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National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 1 of 22 Duncanrig Secondary School 2017
Multicellular Organisms
Sub Topic 2.4 Variation and Inheritance
On completion of this sub topic I will be able to state that:
Variations are differences that exist between members of a species or different
species.
Genes are short sections of DNA that code for proteins by specifying the order
in which amino acids must be joined together.
Combining genes from separate parents contributes to variation within a
species.
Alleles are different forms of a gene.
Discrete variation (single gene inheritance) is shown in characteristics which can
be grouped into categories.
Discrete variation (single gene inheritance) is found in characteristics that are
coded for by a single gene with a limited number of alleles.
Continuous variation (polygenic inheritance) is found in characteristics which
show a continuous range of possibilities between a minimum and a maximum
value.
Continuous variation occurs because several different genes influence the same
characteristic. Such characteristics are said to be polygenic.
State examples of characteristics which can be described as discrete or
continuous variation.
Phenotype is the physical appearance of an organism for a particular
characteristic.
Genotype is the term given to describe the alleles that an organism possesses
for a particular characteristic.
When two different alleles for a particular characteristic are present the
dominant allele will show its effect in the phenotype of an organism.
When two different alleles for a particular characteristic are present the
recessive allele will be masked and will not show its effect in the phenotype.
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 2 of 22 Duncanrig Secondary School 2017
When an organism has two alleles the same for a particular characteristic the
organism is said to be homozygous for that characteristic.
When an organism has two alleles which are different for a particular
characteristic the organism is said to be heterozygous for that characteristic.
Identify the P (parental), F1 (first filial) and F2 (second filial) generations in a
monohybrid cross.
Understand that the phenotypes of the F1 produced from a homozygous cross
are all uniform (the same).
Predict the proportions of the phenotypes of the F2 offspring produced in a
monohybrid cross.
Explain a monohybrid crosses in terms of the genotypes produced.
State that the reason why the predicted ratios in a monohybrid cross are not
always observed is due to the random process of fertilisation and that sample
sizes in the observed crosses may be too small.
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 3 of 22 Duncanrig Secondary School 2017
Discrete variation
Fingerprint
Ear lobe shape
Tongue rolling
(roller / non roller)
Blood group
Eye colour
Variation
Members of a species can interbreed and produce fertile young. Individuals in a
species are not all identical, but show slight differences. The differences that occur
within a population (a group of organisms of the same species) are called variation.
These genetic variations occur because the fusion of gametes, which takes place
during fertilisation, is a random process.
There are two types of variation: continuous and discrete.
Discrete Variation (single gene inheritance)
Discrete variation describes a characteristic that can be separated into distinct
categories or groups. Examples of discrete variation include eye colour, fingerprints,
blood groups, ability or inability to tongue roll, attached or detached ear-lobes.
Discrete variation is found in characteristics that are coded for by a single gene with
a limited number of alleles.
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 4 of 22 Duncanrig Secondary School 2017
Continuous variation
Height Tail length in mice
Shell diameter
Discrete variation can be shown by a bar graph.
Continuous Variation (polygenic inheritance)
Continuous variation is found in characteristics which show a continuous range of
possibilities between a minimum and a maximum value.
Continuous variation occurs because several different genes influence the same
characteristic. Such characteristics are said to be polygenic.
Examples of continuous variation include height, hand span, tail length in mice,
diameter of a shell, length of a leaf
Nu
mb
er
of
Pe
op
le
Blood Group
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 5 of 22 Duncanrig Secondary School 2017
Continuous variation can be shown by a bell-shaped curve on a line graph or
histogram.
Key Question:
Complete the table by adding examples of continuous and discrete variation. Try to
add as many as you can including any that are not mentioned in your notes.
Discrete Variation Continuous Variation
Nu
mb
er
of
Pe
op
le
Height (cm)
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 6 of 22 Duncanrig Secondary School 2017
Pick one of the examples that you have listed above to survey the class.
Class survey title: _____________________________________
Show your results in a table with the appropriate headings.
Once you have completed the survey, use your results to construct a graph.
* Remember: discrete variation should be drawn as a bar graph and
continuous variation should be drawn as a line graph or histogram.
