CHAPTER 5: GENETICS AND INHERITANCE

Introduction
This section will build on what you have learnt about DNA, protein synthesis, meiosis
and sexual reproduction and to help you understand how genetic characteristics e.g.
physical structure, is passed down from generation to generation.
 Genetics is the study of heredity – 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.

Key terminology
passing of hereditary characteristics from parent to
hereditary
offspring
filial generation (F1) offspring of parent organisms
locus the exact position (location) of a gene on a chromosome
techniques used to change the genetic material of a cell or
genetic engineering
living organism – a form of biotechnology

Concepts in inheritance

Table 1 below provides further definitions and explanations of key terms that you
must know very well.

Table 1: Terms, their explanation and supporting diagrams and notes.

a segment of DNA in
a chromosome that gene
gene contains the code for
a particular
characteristic

DNA

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 different forms of a
gene which occur at
dominant allele (T) – tall plant
alleles the same locus on
recessive allele (t) – short plant
homologous
chromosomes
genetic composition of alleles
genotype
an organism
T T
the physical  homozygous
appearance of an dominant (both
phenotype organism based on
alleles are
the genotype, e.g. tall,
dominant)
short
an allele that is  genotype TT
expressed (shown) in  phenotype – tall
the phenotype when
dominant  homozygous
found in the t t
allele recessive (both
heterozygous (Tt) and
homozygous (TT) alleles are
condition recessive)
an allele that is  genotype tt
masked (not shown)  phenotype –
in the phenotype short
when found in the
recessive  heterozygous
heterozygous (Tt)
allele
condition; only T t (one dominant
expressed in the and one
homozygous (tt) recessive allele)
condition  genotype Tt
two different alleles  phenotype - tall
heterozygous for a particular
characteristic, e.g. Tt
two identical alleles
for a particular
homozygous
characteristic, e.g. TT
or tt

only one
characteristic or Flower colour only, e.g. yellow or white flower
monohybrid
trait is shown in – OR – shape of seeds only, e.g. round seeds
cross
the genetic or wrinkled seeds
cross
two different
Example: flower colour, e.g. yellow or white
characteristics
dihybrid cross flower – AND – shape of seeds, e.g. round
shown in
seeds or wrinkled seeds
genetic cross

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 a genetic cross - the allele for tall (T)
is dominant over the Tall (TT) x short (tt)
where the
dominant allele allele for short (t)
complete masks the - offspring will be tall
dominance expression of a because the dominant
recessive allele allele (T) masks the
in the heterozy- expression of the
gous condition recessive allele (t) Tall (Tt)
cross between red × white flower
two phenotyp-
a red-flowered plant is
ically different
crossed with a white-
parents prod-
flowered plant – with
incomplete uces offspring
incomplete domi-
dominance different from
nance, offspring will
both parents but
have pink flowers -
with an inter- pink flowers
intermediate colour.
mediate
phenotype

red-flowered plant is red × white flower

cross in which crossed with a white-
both alleles are flowered plant – with
co-dominance expressed co-dominance, the
equally in the offspring has flowers
phenotype. with red and white flowers with red and
patches white patches
more than two blood groups are controlled by three alleles,
alternative namely IA, IB and i.
multiple
forms of a gene
alleles all three alleles are present in a population, but
at the same an individual can only have two alleles
locus

Some examples: haemophilia and colour-

blindness - alleles for haemophilia (or colour-
blindness) are indicated as superscripts on the
traits that are
sex chromosomes, e.g. XHXH (normal female),
sex-linked carried in the
XHXh (normal female), XhXh (female with
characteristics sex
haemophilia), XHY (normal male), XhY (male
chromosomes
with haemophilia).
Both haemophilia and colour blindness are
caused by recessive alleles.

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 the number,

chromosomes
shape and
arrangement of
the
karyotype
chromosomes
in the nucleus
of a somatic
cell

process by which Dolly the sheep was cloned using a

genetically identical diploid cell from one parent; therefore, it
cloning
organisms are formed had the identical genetic material of that
using biotechnology parent
manipulation of the An example: insertion of the human
genetic genetic material of insulin gene into the plasmid of bacteria
modification an organism to get so that the bacteria produce human
desired changes insulin

mapping of the exact

Example: haemophilia is the last gene on
position of all the
human the X chromosome; gene number 3 on
genes in all the
genome chromosome 4 is responsible for a
chromosomes of a
particular characteristic
human
a set of one maternal and one paternal chromosome that pair up
with each other inside a cell during meiosis – homologous
chromosomes are the same size and shape, and carry the same
or similar alleles

allele for purple flowers

homologous
pair of
chromosomes homologous pair
locus for flower-colour gene of chromosomes

allele for white flowers

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Activity 1: Traits, genes and alleles
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 Phenotype Alleles

