Genetics

 Genetics is the study of hereditary – how genetic characteristics are

passed on from parents to child.
 Every individual inherits a set of genes found in chromosomes from a father
and a mother which is unique to that individual but similar enough to
identify the individual’s species.

Terminology
Chromotin The tangled mas of chromosomes in the nucleus of the cell

Chromosomes These are thread-like structures forming the chromatin network

in the nuclei of all cells. Before the cell divides, the
chromosomes replicate to form two threads (DNA molecules) or
chromatids which are joined by a centromere.
Chromosomes occur in homologous pairs – the one is from the
mother (maternal origin) and the other is from the father
(paternal origin). The two homologous chromosomes are the
same length and carry the same genes.
There are 23 homologous chromosomes in each human cell.

Gene A gene is the length of DNA nucleotides that codes for one
characteristic/protein.Each
chromatid is made up of a
Gene 1
DNA molecule. Each DNA
molecule.

Each DNA molecule carries Gene 2

a number of genes.

1
Locus The position at which particular gene is found.
Homologous chromosomes have the same genes at the same
locus.
Allele Alleles are the different forms of a gene which are found at the
same locus on homologous chromosomes.
e.g. Tall and short are alleles for the characteristic of height.
When describing characteristics, alleles are represented by
using letters. A capital letter is used to represent the dominant
allele and a small letter to represent the recessive allele.
Tall plant – T (dominant)
Short plant – t (recessive
Homozygous For each characteristic there are two alleles.
If the alleles for the characteristic are the same, it is said to be
homozygous for that characteristic

Dominant allel (T)

-tall plant

Recessive allele (t)

-short plant

Heterozygous If the alleles for

the characteristic
are different, it is
said to be
heterozygous or
hybrid e.g. Tt –
heterozygous for
tall

Multiple There are not always only two alleles for a characteristic.
2
alleles Sometimes there may be multiple. e.g there are three alleles for
human blood groups (A, B and O)

Genotype The genetic composition (make-up) of an organism. The

genotype for hair colour can be TT, Tt or tt

Phenotype This is the physical appearance of an organism produced by the

genotype. e.g. Tall plant
The phenotype is partly governed by genes but is also shaped
by external factors such as exercise and diet.

Dominant The dominant allele is the allele that will be expressed in the
Allele heterozygous condition. e.g. If a person has a tall and a short
allele (Tt) then they will be tall as tall is dominant over short.

Recessive The recessive allele is the allele that is not expressed (masked)
Allele in the heterozygous condition (Tt). e.g. short plant. The short
allele is hidden by the tall allele
The recessive allele is only expressed when both alleles are
recessive.
Multiple More than two alternative form of a gene at the same locus. E.g.
alleles Blood groups are controlled by 3 alleles. Namely IA, IB and i.
All three alleles are present in the population, but and individual
can only have 2 alleles
Genome The complete set of human genes found in the body
Karyotype A Karyotype shows all the
chromosomes in a cell. They
are shown in pairs and
ordered from largest to
smallest

Autosomes non-sex chromosomes

Gonosomes sex chromosomes
Females – XX
Males - XY
ACTIVITY 1
3
1. The paired letters in the diagram below represent alleles
of a gene. A number of genes for different characteristics
are shown. Write down the relevant letter (A – D) for:
a) The homozygous dominant state

b) Two alleles from different genes

c) The homozygous recessive state

d) The heterozygous state (4)

2. What is the relationship between a gene and a protein? (2)

3. What is an allele? (2)
4. What terms describe a pair of alleles that are:
a) the same?
b) different? (2)
5. Write a definition of homologous chromosomes using the terms “genes”
and “alleles”. (3)
6. How are alleles represented? (1)
7. Fill in the table below with the missing genotype, phenotype (dominant or
recessive), or alleles (TT, Tt, tt) (6)
Genotype Phenoty Allele
pe s
homozygous
dominant
short t/t

8. Draw a pair of homologous chromosomes. Label the

chromosomes with two sets of genes, one with homozygous
dominant alleles, one with homozygous recessive alleles and
one with heterozygous alleles. (5)
(25)

4
5
How are genes passed from parent to offspring?

Adult meiosis

2n

Growth by mitosis
Male Female
gamete gamete
n n

zygote
fertillization
ACTIVITY 2
2n
1 The diagram below shows alleles controlling skin colour and hair shape
6
 KEY
B-- brown eye color
b-- blue eye colour
D-- curly hair
d – straight hair

1.1.1 What is an allele? (1)

1.1.2 Differentiate between the terms phenotype and genotype. (2)
1.1.3 Name the characteristics controlled by dominant alleles in the diagram
above. (2)
1.1.4 Write the genotype for an individual who is heterozygous for hair shape. (1)
1.1.5 Give the genotype of an individual with blue eye colour. (1)
1.1.6 Explain why an individual with Dd has curly hair. (4)
1.1.7 Give the genotype of an individual with curly hair (1)
1.1.8 Why is individual with genotype dd said to be homozygous (2)

Mendel’s Experiments

7
Gregor Mendel, an Austrian monk (a type of priest), is regarded as the father of
genetics for his work on garden pea plants that helped explain how genes are
passed from parents to offspring.
Mendel’s work on the genetics of peas began with the observation of peas to
determine what traits were inherited. He noticed at least 7 traits that appeared to
be inherited in pea plants.
Seed Pod Flower Size
shape colour shape colour position colour

round purple
yello axial
full green tall
w

shor
t

wrinkle white
d green
constricte yello termin
d w al

Cross between Tall and Short plants

Mendel crossed pure-breeding tall pea plants and pure-breeding short pea
plants.
8
He always used pure breeding plants (when they are crossed among themselves
they aways produce offspring that are like the parents)

The way Mendel crossed plants was to:

 take pollen grains from one plant and dust them on the stigma of another
plant (having first removed the anthers of this plant to prevent self-
pollination)
 collect the seeds that resulted from crosses between tall and short pea
plants
 sow the seeds

He found that when the seeds germinated, they all grew into tall pea plants. This
first generation is called the F1 generation and all the plants were tall.

Mendel then took the F1 plants and self pollinated each of them. The resulting
seeds were sown and the F2 generation examined.
He found three quarters of the F2 generation were tall and one quarter were
short.
The ratio of tall:short was 3:1.

9
 Mendel's Laws
Mendel's Principle of Segregation
An organism possesses two 'factors' which separate or segregate so that each
gamete contains only one of these 'factors'

The Law of Dominance-

 When two homozygous organisms with contrasting characteristics are crossed,
all the individuals of the F1 generation will display the dominant trait
 An individual that is heterozygous for a particular characteristic will have the
dominant trait as the phenotype.