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 7 of 22 Duncanrig Secondary School 2017
Genetics
When organisms reproduce, genetic information is passed from parents to offspring on
the chromosomes in the gametes (sex cells).
The way in which inherited characteristics are passed on from parents follows a
pattern. The study of this pattern of inheritance is called genetics.
Genes
The units of inheritance are called genes which make up chromosomes. Each
chromosome consists of about ten thousand genes.
An individual has two sets of genes in each cell, one set inherited from the mother
and one set inherited from the father. Therefore, chromosomes can be arranged into
pairs. The two chromosomes of each pair are identical in shape, size and type of
genes.
There can be more than one form (types) of any one gene. Different forms of a gene
are known as alleles. For any given characteristic, an individual can carry the same
two alleles or two different alleles. These alleles are usually abbreviated using letters
for shorthand.
For example: Eye colour is an inherited characteristic in humans. If the gene for
brown eyes is represented using a B and the gene for blue eyes is represented using a
b, then a person can have two brown alleles (BB), two blue alleles (bb), or can have
one brown allele and one blue allele (Bb).
Dominant and Recessive Alleles
Where an individual carries two different forms of a gene for a particular characteristic,
very often one version will be stronger than the other. The stronger version of the
gene is said to be dominant and the weaker one is recessive. The recessive allele
will be masked by the dominant allele and won’t show in the phenotype of the
organism.
Capital letters are used for dominant alleles and lower case for recessive alleles.
For example: the allele for brown eyes (B) is dominant to the allele for blue eyes
(b). Therefore a person with both alleles (Bb) will have brown eyes.
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 8 of 22 Duncanrig Secondary School 2017
Phenotype and Genotype
The physical appearance of an organism is referred to as its phenotype. For
example eye and hair colour in animals or leaf shape and petal colour in plants. Most
physical characteristics have more than one phenotype.
Complete the table by adding the possible phenotypes for each of the characteristics.
Physical Characteristic Phenotypes
eye colour
blood group
flower colour
The genes an organism has for a particular characteristic is known as its genotype.
In eye colour for example, there are three possible genotypes for brown or blue; BB,
Bb and bb. It is not always possible to identify the genotype of an individual with a
dominant characteristic as they could have the recessive allele which would be
masked.
If both alleles are the same as each other, the individual is said to be homozygous
(BB or bb).
If the alleles are different from each other, the individual is said to be heterozygous
(Bb).
Using the example of eye colour, complete the following table.
Genotype Homozygous or
heterozygous? Phenotype
BB homozygous
Bb brown eyes
bb
It is therefore possible for organisms to have a different genotype but the same
phenotype.
The dominant allele will always show up in the phenotype of an organism, even when
the organism is heterozygous. This is demonstrated in the angelfish example on the
following page.
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 9 of 22 Duncanrig Secondary School 2017
Inheritance of colour in angelfish:
Homozygous black angelfish X Homozygous gold angelfish
Parents
First generation
(the offspring)
Key Question:
The diagram below shows the same sections of matching chromosomes found in four
fruit flies A, B, C and D. The genes are for body type and antennae type.
The genes shown on the chromosomes can be identified using the following key:
Which fly is homozygous for both characteristics?
Fly D Fly C
Fly B Fly A
Form of gene for abnormal antennae
Form of gene for normal antennae
Form of gene for unstriped body
Form of gene for striped body Key
All the baby angelfish in are black,
therefore black must be dominant.
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 10 of 22 Duncanrig Secondary School 2017
Monohybrid Cross
Genetic crosses involving only one characteristic are called monohybrid crosses.
The parents in these crosses will usually have different phenotypes and are
homozygous for that characteristic, such as the angelfish described on the
previous page. Inheritance of colour in angelfish is controlled by a gene that exists in
two forms; black which is dominant to gold.
When studying genetics, shorthand symbols are used:-
The original generation (the parents): P
The first generation: F1
The second generation: F2
Using B to represent the black allele and b to represent the gold allele, the
monohybrid cross is shown.
