re not too difficult once you’ve got the idea! Consult your tutor if you
are unsure of the answers to the self-check questions in the topics.
Answers to activities
Activity 1
The answers, in the same order, are: continuous, continuous, discontinuous, continuous.
Activity 2
They are always in pairs.
Activity 3
There are seven pairs of chromosomes in a diploid (normal) pea cell (see above), but only
seven individual chromosomes in each gamete.
Activity 4
At fertilisation the nucleus of the haploid male gamete fuses with the nucleus of the haploid
female gamete to give a diploid zygote. That is, each gamete has contributed one set of
chromosomes to make a zygote that has a pair of each type of chromosome. The new
individual is then formed by repeated mitosis so every new cell contains the same information
as the original zygote. Every cell in the human body (apart from the gametes) contains 23
chromosomes with genetic information from the mother and 23 chromosomes with genetic
information from the father.
Self-check
1 Distinguish between discontinuous and continuous variation.
2 Distinguish diploid from haploid chromosome numbers.
3 How does meiosis differ from mitosis?
4 Mendel applied a rigorous scientific method to his work which accounted for his success.
Summarise Mendel’s scientific method.
5 In Hereford cattle, red face (R) is dominant to white face (r). Do a genetic diagram to show
the possible offspring and expected ratio of phenotypes if a white faced cow was crossed with
a red face bull of genotype Rr.
Activity 5
Try to work out a similar diagram for each of the following couples and work out the ratio of
tongue rollers to non-rollers that they could produce. Note down these ratios and check them in
the next topic.
RR × rr; Rr × Rr; rr × rr; RR × RR.
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Self-check answers
1 Discontinuous variation is when characteristics fall into two or more distinct groups with no
intermediates between them, for example, tall and short peas; continuous variation is when
characteristics show a continual gradation of form, from one limit to another, for example,
human height.
2 Haploid refers to the presence of one set of chromosomes only, as found in gametes/they
only contain one of each chromosome; diploid refers to body cells which have two sets of
chromosomes/every nucleus will contain a pair of each chromosome.
3 Mitosis is used in growth, meiosis is used to produce gametes; mitosis keeps the same
chromosome number in the ‘daughter’ cells, meiosis reduces the chromosome number
to haploid; mitosis keeps the same genetic information in the ‘daughter’ cells, meiosis
introduces genetic variation.
4 Preliminary investigations were carried out to obtain familiarity with the test organism (pea
plants); every experiment was carefully planned so that only one variable at a time was tested;
this simplified the observations to be made; great care was taken in carrying out
all techniques, so preventing the introduction of contaminating variables (‘foreign’ pollen,
cross-pollination when self-pollination was required); accurate records were kept of all
the experiments and the results obtained; enough data was obtained to have statistical
significance.
5 parents phenotype: white face × red faced
parents genotype: rr Rr
gametes: r r R r
offspring genotype Rr Rr rr rr
offspring phenotype red red white white
ratio 2 : 2 which is expressed as 1 : 1
It is important that you lay out genetic diagrams clearly and completely in the examination,
otherwise the examiners may not be able to award you marks.
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