Mendel's Principle of Independent Assortment

The various 'factors' controlling the different characteristics are separate entities,
not influencing each other in any way, and sorting themselves out independently
during gamete formation.

GENETIC DIAGRAMS
 It is important to start with a PAIR of alleles in the mother and another PAIR in
the father because each individual inherits TWO alleles for a gene – one
maternal and one paternal (the bivalent chromosomes).
 This pair may be identical (HOMOZYGOUS) or different (HETEROZYGOUS)
alleles.
 Alleles are represented by letters: CAPITALS (for dominant alleles) or small
letters (for recessive alleles).
 P stands for the Parent generation
 F stands for the offspring (Filial generation) – remember F for Family. F1
generation is the first filial generation, F2 the second.

Punnet Squares

10
A punnet square is used to show the fusion of gametes. The punnet square
below shows the cross between two heterozygous tall pea plants

Do Activity 5.3 on page 74 (Understanding Life Science)

Layout of a genetic Explanation
diagram
Visible trait is the
P1 Phenotype …………….......x phenotype
 e.g. tallness,
Genotype ……………… x..................... shortness, etc.
Meiosis Gametes The genetic make-
………………....x
 up of the individual
is its genotype e.g.
TT or Tt or tt
Fertilisation The alleles
segregate (or
F1 Genotype............................................ separate) during
meiosis to form
Phenotype........................................... gametes. Each
gamete has only
P1 and F1  one copy of each
Meiosis and fertilisation allele
OR

11
 P1 Phenotype …………….... .x During fertili- sation
 the indi- vidual gets
one allele of the
Genotype …………… x................... gene from each
Meiosis parent
Gametes ……………… x.........................
The matrix box
Fertilisation Gametes used to deter- mine
the results of
fertilisation is called
a Punnet
Square
F1 Phenotype.........................................
Genotype..........................................

P1 and F1 
Meiosis and fertilisation
It is important to learn the exact layout because marks are allocated
for the layout as well as the correct working out of the cross. Use
the following genetic diagram or template to solve all genetic
crosses.
IMPORTANT: You may also be asked to work out the ratio or % chance of the various
pheno-/genotypes occurring. So, if there are 4 possible geno- or phenotypes in total
and only 1 having a particular phenotype, it will be a 1 in 4 ratio (25% chance)
TYPES OF DOMINANCE
COMPLETE DOMINANCE
- one allele is dominant over the other; the other is recessive
e.g. In Mendels Pea plants: Tall is dominant, dwarf is recessive

INCOMPLETE DOMINANCE
- none of the two alleles of a gene is dominant

Sometimes when two homozygous Parents cross, the offspring have a new
(third) characteristic which is a blend of the parents characteristic. This is call
incomplete dominance.

12
 e.g

Because neither of the alleles (Red or white) is dominant we can’t use just one
letter so we use the letters of each allele. E.g. R for red and W for white.

If a flower is RR it will be red

WW it will be white
But if it is RW it will be pink ( a blend of the two colours)

CO-DOMINANCE
- both alleles of a gene are equally dominant

MONOHYBRID CROSSES
Monohybrid crosses refer to genetic crosses that involve only a single characteristic
or trait. Dihybrid crosses involve two characteristics or traits.

MONOHYBRID CROSSES WITH COMPLETE DOMINANCE

Mendel’s work as discussed above shows monohybrid crosses with complete
dominance. In complete dominance, the dominant allele masks or blocks the
expression of the recessive allele in the heterozygous condition.
The following example represents a genetic cross which shows complete
dominance.

13
ACTIVITY 3: Monohybrid Crosses

1. In humans, the allele for blue (b) eyes is recessive to the allele for brown (B)
eyes. A man, heterozygous for brown eyes marries a woman with blue eyes.
Show how the possible genotypes, phenotypes and ratio of individuals with
brown and blue eyes in the F1-generation may be obtained. (6)

2. In rabbits the dominant allele (B) produces black fur and the recessive allele
(b) produces white fur. Study the table below
Rabbit 1 2 3 4
Genotype BB Bb Bb bb
2.1 What are the phenotypes for rabbits 2 and 4 respectively (2)
2.2 State the genotypic ratio that is shown in the table above. (1)
2.3 If rabbits 1 and 4 were mated and had 12 offspring, how many of these would
you expect to be black? (1)
2.4 Rabbit 2 was allowed to breed with rabbit 3. Use a genetic cross to show the
possible phenotypes and genotypes of the F1 generation for fur colour. (6)

14
3. In an experiment to show co-dominance, cows with white fur (W), were
crossed with bulls with red fur (R). All the offspring of the F1 generation have
roan fur (RW).
A roan fur consists of patches of white and patches of red fur. Roan cows and
roan bulls were crossed and the results are given below.
Genotype RR RW WW
Number of offspring 120 240 120

3.1 Give the ratio of the different phenotypes shown in the above table. (2)
3.2 Use the information in the table above to draw a pie chart showing the
proportions of the different genotypes. (7)

NOTE:
If an individual shows a dominant phenotype, how do we know whether it is
homozygous or heterozygous for the dominant alle?
The only way to find out is to cross it with an individual showing the recessive
phenotype.
1. If the offspring all show the dominant phenotype, the organisms must have
been homozygous. TT x tt = All Tt

2. If the offspring show a ratio of dominant to recessive of 1:1, the organisms

must have been heterozygous. Tt x tt = 2Tt : 2tt

RULES FOR COMPLETE DOMINANCE

DOMINANT ALLELES are represented by a CAPITAL LETTER

recessive alleles are represented by a small letter

1. Homozygous dominant x homozygous recessive

BB x bb
Offspring all heterozygous dominant
4/100% Bb, Bb, Bb, Bb

2. Heterozygous dominant x heterozygous dominant

Bb x Bb
15
 Offspring have a 3:1 or 75%:25% ratio
75% or 3 black
25% or 1 white

3. Heterozygous dominant x homozygous recessive

Bb x bb
Offspring have 2:2 => 1:1: or 50%:50% ratio
50% or 1black
50% or 1 black
Key: B- black b- white

MONOHYBRID CROSSES WITH INCOMPLETE DOMINANCE

A homozygous red-flowering plant crossed with a homozygous white- flowering
plant will produce plants that have pink flowers (Figure 6).

Because neither of the alleles (Red or white) is dominant we can’t use just one
letter so we use the letters of each allele. E.g. R for red and W for white.