P phenotypes: homozygous black X homozygous gold
genotypes: BB
bb
gametes: all B
all b
F1 phenotypes: all black
genotypes: Bb
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 11 of 22 Duncanrig Secondary School 2017
Heterozygous Monohybrid Cross
When two heterozygous organisms are crossed, the expected ratio of offspring can be
predicted using a Punnett square. Using inheritance of colour in angelfish, complete
the monohybrid cross below where two of the F1 offspring are self crossed.
Three quarters of the angelfish in the F2 generation have the same phenotype, they
all appear black; BB, Bb and Bb. However, these black angelfish do not have the same
genotype.
F1 phenotypes: black X black
genotypes: _____________
_____________
gametes: _____________
_____________
Punnett square
F2 phenotypes: __________________________________
genotypes: __________________________________
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 12 of 22 Duncanrig Secondary School 2017
Backcross
When an organism shows a dominant phenotype, it is not obvious whether its
genotype is homozygous or heterozygous for that characteristic. The identity of an
unknown genotype can be found by carrying out a backcross with a homozygous
recessive organism.
The outcome of the cross is used to tell whether the individual is homozygous or
heterozygous. Your teacher will help you complete the cross using inheritance of
colour in angelfish.
Backcross 1: Backcross 2:
phenotype: black X gold black X gold
genotype: BB _______ Bb _______
gametes: _______ _______ _______ _______
Punnett squares:
Results: All the offspring have the
______genotype and are
_______________ in colour.
All black offspring indicates
the genotype of the parent
must be ____ .
Half the offspring have the
genotype _____ and are
____________ in colour. Half
have the ______ genotype and
are _____________ in colour.
A ratio of 1 black : 1 gold
angelfish indicates the
genotype of the parent must
be ____ .
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
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Ratios
A cross between BB (homozygous dominant) and bb (homozygous recessive)
will always give offspring which are all the same phenotype as the dominant parent.
A cross between Bb and Bb (heterozygous) will give the ratio of:
3 dominant : 1 recessive
In reality the actual or observed ratios of offspring in crosses do not match the
predicted ratios.
This can be for two reasons:
1) fertilisation is a random process.
2) the numbers of organisms in the cross are too small.
Complete the monohybrid crosses on the following pages using the worked
example of the angelfish as a guide to help you.
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 14 of 22 Duncanrig Secondary School 2017
Key Questions:
1) Homozygous pea plants were bred to produce two generations, as shown
below:
(a) Using the letter R for round seeds and r for wrinkled seeds, copy and
complete the following table.
The seeds from the F2 were counted and the results are shown in the bar chart.
(b) What is the simple whole number ratio of round to wrinkled seeds?
(Clue: the ratio should be written as ____ round : ____ wrinkled)
Plant Genotype
Parent with round seeds
All F1
F2 with wrinkled seeds
Wrinkled seeds
Number of seeds
80
70
60
50
40
30
20
10
0
Type of seed
Round seeds
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 15 of 22 Duncanrig Secondary School 2017
2) Sorghum is an important food crop in some parts of the world. The colour of
the seed husk (coat) is controlled by a single gene. Purple husk colour (H) is
dominant to tan husk colour (h).
(a) A homozygous purple husk plant is crossed with a homozygous tan husk plant.
(i) Copy and complete the genotypes of the parental (P) generation below
into your jotter:
P purple x tan
P genotypes ___________ ___________
(ii) State the phenotype (s) of the F1 plants.
(b) An individual from the F1 generation is crossed with a homozygous tan husk
plant.
(i) Copy and complete the Punnett square to show the expected results of
this cross.
(ii) State the expected ratio of purple to tan husk offspring of this cross.
Ratio = ____ purple : ____ tan
(iii) The actual results of this cross produced an observed ratio of
2 purple : 1 tan, explain one possible reason for the difference between the
expected and the observed ratio.
purple husk tan husk
Genotypes of gametes from F1 plant
Genotypes of gametes from tan husk plant
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 16 of 22 Duncanrig Secondary School 2017
3) (a) Fruit flies show variation in wing structure which can be inherited. Vestigial
wings are shorter in length than normal.
Flies were crossed as shown below.
