Variation and Inheritance

National 5
Learning Outcomes
• Give examples of variation within species
• Describe how sexual reproduction maintains variation
• Explain the difference between discrete and continuous
variation
• Explain the difference between single gene traits and
polygenic traits and give examples of each
• Identify examples of dominant and recessive traits
• Explain what is meant by the term “phenotype”
• Give examples of different type phenotypes of a
characteristic
• Explain what is meant by the term “genotype”
• Assign a genotype to an individual
• Explain what is meant by the terms “homozygous” and
“heterozygous”
• Use Punnett squares to predict the inheritance of genes
 Species
• Definition –
• Group of organisms that are able to
– interbreed
– produce fertile offspring

Differences between organisms of the

same species is variation.
 Variation in A Species
List the features which differ within these dog breeds.
Types of Variation
Some variation is CONTINUOUS.
• can have any one of a large range of values.
• wide range from one extreme to the other
• e.g. height.
This type of variation can be represented as a
line graph or histogram
 Types of Variation
Some variation is discrete.
• can only have one of a fixed number of
options
• there are distinct differences
• e.g. eye colour
This type of variation can be represented as a
bar graph Discrete variation
Continuous and Discrete Variation
Fill in the table to Feature Variation
indicate whether the
Eye colour
variation is
continuous or Weight
discrete.
Shoe size
Height
Skin
colour
Tongue
rolling
 Family resemblance
Members of the same
family often look
similar.
Which parent do these
children look more
like?
If the son and daughter
each have children of
their own one day, will
they also look like their
parents?
Why do members of the same family often look
similar?
Humans, like all organisms, inherit characteristics
from their parents. How are characteristics passed
on?
 Genetic material
When cells divide, it is essential that genes are copied into
new cells. This ensures that new cell has a complete set
of information.
Genes are the basic unit of inheritance and are
responsible for characteristics of an organism.
Genes are located on chromosomes, each of which is made
from a very long, tightly coiled molecule of DNA.
 Different versions of genes
Chromosomes in a homologous pair contain the same
type of genes that code for the same characteristics,
such as eye colour.
Each chromosome in the pair,
however, may have a different
version of the gene. allele for allele for
brown blue
For example, the version of eyes eyes
a gene on one chromosome may
code for brown eyes, whereas the
version of the gene on the other
chromosome may code for blue
eyes.
Each different version of a gene is called an allele.
 Genotype and Phenotype
• Definition –
• Genotype – combination of alleles
organism has for particular characteristic
• - usually written as letters

• Phenotype – the physical appearance of

these characteristics
 Homozygous alleles
If the alleles for a characteristic in a homologous pair are the same, the
organism is said to be homozygous for that characteristic.

What colour eyes will these homozygous pairs of alleles produce?

allele for allele for allele for allele for

brown eyes brown eyes blue eyes blue eyes
 Heterozygous alleles
If the alleles for a characteristic in a homologous pair are different, the
organism is said to be heterozygous for that characteristic.

What colour eyes will this heterozygous pair of alleles produce?

?
allele for allele for The characteristic shown in the
brown eyes blue eyes individual who has heterozygous
alleles will depend on which allele is
dominant and which allele is
recessive.
 Dominant or recessive?

The phenotype for a particular characteristic depends on which allele is

dominant and which allele is recessive.

 Dominant alleles are always expressed in a cell’s

phenotype. Only one copy of the dominant allele needs
to be inherited in order for it to be expressed.
Dominant alleles (e.g. brown eyes) are represented by
an upper case letter (e.g. ‘B’).

 Recessive alleles are only expressed in a cell’s

phenotype if two copies of it are present. If only
one copy is present, its effect is ‘masked’ by the
dominant allele. Recessive alleles (e.g. blue eyes)
are represented by a lower case letter (e.g. ‘b’).
 What eye colour?
The allele for brown eyes is dominant over the allele for blue eyes.

So, what colour will the eyes be of an individual who is

heterozygous for eye colour?

allele for allele for

brown eyes blue eyes
The individual will have brown
eyes, because the allele for
brown eyes masks the allele for
blue eyes.
Inheritance terms
Homozygous cross
Heterozygous cross
The life and work of Gregor Mendel
 Mendel’s experiments
Over seven years, Mendel experimented on more than 28,000
pea plants! Why were his experiments so successful?

 Pea plants grow quickly.

 Pea plants are available

in pure-breeding
(homozygous) strains.