If a flower is RR it will be red

WW it will be white
But if it is RW it will be pink ( a blend of the two colours)

Look at the cross below to see how all offspring will be pink.
Alleles R – Red W – White
16
P1 Phenotye Red White 
Genotype RR WW 
MEIOSIS

Gametes R R W W 

 F1 R R
 FERTILIZATION W RW RW 
W RW RW
Genotype All RW 
Phenotype All Pink 
If we cross the F1 offspring we will get the following result
P1 Phenotye Red White 

Genotype RW RW 
MEIOSIS

Gametes R W R W 

 F1 R W
 FERTILIZATION R RR RW 
W RW WW
Genotype 1 RR : 2 RW : 1 WW 
Phenotype 1 Red : 2 Pink : 1 White 

ACTIVITY 3
1. Two grey mice were mated. Some of the offspring were grey, others black
and some white. How is this possible? Do a genetic cross to explain this
result. (6)
2. Incomplete dominance is seen in the inheritance of hypercholesterolemia
(high blood cholesterol levels). H represents the allele for very high levels
and L for low levels.
2.1 Sipho and Andiswa are both heterozygous for this characteristic and both
have high cholesterol levels but not as high as their daughter Sihle who has
levels that are six times above normal. She is homozygous for high
cholesterol levels.
17
 What fraction of their children will have high but not extreme cholesterol
levels? Do a full genetic diagram to explain your answer. (7)
2.2 What is the percentage chance that their next child will have …

a) low cholesterol levels? (1)

b) extremely high cholesterol levels like Sihle? (1)
(15)

MONOHYBRID CROSSES WITH CODOMINANCE

In a certain breed of cattle, coat colour may be red, white or roan. Roan
cattle have red and white patches.
Both red and white are EQUALLY dominant. We use R for red and W for
white because both are dominant.
Therefore a cow who is:
RR will be red
WW will be white
RW will have red and white(roan)

Alleles R – Red W – White 

P1 Phenotye Red White

Genotype RR WW 

MEIOSIS

Gametes R R W W 

 F1 R R
 FERTILIZATION W RW RW 
W RW18 RW
 Genotype All RW 
Phenotype All Roan 

If we cross the F1 offspring we will get the following result

P1 Phenotye Roan coat Roan coat 

Genotype RW RW 

MEIOSIS

Gametes R W R W 

 F1 R W
 FERTILIZATION R RR RW 
W RW WW
Genotype 1 RR : 2 RW : 1 WW 
Phenotype 1 Red : 2 Roan : 1 White 

SUMMARY: TYPES OF DOMINANCE

Type of
dominance

Description

Crossing
KEY: Black fish (B) x
Grey fish (G)

Type of
dominance
19
 Description

Crossing

KEY: Red bird (A) x

Blue bird (a)

Type of
dominance

Description

pink
Crossing
Key: White flower (W)x
Red flower (R)

SEX DETERMINATION

The following problem represents a genetic cross which shows inheritance of sex
A couple has three sons and the woman is pregnant again. Show by means
of a genetic cross what the percentage chance is of the couple having a
baby girl

20
The genetic cross above shows that the percentage chance of having a boy
or a girl is 50%.

In humans, there are 46 chromosomes (i.e. 23 from the mother and 23 from
the father). Of these 46 chromosomes, 44 control the appearance, structure
and functioning of the body. These are called autosomes. The remaining
pair determines the sex of the individual and are called the gonosomes. In a
female the gonosomes are two large X chromosomes and in the male there
is one large X chromosome and a smaller Y chromosome.

Each species has its own unique number, shape and size of chromosomes –
this is called the karyotype.
Examine the two karyotypes below to see if you can identify which comes
from a female and which from a male.

21
 After meiosis, an egg cell will have 22 autosomes + an X gonosome. A female
will have two large X gonosomes (as in karyotype 1 – see pair 23), while a
male will have an X gonosome and a Y gonosome (as in karyotype 2 – see pair
23).
Males thus have two types of sperm: half will have 22 + X chromosomes, and
the other half will have 22 + Y chromosomes. Depending on which sperm
reaches the egg, there is a 50% chance of the zygote being male and a 50%
chance of the zygote being female.
SEX LINKED DISEASES
Although most of the bodily characteristics are carried on the 22 pairs of
autosomes, there are a few characteristics carried on the gonosomes only.
Thus, for example, the gene for hair growing on the inside
of the pinna (Figure 9) is carried on the Y chromosome,
so only men will have this characteristic.
Certain sex-linked genetic disorders are carried on the
allele found on the X chromosome only. Two of these
disorders are colour blindness and haemophilia.

Figure 9: Hairy
 A person is colour-blind if unable to tell different colours apart.
For example, red-green colour-blindness is caused by an
22
 absence of the proteins that make up the red or green cones
(photoreceptors) in the retina of the eye resulting in the person
not being able to tell the difference between red and green.
 Haemophilia is the inability of the blood to clot due to lack of a
blood clotting factor. If the sufferer were to cut themselves, the
wound would continue to bleed until a clotting factor is transfused
in hospital.
 Colour-blindness and haemophilia is caused by the recessive
allele on the X- chromosome normally shown as (Xb) for colour-
blindness and (Xh) for haemophilia
 As a result, men who have only one X chromosome, have a
greater risk of inheriting these disorders.
 Women, on the other hand, have a much lower chance of
inheriting two X chromosomes which both carry the recessive
allele for the disorder. If a woman inherits one X chromosome
with the recessive allele for the disorder, she is called a carrier
as she does not show signs of the disorder but can pass it on to
her children.

Tables 3 and 4 below relate the inheritance of haemophilia and

colour-blindness.

Table 3: Inheritance of haemophilia

Genotype Phenotype
XHXH Female without haemophilia

XHXh Female without haemophilia (carrier)

X hX h Haemophiliac female

XHY Male without haemophilia

X hY Haemophiliac male

Table 4: Inheritance of colour-blindness

Genotype Phenotype
XBXB Female without Colour-blindness

23
 XBXb Female without Colour-blindness (carrier)

X bX b Colour-blind female

XBY Male without Colour-blindness

X bY Colour-blind male

Do not add any letter to the Y chromosome since the Y chromosome does not
have an allele to counteract the recessive allele for haemophilia and colour-
blindness.

How to explain Sex linked diseases:

1. Explain why males have a greater chance of having haemophilia than
females.
Male only have one X chromosome (XY).
If they carry the haemophilic allele on the X chromosomes then they will
have the disease.
As they do not have another X chromosome to mask it.