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)

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Mendel as father of genetics

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.
These traits were (see Table 2):
 seed shape
 seed colour Figure 1: Gregor Mendel
 pod shape (pod – the container holding a plant’s
seeds)
 pod colour
 flower colour
 flower position (whether axial – on the side, or terminal – on top)
 stem length

Table 2: Traits compared by Mendel

Seed Pod Flower Size
shape colour shape colour position colour

round purple
yellow
full green axial tall

short

wrinkled white
green
yellow terminal
constricted

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Mendel’s Experiments

 Mendel noticed that garden peas occur in at least two heights – tall (T) and
short (t)
 Since peas are self-pollinating, tall peas tend to produce tall peas, and short
peas produce short peas.
 Mendel’s first genetic cross involved tall peas cross-pollinated with short peas
 The result: in the first group of offspring (the F1 generation), the cross yielded
only tall peas
 Mendel then took the F1 peas and crossed them with themselves
(interbreeding) to produce a second group of offspring (an F2 generation)
 The result: tall and short peas, in a ratio of 3:1 (3 tall: 1 short or dwarf)

This experiment of Mendel’s may be illustrated in the diagram as in Figure 2 below.

Parental
generation

TT tt

T t
Tt
F1
generation

Genotype all are Tt

..
Phenotype all are tall
Tt Tt

T T
t TT t
Tt Tt
tt
F2
generation

Genotype TT : Tt : tt = 1 : 2 : 1
Phenotype Tall : Dwarf = 3 : 1
TT Tt Tt tt
Figure 2: A genetic cross between a tall pea plant and a short (dwarf) plant

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Mendel’s Laws of Inheritance

Mendel formulated the following laws from his experiments.

Mendel’s First Law of Inheritance: Law (principle) of Segregation

 Each trait is controlled by two factors (now known as alleles) situated on

homologous chromosomes.
 When gametes form during meiosis, the two factors (alleles) are separated or
segregated. A gamete contains one of the two factors (alleles) from each
parent.

Mendel’s Second Law of Inheritance: Law of Dominance

 Certain alleles of a gene exist in either a dominant or a recessive form.
 If the pair of alleles are different (one dominant, one recessive), the
phenotype will only show the dominant trait.

Mendel’s Third Law of Inheritance: Law (principle) of Independent

Assortment

 Due to random arrangement of chromosomes at the equator during meiosis

(gamete formation), any one of the two alleles of ONE characteristic can sort
with any one of ANOTHER characteristic.
 The alleles of different genes move independently of each other into the
gametes. They can therefore appear in the gametes in different combinations.

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

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  F stands for the offspring (Filial generation) – remember F for Family.
F1 generation is the first filial generation, F2 the second.

Genetic crosses

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.

Layout of a genetic diagram Explanation

Visible trait is
P1 Phenotype ……………... x ………………… the phenotype
Genotype ……………… x ………………… e.g. tallness,
Meiosis shortness, etc.
Gametes ……………… x ………….…….. 
The genetic
make-up of the
Fertilisation individual is its
genotype e.g.
F1 Genotype ………………………………………….. TT or Tt or tt

Phenotype ………………………………………….. The alleles

segregate (or
P1 and F1  separate) during
Meiosis and fertilisation meiosis to form
OR gametes. Each
gamete has only
P1 Phenotype ……………... x ……………… one copy of
Genotype …………… x ……………… each allele
Meiosis Gametes ……………… x ……….……..  During fertili-
sation the indi-
Fertilisation Gametes vidual gets one
allele of the
gene form each
parent
The matrix box
F1 Phenotype ………………………………………..
used to deter-
Genotype ………………………………………..
mine the results
of fertilisation is
P1 and F1 
called a Punnet
Meiosis and fertilisation
square

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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)

You need to read genetics questions with great care to find the clues concerning:
 which characteristic (phenotype) is being examined, e.g.: shape of seeds
 which allele of the pair is dominant, e.g.: round
 whether the parents are homozygous or heterozygous for the characteristic:
e.g.: both are heterozygous
 what letters are to be used (are they given OR must you choose letters), e.g.:
R (dominant allele) and r (recessive allele)
 show how the alleles are separated during meiosis to form gametes
 show all the possible ways the sperm and egg can combine during fertilisation
 distinguish the phenotypes from the genotypes

Monohybrid crosses

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

The following monohybrid crosses are dealt with:

 monohybrid crosses with complete dominance
 monohybrid crosses with incomplete dominance
 monohybrid crosses with co-dominance
 sex determination
 inheritance of sex-linked diseases
 multiple alleles e.g.: blood grouping

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.