 Many pea plant characteristics show discontinuous

variation; they are either one form or another, with
no intermediates. This means that their phenotypes
are easily distinguishable.
Mendel’s early experiments
 Monohybrid crosses
The type of experiment that Mendel carried out, investigating just a single
characteristic, is called a monohybrid cross.

There are two alleles controlling pea shape. This means there are three
possible genotypes that the F2 generation of plants could inherit, leading to
two possible phenotypes.

Genotype Phenotype

homozygous dominant SS smooth

homozygous recessive ww wrinkly

heterozygous Sw smooth

The likelihood of a trait being produced during a monohybrid cross can be

mapped out using a Punnett Square.
What are Punnett Squares?
 Mendel’s laws of inheritance

After his research, Mendel proposed two laws of

inheritance.
Mendel’s first law: the law of segregation
 Alternate versions of genes (alleles) cause
variation in inherited characteristics.

 An organism inherits two alleles for each

characteristic – one from each parent.

 Dominant alleles will always mask recessive alleles.

 The two alleles for each characteristic
separate during gamete production.

Mendel’s second law: the law of independent assortment

 Genes for different characteristics are
sorted independently during gamete
production.
 Finding the Genotype

For some characteristics, the genotype of a homozygous recessive individual can

be determined from their phenotype.

For example, the allele for brown fur (B) in mice is dominant over the allele for white
fur (w ). This means that all white mice must therefore have the genotype .

But what about individuals that have brown fur?

Is their genotype BB or Bb?

A test cross can be used to determine whether an

individual is homozygous or heterozygous for a dominant
trait.
 What is a test cross?

During a test cross, an individual with an unknown genotype

is crossed with a homozygous recessive individual. The
phenotype of the offspring will reveal the unknown
genotype.
 If all the offspring display the dominant phenotype,
then the parent of unknown genotype must be
homozygous for the characteristic.

 If half the offspring show

the dominant phenotype,
and half show the
recessive phenotype, then
the parent must be
heterozygous for the
characteristic.
Using test crosses to find genotype
 Family Tree
Example 1
Family trees can be used to show characteristics over generations

This family tree shows inheritance of eye colour.

Brown eyes is dominant to blue eyes.
 Answers
• Phenotype of person 2 – blue eyed
• Phenotype of person 3 – brown eyed
• Genotype of person 1 -Bb
• Genotype of person 4 – Bb
• Person 7 likely to be homozygous dominant because
all the offspring show dominant characteristic
Genotype of person 8 – bb
Genotype of person 9 not certain because
they have dominant phenotypes but both parents must be
heterozygous as they have blue eyed child
Family Tree
Example 2
Family Tree
Example 2
 Glossary
 allele – One version of a gene, found at a specific location
along a chromosome.
 dominant – An allele that is always expressed, even
if the cell only contains one copy.
 gene – The unit of inheritance.
 genotype – The full set of genes of an organism.
 heterozygous – Having two different alleles of a specific
gene.
 homologous chromosomes – A matched pair of
chromosomes that carry genes for the same characteristics.
 homozygous – Having two identical alleles of a specific
gene.
 monohybrid cross – A cross in which one pair of
characteristics is studied.
 Glossary
 phenotype – All the observable characteristics of an
organism.
 recessive – An allele that is only expressed if two
versions of it are present in a cell.
 variation – The difference between individuals within
a population.
Anagrams
Multiple-choice quiz
 Term Description
F1 The first generation of offspring of a particular cross

F2 The “grandchildren” of a particular pair of individuals

F This stands for filial – literal translation means “son

of a daughter”

Homozygous The organism has two identical versions of the same

allele. This organism is said to be true-breeding

Heterozygous The organism has two different versions of the allele.

This organism is not true breeding

Polygenic A characteristic showing continuous variation which is

controlled by the alleles of more than one gene
 Term Description
Allele A form of gene occurring at the same position
on each of a pair of homologous chromosomes
Phenotype The appearance or features of an organism, usually the
effect of the genotype plus the effect of the
environment
Genotype The genetic make up of an organism. Different
combinations of alleles produce different genotypes

Pure(true) A group of individuals which is homozygous for the gene

breeding studied.

Dominant A form of a characteristic which masks another form.

Often used to describe an allele

Recessive A form of a characteristic which is masked by another

(dominant) form. Often used to describe an allele

P Generation The parents in a particular cross