2. Explain why females have a lower chance of having colour blindness than
males.
Females have two X chromosomes (XX).
If they have one X with the colour blindness allele,
They will not have the disease
As they have another X with a normal allele that will mask it.
They need two X chromosomes with the colour blindness allele to express
the disease.
ACTIVITY 4: Sex-linked diseases
1. Haemophilia is a sex-linked disease caused by the presence of a
recessive allele (Xh).
A father without haemophilia and heterozygous mother have children.
Construct a genetic cross to determine the possible genotype and
phenotype of the children of the parents. (6)
2. Explain why the chances of men having a sex-linked disorder is much
higher than it is for women. (4)
3. Read the following extract on cystic fibrosis and answer the questions that
follow.
Cystic Fibrosis (CF)
CF is a progressive, genetic disorder caused by a recessive allele
on chromosome number 7. One in twenty people of European
24
descent carry the CF allele. One in 400 couples of European
descent will be carriers of CF.
The disorder causes persistent lung infections and limits the ability
to breathe over time. In people with cystic fibrosis, the defective
gene causes a thick, build-up of mucus in the lungs and it clogs
the airways and traps bacteria leading to infections and then
 3.1 Explain why cystic fibrosis is not a sex-linked disease. (2)
3.2 Use a genetic cross to show what percentage of children will be
affected if one of the parents is heterozygous and the other is homo-
zygous normal. The recessive allele is represented as b. (6)
3.3 Maggie and William want to start a family, but Maggie’s brother had
cystic fibrosis. She doesn’t want her own child to suffer as her brother
did. Maggie and William decided to visit a genetic counsellor. Explain
how this may help Maggie and William in their decision. (2)
MARCH 2017

In an exam you may be asked to do other sex-linked disorders other than

haemophilia and colour-blindness. DO NOT make a disease sex-linked
unless they TELL YOU it is sex-linked.
When describing an individual who does not have the disease we do not
call them normal. E.g. A male without haemophilia NOT a normal male
MULTIPLE ALLELES
The genetic crosses dealt with thus far involved two alleles of a gene, e.g.: T
or t, R or W. Sometimes a characteristic is however controlled by more than
two alleles.
Blood type (or blood grouping) is an example of such a characteristic.

There are four blood types in humans: A, B, AB or O. These phenotypes are

controlled by three alleles but each person still inherits two alleles. It is very
important to know how to name (or write down). The 3 alleles for blood groups
are:
IA for blood type A
IB for blood type B
i for blood type O
IA and IB are dominant over I, I is recessive
Since IA and IB are co-dominant (i.e. both are equally dominant), when they
come together in a person’s blood type they form IAIB which is the genotype
for blood type AB

HUMAN BLOOD TYPES

25
 PHENOTYPE GENOTYPE
A A
Type A I I (homozygous) OR (heterozygous)
Type B I BI B (homozygous) OR (heterozygous)
Type O ii (homozygous recessive)
Type AB I AI B (co-dominant)

Use of Blood tests in paternity tests

The blood groups of the mother, possible father and child must be compared.
If the blood groups of the adults do not correspond to or match the child’s
blood group then this man is not the father. If the blood groups of the adults
correspond to or match the child’s blood group, then there is a possibility that
the man is the father and other tests need to be done as other men may have
the same blood group.
Only DNA profiling can be conclusive as it looks at the similarities between the
nucleotides in the DNA of the father and the child. Each DNA profile is unique
to an individual. 50 % of the DNA fragments / bands / bars are derived from
the mother and 50 % from the father. If 50 % of the DNA fragments / bands /
bars correspond with the father, then it can be claimed that he is the father of
the child. DNA is viewed as more reliable evidence of paternity than the use of
blood groups.

Example of a monohybrid cross using blood types:

A man and a woman both have blood group B. Use a genetic cross to show
how it is possible for them to have a child with blood group O.

26
ACTIVITY 5: Monohybrid crosses using blood types
1. If the child has blood group O and the mother blood group A, could
the man with blood group AB be the father of that child? Use a
genetic diagram to explain your answer.
(6)
2. Human blood groups are controlled by multiple alleles.
a) List all the alleles that control human blood groups. (3)
b) How many of the alleles named in a) can any individual inherit? (1)
c) Give a reason for your answer to question b). (1)
d) Which 2 alleles are co-dominant in the inheritance of blood groups? (2)
e) A man has blood group A and his wife blood group B. Their first child has
blood group AB and the second child blood group O. What can one
conclude about the blood groups of their future children?
27
 (3)

3. In hospital, two mothers had babies at the same time. A nurse took both
babies away to wash them, and forgot which was which. To make sure
that the right baby was given to the right mother, the two babies, the two
mothers and the two fathers had all their blood groups checked. The
results were:
Mrs X group A Mr X group A
Mrs Y group B Mr Y group AB
Baby P group O Baby Q group A

Which baby belongs to which parents? Give a reason for your answer.

PAST PAPER QUESTIONS:

MARCH 2017 BLOOD GROUPS

NOVEMBER 2016

28
 DIHYBRID CROSS
Dihybrid crosses involve two pairs of alleles representing two different
29
characteristics, e.g.: the height of a plant and the colour of its seeds.
According to the Law of Independent Assortment, alleles of different
genes move (segregate) independently of each other into the gamete.
They therefore appear on the gametes in different combinations.
Work through the following example of a dihybrid cross and remember
that the alleles for each characteristic could be either homozygous or
heterozygous.

Example of a Dihybrid cross

In pea plants, the allele for tallness (T) is dominant and the allele for
shortness (t) is recessive. The allele for purple flowers is dominant
(P) and the allele for white flowers is recessive (p). Two plants,
heterozygous for both tallness and purple flowers were crossed.
 Step 1: Decide whether this concerns a monohybrid or a dihybrid cross.
Since two characteristics of each plant are mentioned (phenotypes: height
of plant + colour of flower), it must be a dihybrid cross.

 Step 2: Choose/ use letters to represent the alleles for the gene
responsible for each characteristic.
Let T = the allele for tall plants Let t = the
allele for short plants Let P = the allele for purple flowers Let p =
the allele for white flowers
 Step 3: Write down the phenotype of the two parents that would
be producing gametes.
tall purple X tall purple (as per question)

 Step 4: Write down the genotype of the parents.

TtPp X TtPp

 Step 5: Show the gametes that each parent produces after

meiosis. Each gamete must have two letters (dihybrid) – one
from each characteristic.
N.B. Remember Mendel’s Law of Independent Assortment.

TP Tp tP tp x TP Tp tP tp
30
  Step 6: Draw and complete a punnet square by writing in the
combination of alleles in each block.

P1 Phenotype Tall, purple x Tall, purple

Genotype TtPp x TtPp
Meiosis
Gametes TP Tp tP tp x TP Tp tP tp

Fertilisation
Gamete TP Tp tP tp
s
TP TTPP TTPp TtPP TtPp
Tp TTPp TTpp TtPp Ttpp
tP TtPP TtPp ttPP ttPp
tp TtPp Ttpp ttPp ttpp

F1 Genotype 9 different genotypes, as in the

table above
Phenotype 9 tall, purple flowered plants
3 short, purple flowered plants
3 tall, white flowered plants

1 short, white flowered plant

 Step 7: Determine the phenotypic ratios from the genotypes in the punnet
square

Phenotypic ratio: 9:3:3:1

If there is one capital letter for the allele in the F1 generation, then that
trait (characteristic) shows in the phenotype; if there are small letters
then the recessive trait shows.