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Genetic problem 1
Seeds can be round or wrinkled. Use a genetic cross to show the genotype and the
phenotype of the F1 generation when two heterozygous plants with round seeds are
crossed. The allele for round seeds is dominant over the allele for wrinkled seed.
Use the letter R for round and r for wrinkled seeds.

P1 Phenotype Round seeds x Round seeds

Genotype Rr x Rr
Meiosis
Gametes R r x R r

Fertilisation

F1 Genotype RR Rr Rr rr

Phenotype round round round wrinkled

seeds seeds seeds seeds

OR

P1 Phenotype round seeds x round seeds

Genotype Rr x Rr
Meiosis
Gametes R r x R r

Fertilisation Gametes R r
R RR Rr
r Rr rr

F1 Phenotype round round round wrinkled

seeds seeds seeds seeds
Genotype RR Rr Rr rr

Genotypic Ratio : 1RR : 2Rr : 1rr (1:2:1)

Phenotypic Ratio: 3 Round seeds: 1 Wrinkled seed (3:1)

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  A cross between two heterozygous (Rr) parents produces 25% homozygous
dominant (RR), 50% heterozygous (Rr) and 25% homozygous recessive (rr)
offspring. As such, the phenotypic ratio is 3 dominant : 1 recessive.

Activity 2: Monohybrid crosses with complete dominance

1. Mendel crossed homozygous plants with green seeds with homozygous

plants which had yellow seeds and found that all the offspring were yellow
(Figure 3). Construct a genetic diagram (using the above template) to show
the F1 and F2 generations.
Choose a letter for each allele. Note: use one letter: capitalised for the
dominant allele and small (lower-case) for the recessive allele. (6 + 6)

P1

homozygous homozygous
yellow line green line

F1

F2

Figure 3: Monohybrid cross showing inheritance of seed colour

2. The ability to roll one’s tongue (Figures 4 and 5) is a dominant characteristic.

Explain (without a genetic diagram) why it is possible for a non-roller child to
be born to parents who can both roll their tongues. Use the letters R and r in
your answer. (3)

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 Figure 4: Tongue-roller Figure 5: Non-roller
(15)

Monohybrid cross with incomplete dominance

Incomplete dominance is a cross between two phenotypically different parents where

no allele of the gene is either dominant or recessive. The offspring is different to
both parents and the alleles blend to form a new phenotype.
The following problem represents a genetic cross which shows incomplete dominance:

Genetic problem 2

A homozygous red-flowering plant crossed with a homozygous white- flowering plant

will produce plants that have pink flowers (Figure 6).

Complete a genetic diagram to show how this is possible using the letter R for red
and W for white.

P1 Phenotype Red x White

Genotype RR x WW
Meiosis
Gametes R R x W W

Fertilisation Gametes R R
W RW RW
W RW RW
F1 Genotype RW RW RW RW

Phenotype All Pink

The characteristic being investigated is flower colour; the alleles are red (R) and
white (W).

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The genotype of the parents will be RR and WW as they are homozygous where
both alleles for the gene are the same.
The fact that the offspring have a new phenotype pink which is formed from red and
white, tells you that there is no dominant or recessive allele.

Figure 6: Monohybrid cross with incomplete dominance

Activity 3: Monohybrid cross with incomplete dominance

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. 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)

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Monohybrid crosses with co-dominance

In co-dominance both alleles of the gene are equally dominant so both will be
expressed equally in the phenotype of the offspring.
The following problem represents a genetic cross which shows co-dominance:

Genetic problem 3
In cattle three colour variations are possible (Figure 7): red, white or red and white in
patches. This comes about due to a red allele (R) and a white allele (W) for coat
colour. Do a genetic cross between a red bull and a white female to show the
possible offspring.
P1 Phenotype Red coat x White coat

Genotype RR x WW
Meiosis
Gametes R R x W W

Fertilisation Gametes R R
W RW RW
W RW RW
F1 Genotype RW RW RW RW

Phenotype All red with white patches

Figure 7: Co-dominance in cattle showing 3 coat colours

The characteristic being investigated is coat colour which is controlled by two alleles
R and W. The F1 offspring show both phenotypes together so this is co-dominance.
The offspring will have a genotype of RW which is red and white patches.