(i) Using N for the normal form and n for the vestigial (short) form, give the
genotypes of each of the following:
1 Parent with normal wings
2 A fly from the F1 generation
3 An F2 fly with vestigial wings
(ii) Some of the normal wing flies in the F2 will be NN and some will be Nn,
what method could be used to determine the genotype of these flies?
(b) What term is used to describe the different forms of a gene?
P
F1
F2
X
homozygous normal winged male
homozygous vestigial winged female
all flies have normal wings
F1 flies were self-crossed
some flies have normal wings and
some have vestigial wings
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 17 of 22 Duncanrig Secondary School 2017
Family Trees
Unlike other organisms that have been described thus far (fruit flies, angelfish and
plants), humans do not breed to suit geneticists (scientists that study genetics). In
addition, humans produce too few offspring to allow reliable conclusions. However,
the same laws of genetics apply to humans and inheritance in humans can be traced
by constructing a family tree.
The family tree below shows the inheritance of PTU tasting.
The ability to taste a chemical called PTU is controlled by a single gene. People can either be tasters or non-tasters.
Family trees always include a key where a square () represents a male and a circle is
used to represent a female (O).
Use the information given to help you answer the questions on the following pages
that include a family tree.
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 18 of 22 Duncanrig Secondary School 2017
Key Questions:
1) Tay-Sachs disease is an inherited condition which affects the nerves. Different
forms of the same gene determine its effect.
T (dominant) represents the normal form of the gene.
t (recessive) represents the form of the gene which causes the disease.
The family tree diagram shows a pattern of inheritance of the disease.
(a) Copy and complete the table by writing the genotypes of persons A, D and K.
(b) A carrier of the disease is someone who does not show the symptoms of the
disease but can pass it to their offspring.
Give the letter of one person from the F2 generation who must be a carrier of the
disease.
(c) What type of variation is shown by Tay-Sachs disease? Explain your answer.
Person Genotype
A
D
K
= normal male
= normal female = affected female
= affected male
B
C
G J
A
D F
I
E
H K
P generation
F1 generation
F2 generation
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 19 of 22 Duncanrig Secondary School 2017
2) The family tree diagram shows how hair type is genetically inherited. Use the
diagram to answer the questions below.
In humans, the allele for wavy hair (H) is dominant to the allele for straight hair
(h).
(a) Copy the family tree into your jotter and add the missing genotypes beside the
phenotype for each member of the family. (It is not necessary to copy the
pictures).
(b) From whom did Wendy receive the genetic information that gave her straight
hair? Explain your answer.
grandfather grandmother grandmother grandfather
wavy: HH wavy: HH
wavy: ____ wavy: ____ wavy: ____ wavy: ____
wavy: HH wavy: Hh
straight: hh
straight: ____
straight: ____
aunt father mother uncle
brother sister Wendy
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 20 of 22 Duncanrig Secondary School 2017
3) The diagram below shows the two ways that hands can be clasped together.
The diagram below shows whether members of a family clasp their hands with the left
or right thumb on top.
T = the left thumb on top t = right thumb on top
(a) What information from parent B proves that left thumb on top is the dominant
form of the gene?
(b) Use the information from the diagram to copy and complete the following table.
(c) If person D has a child with a man with the same genotype, what is the %
chance of their first child clasping their hands with the left thumb on top?
(d) When 1000 people were surveyed, 625 were found to clasp their hands with the
left thumb on top. What is the simple whole number ratio of left to right thumb
people?
_______ left thumb : ______ right thumb
Person Genotype
C
E
F
right thumb on top left thumb on top
B
E C
A
D
F G
tt Tt = right thumb male
= left thumb male
= right thumb female
= left thumb female
Key:
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 21 of 22 Duncanrig Secondary School 2017
Key Questions:
Complete the following table using your notes to add the definition for each word.
Term Meaning
Discrete variation
Continuous variation
Gene
Phenotype
Genotype
Allele
Dominant
Recessive
Homozygous
Heterozygous
National 5 Biology 2.4 Variation and Inheritance Pupil Course Notes
Page 22 of 22 Duncanrig Secondary School 2017