ACTIVITY 6: Dihybrid Cross

1. Two characteristics of an animal (length of the ears and shape of the lip)
were studied. Each of these characteristics has two variations: Ears may
31
 be long or short, and the lip may be a wide or pointed.
A male animal homozygous for wide lips (LL) and heterozygous for short
ears (Ee) is crossed with a female animal that is heterozygous for wide
lips (Ll) and homozygous for long ears (ee).
1.1 What term describes a genetic cross involving two
characteristics? (1)
1.2 Give the
a) dominant phenotype for the length of ears
(1)
b) recessive phenotype for the shape of the lip
(1)
c) possible genotype/s for an animal with short ears and a pointed lip
(1)
1.3 A male animal with genotype EELl is crossed with a female
animal with genotype Eell. List all the possible gametes that could be
produced by the male animal.

(2)
1.4 Explain how Mendel’s Law of Independent Assortment
applies to parents with LlEe genotypes during gamete formation.
(4)

2. In humans the allele for short fingers (brachydactyly – a shortening of

the fingers and toes), represented by B, is dominant over the allele for
normal fingers (b). The allele for curly hair (H) is dominant over the
allele for straight hair (h).
Andrew, with genotype Bbhh, married Susan, with genotype bbHh.

2.1 How do Andrew and Susan’s phenotypes differ from each other?
(2)
2.2 List all possible genotypes of the gametes produced by Andrew.
(2)
(14)

32
A plant that is homozygous round and yellow is crossed with a plant that is
homozygous wrinkled and green.

P1 phenotype round yellow x wrinkled green

genotype BBYY x bbyy

BY by
gametes x
fertilisation
F1 generation BbYy
round yellow
ALL of the offspring will have the genotype BbYy. They will have round yellow
seeds.
What offspring would you expect if two of the plants produced from the cross
above were crossed together?

P2 phenotype round yellow x round yellow

genotype BbYy x BbYy

BY By bY by BY By bY by
gametes x
fertilisation
gamete
F2 generation BY By bY by
s
BY BBYY BBYy BbYY BbYy
round yellow
round yellow round yellow round yellow
BBYy BByy BbYy Bbyy
By
round green
round yellow round yellow round green

bY
BbYY BbYy bbYY bbYy
round yellow round yellow wrinkled yellow wrinkled yellow
BbYy Bbyy33 bbYy bbyy
by
round yellow round green wrinkled yellow wrinkled green
 9 round yellow : 3 round green : 3 wrinkled yellow : 1 wrinkled green
From the above we can conclude that inheritance of seed shape occur
independent from seed colour.
The 9:3:3:1 ratio of the four phenotypes observed by Mendel, forms the
basis of his second “law” or principle that each member of a pair of
contrasting characteristics segregates independently from any other pair of
characteristics. This is known as Mendel’s principle of Independent
assortment.

Questions
1. For each of the following genotypes, give all possible gametes for the
individual.
1.1 TtGG
1.2 TtGg
1.3 TTGg

2. For each of the following, state whether a genotype or a type of gamete is

present.

2.1 Tg
2.2 WwCC
2.3 TW

3. In fruit flies, brown body colour is dominant over black colour while normal
wings are dominant over short wings. A homozygotic brown fly with normal
wings is crossed with a black fly with short wings. Use the symbols B and b
for body colour and V and v for the characteristics of the wings. Use a
diagrammatic representation to show the following

3.1 The genotype of each parent

3.2 The genes of each parent’s gametes
3.3 The genotype and phenotype of the F1 generation
3.4 The different gene combinations of the gametes of the F1 –offspring
3.5 The phenotype and genotype of the F2- offspring (use a Punnett
diagram)

34
4. Assume that black fur in guinea pigs is due to the dominant gene, B, and
white fur to the recessive gene, b. Short fur is due to the dominant gene S
and long fur to the recessive gene, s. A breeder did the following crossing

4.1 BbSs x bbss

4.2 BbSS x bbss

Determine in each of the crossings the phenotype of each of the parents as

well as possible genotype and phenotype of the F1-offspring. Show the ratios
of the phenotypes of the F1-offspring.

5. In humans, short fingers (S) and widow’s peak (W) are dominant over long
fingers and continuous hairline. A heterozygote in both regards reproduces
with a similar heterozygote. What is the chance of:

5.1 Any one child having the same phenotype as the parents?
5.2 Having a child being recessive for both traits?

6. In horses, black coat B is dominant over brown coat b and being a trotter T
(move both legs on the same side forward in unison) is dominant over being
a pacer t (move left front and right rear forward, then follow suit with right
front and left rear). A black pacer is crossed with a brown trotter. The
offspring is a brown pacer. Give the genotypes of all these horses.

7. The complete genotype of a long-winged, grey-bodied fruit fly is unknown.

When this fly is crossed with a short-winged, black-bodied fruit fly, the
offspring all have a grey bodies but about half of them have short wings.
What is the genotype of the long-winged, grey-bodied fly? Use the symbols
G and g for colour and L and l for wings.

35
PAST PAPER QUESTIONS

NOV 2016

36
Nov 2014

37
 GENETIC LINAGE (PEDIGREE DIAGRAMS
A pedigree diagram (also called a family tree) is used to study the inheritance
of characteristics in a family over a number of generations.

The pedigree diagram in below shows inheritance of eye colour in humans

over three generations of a family. Brown eye colour (B) is dominant over
blue eye colour (b).

NOTE:
 Squares represent males and circles represent females
 The horizontal line between a square (Joshua) and a circle (Ronel) shows
that they have mated.
 The vertical line flowing from the horizontal line represents the offspring
(Sarah and Peter) of the two parents (Joshua and Ronel).

Remember the following steps when interpreting pedigree diagrams:

38
 Step 1: Study any key and opening statement/s and look for dominant and
recessive characteristics and phenotypes.
Brown eye colour (B) is dominant over blue eye colour (b) – as stated in the
problem
 Step 2: Write in the phenotypes of all the individuals as given in the
problem.
o Joshua, Jack and John are males with blue eyes.
o Veronica and Marlena are females with blue eyes.
o Peter and Frank are males with brown eyes.
Ronel, Sarah and Gayle are females with brown eyes

 Step 3: Fill in the genotype of all the individuals with the recessive
condition it must have two recessive alleles (two lower case letters, e.g.
bb).
Joshua, Veronica, Marlena, Jack and John will have the genotype ‘bb’. The
recessive characteristic only shows up in the homozygous condition
 Step 4: For every individual in the diagram that has the recessive
condition, it means that each allele was obtained from each of the parents.
Work back- wards and fill in one recessive allele for each parent.