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Do this cross for yourself, and then cross two of the F1 offspring to see what the
possibilities would be in the F2 generation.

Note: Inheritance of blood groups is also partly an example of co-dominance when

the alleles IA and IB are involved. This will be dealt with later.

Sex determination

The following problem represents a genetic cross which shows inheritance of sex

Genetic problem 4:
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

P1 Phenotype Male x Female

Genotype XY x XX
Meiosis
Gametes X Y x X X

Fertilisation Gametes X Y
X XX XY
X XX XY

F1 Genotype XX XX XY XY
2 (XX) 2(XY)
Phenotype Female (50%) Male (50%)
Phenotypic
ratio 1:1

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.

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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.

Karyotype 1:

1 2 3 4 5 6 7 8

9 10 11 12 13 14 15 16

17 18 19 20 21 22 23

Karyotype 2:

1 2 3 4 5 6 7 8

9 10 11 12 13 14 15 16

17 18 19 20 21 22 23

Figure 8: Female and male karyotypes

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.

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Sex-linked inheritance

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
ear

 A person is colour-blind if unable to tell different colours apart. For example,

red-green colour-blindness is caused by an 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 Normal female
XHXh Normal female (carrier)
XhXh Haemophiliac female
XHY Normal male
XhY Haemophiliac male

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Table 4: Inheritance of colour-blindness

Genotype Phenotype
XBXB Female with Normal vision
XBXb Normal Female (carrier)
XbXb Colour-blind female
XBY Normal male
XbY 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.

Activity 4: Sex-linked diseases

1. Haemophilia is a sex-linked disease caused by the presence of a recessive
allele (Xh).
A normal father 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)

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

haemophilia and colour-blindness. Unless stated otherwise, follow the same
format as in haemophilia and colour-blindness.

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 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 eventually respiratory failure.

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 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)
(20)

Multiple alleles – blood type / group

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) these three alleles as they are very specific to
blood groups namely IA, IB or i.

IA is co-dominant to IB whereas i is recessive to both. The genotypes for each blood

group can then be specified as follows:

Genotype Blood group

IA IA A
IA i A
IB IB B
IB i B
IA IB AB
ii O

Use of blood groups in paternity testing

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

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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.

P1 Phenotype Blood group B x Blood group B

Genotype IBi x IBi
Meiosis Gametes IB i x IB i

Fertilisation

F1 Genotype IBIB IBi IBi ii

Phenotype 3 Blood group B : 1 Blood group O
OR
P1 Phenotype Blood group B x Blood group B
Genotype IBi x IBi
Meiosis Gametes IB i x IB i
Fertilisation
Gametes IB i
IB IB IB IBi
i IBi ii

F1 Phenotype 3 Blood group B : 1 Blood group O

Genotype IBIB IBi IBi ii

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)

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 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? (3)
(15)

Dihybrid crosses

Dihybrid crosses involve two pairs of alleles representing two different 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

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  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

 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
Gametes TP Tp tP tp
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.

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Activity 6: Dihybrid crosses
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 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)

Genetic lineage (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 Figure 10 (see next page) shows inheritance of eye colour
in humans over three generations of a family. Brown eye colour (B) is dominant over
blue eye colour (b).

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 Joshua Ronel

Sarah Peter Veronica

Marlena Frank Jack John Gayle

Male with blue eyes Female with blue eyes

Male with brown eyes Female with brown eyes

Figure 10: Pedigree diagram

 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:

 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.
o 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).

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 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: Pedigrees

1. The pedigree diagram below shows the inheritance of colour-blindness (also

called Daltonism) in a 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

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 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)
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)

Father Mother

Normal male Normal female

Affected male Affected female

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).

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 1 2 3 4

5 6 7 8 9 10 11

12 13 14

Male Female – have dimples

Male Female – no dimples

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)

Mutations

A mutation is caused by a permanent change to the DNA of a cell. Mutations can be

harmless, harmful or useful.

Harmless mutations mostly

 involve changes to the non-coding DNA (which makes up 98,5% of the DNA).
 This DNA is not involved in making proteins.

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  It does not affect the structure or functioning of the cell/organism.
 Examples: freckles, blonde hair, baldness.

Harmful mutations
 change the DNA responsible for the production of a specific protein.
 This would cause changes to the organism’s physical appearance or
functioning due to an incorrect / defective protein being made.
 may cause a genetic disorder. Examples will be discussed below.

