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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Note: Studies into the DNA on the Y chromosome have traced the most likely
common male ancestor (“Nuclear Adam”) to a male who lived approximately 60 000
years ago.

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

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