 Step 5: If the parents showed the dominant characteristic, fill in the second
letter which represents the dominant allele (a capital letter, e.g. B).
The genotype of Peter is ‘Bb’ – working backwards from the offspring
Marlena or Jack or John who are homozygous recessive. This means that
one of the recessive alleles of Marlena, Jack and John, i.e. ‘b’, must have
come from parent Peter and the other one from parent Veronica
 Step 6: Any other individual showing the dominant characteristic will most
likely be homozygous dominant (BB) or heterozygous dominant (Bb).
Ronel could be homozygous dominant (BB) or heterozygous dominant (Bb)

ACTIVITY 7: Pedigree Diagrams

1. The pedigree diagram below shows the inheritance of colour-blindness in a

39
 family. Colour-blindness is sex-linked and is caused by a recessive allele
(d). The ability to see colour normally is caused by a dominant allele (D).

1 2

3 4

Normal male Normal female

Colour-blind male Colour-blind female

Inheritance of colour-blindness

1.1 How many of the male offspring of parents 1 and 2 were normal?
(1)
1.2 What percentage of males in this pedigree diagram are affected? Show
your workings. (2)
1.3 State the genotype of
a) Individual 2 (1)
b) Individual 5 (1)
1.4 If individual 5 marries a normal male, what percentage of their daughters
will have an allele for colour-blindness, but will not be colour- blind? (1)

2. The pedigree diagram below shows the pattern of inheritance of a

certain genetic disorder controlled by a recessive allele. The dominant
allele is represented by N and the recessive allele by n.
2.1 Explain why both parents must be heterozygous for this characteristic.
(2)

40
 Father Mother

Normal male Normal female

Affected male Affected female

2.2 Give the possible genotype(s) of the normal children. (2)

2.3 Provide evidence from the pedigree diagram to show that this
characteristic is not sex- linked. (3)

3. Use the pedigree diagram below to answer the questions about dimples
(small depressions on the cheeks when smiling). The dimple allele (D)
controls whether a person has dimples or does not have dimples. The
allele for having dimples is dominant to the allele for not having dimples
(d).

1 2 3 4

5 6 7 8 9 10 11

12 13 14

Male Female – have dimples

Male Female – no dimples

41
3.1 How many family members have dimples? (1)
3.2 What is the genotype of the individuals?
a) 3 (1)
b) 4 (1)
3.3 State whether the following individuals are homozygous or
heterozygous for having dimples:
a) 2 (1)
b) 9 (1)
3.4 State the family relationship between individual 12 and individual 2. (1)
(19)
PAST PAPER QUESTIONS:

42
43
NOV 2016

44
 Mutations

Know the difference between the terms mutation, gene mutation, and
chromosome mutation.
The definition of a mutation is more general than the definitions of a gene or
chromosome mutation, which are more specific.

NOTE: a description of point and frameshift mutations are not required!

DEFINITIONS:

Mutation – a sudden change in the genetic composition of an organism

Gene mutation – a change in the sequence of nitrogenous bases or

nucleotides in DNA

Chromosomal mutation – a change in the normal shape, structure or number

of Chromosomes
45
Gene Mutations
 Genes are the units responsible for the transmission of hereditary
characteristics from parent to offspring
 Genes are small portions of DNA that carry the genetic code for protein
synthesis
 DNA can make identical copies of itself through DNA replication
 Sometimes mistakes occur during the copying process so the copy is
not identical
 Some base pairs may differ and the structure of a gene can be changed
 The genetic code carried by the gene changes
 These mistakes and their resultant changes are mutations
 Mutations occur suddenly and randomly and may be caused by many
environmental agents e.g. chemicals, cosmic rays, ultra-violet radiation,
X-rays
 Individuals are affected by these agents differently
 Mutations occur in somatic and sex cells
 When they occur in somatic cells, they result in disorders like cancer
 When they occur in sex cells, they can be inherited
 Mutations occur more frequently than you think given the large number
of nucleotides in the DNA
 The human genome has 6 billion nucleotides and children have around
50 single nucleotide mutations that distinguish them from their parents
 A Change in the structure of a gene as a result of a change in the DNA
sequence which will result in a change in the protein produced and
therefore a change in characteristic
Examples of gene mutations
Know these examples:
- Haemophilia – absence of blood clotting factors
- Colour-blindness – due to the absence of the protein that comprise
either the red or green cones/photoreceptors in the guide

46
Chromosomal Mutations / Chromosomal Abbrations
 May take place as the result of mistakes during crossing over in
Prophase I
 Many chromosomal mutations occur as a result of the failure of
chromosomes to separate properly during Meiosis I (non-
disjunction)
Example of chromosomal mutations
- Down syndrome – due to an extra copy of chromosomes 21 as a result of
non-disjunction during meiosis

Effects of Mutation
 Harmful Mutations/ Lethal Mutations
 The mutated organism dies and the harmful mutations are not
passed on to the next generation
 Harmless Mutations
 Neutral Mutations
 No effect on the structure or functioning of the organism in
which they occur
 Advantageous Mutations
 Passed on from parent to offspring
 May wipe out all other alleles controlling the same
characteristics within the population → fixed mutation

47
 Biotechnology
Biotechnology is the use of organisms (e.g. bacteria) or biological processes to
improve the quality of human life, for example, in DNA profiling, genetic
engineering, stem cell technology and cloning.

DNA Profiling
DNA profiling was dealt with in Chapter 1. It is a form of biotechnology used for
paternity testing, the identification of individuals, and for many other purposes.

Genetic Engineering
Genetic engineering is used to alter the genome of a living cell for medical,
industrial or agricultural purposes. This results in a genetically modified
organism (GMO) or transgenic animal (animal with DNA from more than one
species).
GMO’s are used …
 to breed more productive crops or animals so that more food can be made
 to produce drugs or hormones (e.g. insulin) which have fewer side-effects
and is cheaper
 to ‘infect’ cells to cure diseases (gene therapy) such as brain tumours and
cystic fibrosis

What is meant by biotechnology? (2)

__________________________________________________________

What is meant by Genetic Engineering? (2)

____________________________________________________________

____________________________________________________________

______________________________________________________________________________________________

48
One process used to produce a GMO is recombinant DNA technology. It
can be used to manufacture human insulin using E. coli bacteria. The
process can be summarised as follows:

49
Briefly write step-by-step how this is done by using he diagram below. (4)
1. ____________________________________________________________

2. ____________________________________________________________

3. ____________________________________________________________

4. ______________________________________________________________

5. ______________________________________________________________

Advantages of Genetic Engineered Plants

 Pest resistance – the plants no longer taste good to insects.