Useful mutations
 also change the DNA responsible for the production of a specific protein.
 If the protein made increases the organism’s chance of survival, it would be
seen as a useful mutation.
 If the gene is passed on, it will lead to genetic variation that is advantageous
to the individual.
 Genetic variation is important to the processes of natural selection.
 In natural selection, organisms with traits that allow them to survive in the
environment are more likely to pass on their genes.
 Natural selection (which will be discussed in chapter 9) is responsible for
these mutations either being passed on to the future generations or not.

Mutations can occur in genes or chromosomes.

Gene mutations

Gene mutations occur during replication if a base pair is added, left out or doubled
up. This changes the sequence of bases in DNA. Examples of gene mutations are
haemophilia, colour-blindness, sickle cell anaemia, albinism.
 Haemophilia and colour blindness are sex-linked gene mutations on the X-
chromosome.
 Sickle cell anaemia is an autosomal disease common in Central Africa, India
and South America. It is caused by a gene mutation which results in a faulty
haemoglobin molecule being formed. The red blood cells which are made
have a half-moon shape (hence the term ‘sickle’). Not only can these cells not
carry enough oxygen (resulting in anaemia), but the shape means that the
cells stick to each other blocking small capillaries. This causes damage in
organs such as the brain and kidneys.

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  Albinism is a rare group of genetic disorders which results in a lack of the
pigment melanin. It is caused by a recessive gene mutation which prevents
the normal development of colour in skin, hair or eyes.
Unfortunately, there are many prejudices towards albinos. They are often
portrayed as villains in movies, are regarded as bringing bad luck, and are at
times murdered for their body parts.
Albinos have weak eyes that are light sensitive and have a very light skin that
is susceptible to skin cancer. They are perfectly normal in all other respects.

Chromosome aberrations

Chromosome aberrations occur during Anaphase I if the chromosomes of a bivalent

do not separate. Both chromosomes go to the same pole, and thus the chromosome
number of the gametes changes. An example of a chromosome aberration is Down
syndrome.

Down Syndrome was discussed in Chapter 2 under abnormal meiosis. During

Anaphase I / II, the non-disjunction of chromosome pair 21 will lead to the formation
of a gamete with an extra (or one less) chromosome number 21. If this gamete fuses
with a normal gamete, zygote with 3 (or only 1) chromosomes number 21 will form.

Non-disjunction of
chromosome 21

Female gametes

Male gametes

Possible zygotes

Figure 11: Punnet square showing chromosome aberrations

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Biotechnology

For centuries, humans have used artificial selection to breed the best food crops, farm
animals and pets (think of all the different varieties of dogs that exist today). With
modern science, however, humans can manipulate the actual DNA of organisms.
Biotechnology is the use of organisms (e.g. bacteria) or biological processes to improve
the quality of human life, as 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

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:

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 1. Isolate gene to make 2. Cut open bacterial
insulin from a healthy DNA (plasmid) using
pancreas cell – cut out other restriction
using enzymes. enzymes.

3. Insert the chosen gene

into the plasmid and attach
each end using enzymes.
4. The bacterium is now
genetically modified and will
bacterial produce the desired protein
chromosome (e.g. insulin).

5. Bacterium can now be

cultured to form many more
bacteria which can act as
factories (e.g. to produce
insulin)

Figure 12: Recombinant DNA process

Advantages of genetically modified 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.
 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.

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  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.

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:

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 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.

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.

Figure 13: Dolly Figure 14: Futhi

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Note: IVF (invitro fertilisation) is not cloning as a sperm and an egg are used to form
an embryo. The embryo is genetically different to either of the parents.

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.
 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 15 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 sheep A and will grow into
an embryo.
Figure 15: Cloning a sheep

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  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.

Activity 8: Biotechnology
1. Read the section of an article below taken from www.greens.org.

In the 1950’s, the media were full of information 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 benefit in the short-term is
overwhelmed by long-term disasters.
As more human genes are being inserted into non-human organisms to create
new forms of life that are genetically partly human, new ethical questions arise.
What percent of human genes does an organism have to contain before it is
considered human?
The Chinese are now putting human genes into tomatoes and peppers to make
them grow faster. You can now be a vegetarian and a cannibal at the same time!
What about the mice that have been genetically engineered to produce human
sperm? How would you feel if your father was a genetically engineered mouse?
http://www.greens.org/s-r/20/20-01.html

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)
(15)

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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.

Figure 16: Movement of early Hominins (Out of Africa Hypothesis)

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