 Herbicide tolerance – the crop plant is immune to poison, so large amounts
can be used to kill the weeds.
 Disease resistance – these plants are hardy and do not get affected by
diseases.
 Improved food quality – do not have damage due to pests or diseases so
look good.
 Cold tolerance – rice and tobacco have been engineered to be unaffected by
sudden drops in temperature.

50
  Drought or salinity tolerance – this helps plants grow in areas previously
unsuitable for agriculture.
 Nutritionally enhanced – for example adding vitamin A to rice (a staple food
in Asian countries) by introducing a gene from a daffodil.
 Incorporating vaccines into bananas/potatoes – this means that vaccines are
made by the plant which can then be transported to countries easily without
having to be refrigerated.

Disadvantages of GMO’s

 GMO’s contain glyphosate due to extensive spraying of herbicide.

 They are expensive so only ‘rich’ countries can benefit.
 The possibility of error is great as the process is complex.
 There has been no long-term safety testing as it is a relatively new
technology.
 People may be allergic to the inserted gene e.g. brazil nut gene in soya
beans.
 Widespread use of GMO crops may lead to a loss of biodiversity.
 New pathogens could be made for biological warfare.
 Ethically there is a fine line between what can be done and what should be
done.
Only time will tell whether GMO’s would solve the food security issues.
Theoretically the potential benefits are huge, but there are significant risks. This
also applies to the medical field and development of new drugs or ways to
administer the drugs.

Name some benefits that genetic modification has for humans. (4)

 _________________________________________________________

 _________________________________________________________

 _________________________________________________________
51
  _________________________________________________________

Stem Cell Technology

Stem cells are undifferentiated cells that have the ability to grow into any tissue
in the body. They may be harvested from embryos left over after IVF treatment,
from bone marrow and from blood in the umbilical cord. Skin and cartilage stem
cells have also been used.

Notes about stem cells technology

 Embryonic stem cells are the most versatile as they have the ability to form
any tissue. However, as the human embryos are killed, this is a controversial
technology.
 Adult stem cells are much less controversial. Bone marrow has been used for
a long time to treat cancers of the blood e.g. leukaemia, but other types of
stem cell treatments are constantly being explored. Some of the procedures
have involved:
o replacing dead cells in the heart after a heart attack
o growing skin tissue to treat burn victims
o growing nerve cells to treat spinal cord injuries and Parkinson’s disease

However, a great deal more research is needed before these procedures are
perfected. Parents who believe that there will be success in the future, are able
to collect umbilical cord blood from their babies at birth. This blood can now be
frozen and stored for future use. Although such facilities are available in South
Africa, it is an expensive option.

1. What are stem cells? (2)

____________________________________________________________

____________________________________________________________

2. Name some sources of stem cells (4)

52
 ____________________________________________________________

__________________________________________________________

3. What are some uses of stem cells? (Briefly state various uses) (4)

__________________________________________________________

__________________________________________________________

__________________________________________________________

Cloning

Cloning is the natural or artificial process of creating a genetically identical copy

of an organism or biological material (e.g. tissue). The organism produced in
this way is called a clone.
Cloning happens naturally when asexual reproduction takes place or a plant is
self- pollinated or when identical twins are formed from a single zygote. These
processes all give rise to individuals with DNA identical to that of the parent.
Biotechnology has enabled cloning to produce a new individual that is an exact
copy of the organism from which the body cell was taken.
 In July 1996, Dolly the sheep, was the first cloned mammal using an adult
cell, in this case a mammary gland cell.
 In April 2003, Futhi the cow, was the first cloned animal in South Africa and
in this case a cell from the ear of a prize-winning dairy cow was used.

Advantages of cloning
 Therapeutic cloning can replace damaged tissue e.g. skin, heart cells and
bone marrow, so helping to save human lives.
 Genetic diseases could be prevented.
 Superior animals may be bred to improve food supply and quality.
53
 Research in any form improves skills and could open other avenues due to
spin-off technologies which could help mankind in the future.

The process of cloning

The description of the cloning process that follows is related to figure below.
 Sheep A is the superior animal to be cloned. Sheep B is inferior, but
hardy, so it can survive the harvesting of eggs

 An egg cell from sheep B is taken and the nucleus is removed.

 A body (somatic) cell from the genetically superior sheep (sheep A) is
collected.
 The nucleus with DNA from cell A is removed and placed into the
“empty” egg cell B.
 The egg cell is stimulated with a shock so that it starts dividing by
mitosis.
 The egg cell now has DNA from the superior grow into an embryo.
 The embryo is then placed into the uterus of a surrogate or
foster mother (sheep C) and should develop to full term.
 The baby (lamb) is clone of sheep A meaning it will be an exact copy of
sheep A.

54
55
1. What is cloning? (2)

2. Explain step-by step how cloning is done. Use diagram to help you. (7)

____________________________________________________________

____________________________________________________________

____________________________________________________________

____________________________________________________________

____________________________________________________________

____________________________________________________________

____________________________________________________________

____________________________________________________________

____________________________________________________________

3. Give some advantages of cloning (4)

 _________________________________________________________

 _________________________________________________________

 _________________________________________________________

 _________________________________________________________

4. Give some advantages of cloning (4)

56
  _________________________________________________________

 _________________________________________________________

 _________________________________________________________

 _________________________________________________________

Please ensure that you can explain step by step how the following
processes occur:
 Cloning
 genetic modification (through recombinant DNA technology)

ACTIVITY 8: Biotechnology
Read the section of an article below taken from www.greens.org.
In the 1950’s, the media were full of57information about the great new
scientific miracle that was going to kill all harmful insects in the world,
wipe out insect-borne diseases and feed the world's starving masses.
That was DDT.
There are claims that genetic engineering will feed the starving and
help eliminate disease. The question is the price tag. As has been with
most technologies, such as DDT and nuclear energy, the promise of
 1. What do present day scientists possibly learn from using DDT in the
1950s? (2)
2. Explain what is meant by “the question is the price tag”. (2)
3. Explain two short term benefits and one long term disaster of GMO food.
(6)
4. What is meant by “you can now be a vegetarian and a cannibal”? (2)
5. What method could be used to insert human genes into mice? (1)
6. How would YOU feel if you father was a genetically engineered mouse?
(2)
Mitochondrial DNA and tracing genetic links

Mitochondrial DNA (mtDNA) is important for an understanding of evolution.

 Mitochondrial DNA (mtDNA) is found in mitochondria and contains 37 genes
which are needed to make the proteins involved in cellular respiration.
 As there is no crossing over involving mtDNA, the only changes that occur
are due to mutations.
 mtDNA mutates at a regular rate so scientists are able to analyse these
mutations to work out a timeline of genetic ancestry.
 Only the mother’s mtDNA is passed on to her offspring (male and female).
This is because the father’s mtDNA is found in the cytoplasm of the sperm
cell which is discarded, together with the tail, at the time of fertilisation.
 So, by analysing the mtDNA, the scientists can compare the mutations of
different people to see how closely related they are.

Furthermore, the more mutations that are found, the older that race is believed to
be. This research has found that our common female ancestor most likely lived
about 150 000 years ago in East Africa. She has been named “Mitochondrial
Eve”. The map (Figure 16) shows early human migrations. This evidence
supports the theory that the human race evolved in Africa and then migrated to
other parts of the world where they evolved into the various races. This will be
covered in the chapter on Human Evolution.

58
 Movement of early Hominins (Out of Africa Hypothesis)

Enrichment
Crossing over: https://www.youtube.com/watch?v=pdJUvagZjYA
Independent Assortment: https://www.youtube.com/watch?v=-Zzp3mLIycM
Gametes (fertilisation): https://www.youtube.com/watch?v=QyY8yb9S--s
Mendel’s work (terminology): https://www.youtube.com/watch?v=Lsj-Ij53CkA
Monohybrid crosses using a Punnett square: https://www.youtube.com/watch?
v=9AiE9ADkhNM
Past Paper Questions:

MARCH 2017

59
REVIEW WORKSHEET
Question 1
1.1 Various options are given as possible answers to the following
questions. Choose the correct answer and write only the letter (A to D)
next to the question number

1.1.1 The two genes that control the same characteristic are termed…

A dominant
B alleles
C recessive
D heterozygous

1.1.2 Which of the crosses will give a 1:1 phenotype ratio in the F1 generation?

A BB X bb
B Bb X bb
C BB X BB
D Bb X Bb

1.1.3 With respect to the ABO blood group locus it is possible to produce children
of four different phenotypes, if the parents are…

A type B x type B.
B type A x type B.
C type O x type AB.
D type AB x type AB.

60
1.1.4 The expected ratio of the phenotype of two heterozygous parents is more
or less:
A 1:1
B 2:1:2
C 3:1
D 4:1

1.1.5 In mammals a male offspring originates from…

A XX ovum x XY sperm
B X ovum x Y sperm
C X ovum x X sperm
D Y ovum x X sperm
(5x2)
Question 2
2.1 Eye colour in rabbits is represented by two alleles. Brown (B) and blue(b).
A Heterozygous brown eyed rabbit is crossed with a blue eyed rabbit. Use
a genetic diagram to show the possible genotype and phenotype ratios you
can expect. (8)
2.2 Two plants with yellow flowers are crossed. Roughly three quarters of the
offspring have yellow flowers, while one quarter have white flowers.
Choose suitable symbols for the alleles for flower colour and then represent
the above cross using a genetic diagram. (8)

Question 3
A homozygous red snap dragon plant is crossed with a homozygous white snap
dragon plant. The resulting flowers in the offspring are all pink.
Choose suitable alleles and show how this is possible using a genetic diagram.
(8)
Question 4
4.1 Draw a genetic diagram to show the possible genotypes of the children
born to a man with blood group O and a woman with blood group AB. (8)
4.2 Is it possible for a man with blood group A and a woman with blood group B
to have a child with blood group O? (1)
4.3 Draw a punnet diagram to show how this is possible. (4)

Question 5
A couple have 4 boys and desperately want a girl.
61
5.1 What percentage chance do they have of having a girl. (2)
5.2 Using a genetic diagram show why you gave the answer you did in 5.1.
(6)
Question 6
A rare form of rickets in humans is caused by a sex-linked dominant allele (R)
which is carried on the X-chromosome. An affected female, whose father was
unaffected, married an unaffected male.
6.1 Determine the possible genotypes and phenotypes of their offspring by
representing a genetic cross. (8)
6.2 What is the percentage chance that they have a child who is an unaffected
male? (2)
6.3 Explain why this disorder, although it is sex-linked, does NOT affect males
only. (2)
Question 8
The diagram on the next page shows three generations of guinea pigs. The
squares represent males and the circles represent females. Individuals
represented by shaded symbols have black fur, those represented by non-
shaded symbols have white fur. Black fur (P) is dominant over white fur

10.

8.1 Write down the genotypes of the individuals numbered 1,2,3 and 5. (5)
8.2 What percentage of the offspring numbered 7, 8, 9 and 10 do you expect to
be heterozygous for hair colour? (1)

Question 9
62
9. 1 What is the term given for a genetic cross involving two charactyeristics
(1)
9.2 Give the:
(a) Dominant phenotype for flower colour. (1)
(b) Phenotype of a plant that is heterozygous for flower colour and
homozygous dominant for plant height. (2)
Question 10

Question 11
Read the passage below that gives information in order to draw a family tree and
answer the questions that follow.
10.1 63

10.2
Anandi and Benito are cousins because Anandi’s mother, Cindi, and Benito’s
mother, Denise, are sisters. Cindi and Denise were the daughters of Ignatius and
Johlene, with whom Ignatius had an extra-marital relationship. They also had a
first-born brother, Ralph, who died three days after his birth. Cindi and Denise
never knew their mother.
Anandi’s father is Erich and his mother and father are Quinta and Paul. Benito’s
father is Fritz while Olivia and Nigel are Fritz’s parents. Anandi was a single child.
Benito has a brother, Gysbert, and a sister, Heather.

11.1 Use the information below as well as the symbols below to construct
a family tree.

Normal Male Albino Male

Normal Female Albino Female

Anandi and Benito fall in love but heard that genetically it is not desirable to
marry close family. They could not really determine why not, and as they
themselves, their other cousins, their parents and grandparents all appeared
normal without any diseases or abnormalities, they decided to get married.
From their marriage , a beautiful girl, Kylie, was born. Two years later, a cute little
boy, Leo, was born, but he was an albino. The couple was surprised and starts
searching their ancestors. And tried to trace their grandmother Johlene (whom
they never knew). Ignatius had already passed away. During this period their
second little girl, Myra, very cute, but once again an albino, was born.
Anandi and Benito now started to do serious investigation to find out the
following:
Kylie, Heather, Gysbert and Ignatius were all carriers of the gene for
albinism.
Olivia, Nigel, Quinita and Paul were all normal and did not carry the albino
gene.

64
 (8)

65
66
CHIEF MARKERS REPORT FEEDBACK FROM NOVEMBER 2023 Paper 2

67
When describing an individual who does not have the disease, we do not
call them normal. E.g. A male without haemophilia NOT a normal male

CHIEF MARKERS REPORT FEEDBACK FROM NOVEMBER 2024 Paper 2

68
69
70
71