SSIP April - May 2022

Life Sciences
Topic(s) :Genetics & Inheritance
Venue:
 

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 SSIP AIMS/GOALS
The four interconnected outcomes that drive the professional development
activities for SSIP are:
1. Enhancing Teachers knowledge: deep understanding of subject matter
knowledge and students ideas on the content
2. Enhancing quality teaching and assessment for learning: effective instructional
approaches that teachers may use to ensure improved understanding by most
learners.
3. Developing ICT integration skills :Use of ICT to improve teaching and learning
4. Building professional learning communities: allow teachers to start collaborating
and form professional networks in non-formal settings in context of their schools

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 MODULE 1

Overview of Module 1
In this module we will look at the basic concept of genetics
Content
You will study this module through the following units:
Unit1: How do we take images from past papers and use it in our own worksheets
and/or question papers?
Unit 2: How do we teach terminology and what are the different kind of
monohybrid crosses?
Unit 3: What are sex linked diseases and how do we determine sex?
Unit 4: What are the different blood groups and the genetics behind it?
Unit 5: What are dihybrid crosses and how do we solve it?
Unit 6: What are pedigree diagrams and how do we solve it?
Unit 7: What are mutations and genetic engineering and what are the
applications of this?
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 OUTCOMES OF THIS MODULE
By the end of the session, participants will be able to:

• Be able to take a diagram from pdf document, modify it and insert it into
new document.
• Solve monohybrid crosses for complete, incomplete, co-dominance, sex-
linked diseases and blood groups.
• Calculate ratios and percentages of the genotype and phenotype of the
F1 and F2 generations.
• Solve dihybrid crosses.
• Read and solve pedigree diagrams
• Classify questions on the different levels of Bloom’s taxonomy and
degrees of difficulty.
• Administer and assess the gr.12 SBA task on genetics.
• Answer questions on mutations and genetic engineering.
• Introduce genetics as a topic in a fun way to learners.

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 UNIT 1 - How do we take images from past papers and use it in our own worksheets and/or questions papers?

Refer to page 15 in your participants manual.

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 Step 3: Click on snapshot

Step 4: Highlight the diagram

Step 5: Open Paint on your computer

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Step 5: Open Paint on your computer

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Step 6: Click on Paste
You can do many things with this program.
you can add a shape, colour in certain parts.
You could rotate it and type in labels and add label lines.
All you have to do is click on the icon in the toolbar.

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Step 7: Now you can make the desired changes.
Say for example we are only interested in the head
of the frog. and highlight the head.
Click select, rectangular

Then move the selection to the side

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Step 8: There is a line, rub the line out with the rubber.
Select the rubber and rub the line out.

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Step 9: Select the head and click on copy

Step 10: Go to the document where you want to insert the diagram
(head) and paste it in the position where you want it

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 Activity 1.1
Select a diagram or graph from a question paper. Insert it into
paint.
Make any changes on the diagram and paste it onto a word
document (or blank word page).

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 Exam Guidelines/ATP
GENETICS AND INHERITANCE Term 1 & 2 3½ weeks
Paper 2: 48 marks
   
CONTENT ELABORATION
Introduction  Mention of Mendel as the ‘father’ of genetics
Concepts in  Chromatin and chromosomes
inheritance  
   Genes and alleles
 
 Dominant and recessive alleles
 
 Phenotype and genotype
 
 Homozygous and heterozygous
 
 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.

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 Terminology Concepts
commonly
confused and
used
Chromatin vs Chromosomes interchangeably

Genes vs Alleles
Dominant allele vs Recessive allele
Phenotype vs Genotype
Homozygous vs Heterozygous

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 Terminology
Allele: alleles are alternate forms of a gene localised on the same locus on
homologous chromosomes.

If alleles of the same characteristic are both the same, the organism will be
homozygous for that characteristic. If the alleles for a characteristic are different
the organism is described as heterozygous for that characteristic.
 Mendel’s Laws of Inheritance 1st law
most
frequently
asked
1.Mendel’s first Law of Inheritance: Law
(principle) of Segregation

2. Mendel’s Second Law of Inheritance:

Law of Dominance

3. Mendel’s Third Law of Inheritance:

Law (principle) of Independent
Assortment

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 Exam Guidelines/ATP
CONTENT ELABORATION
Monohybrid  Format for representing a genetics cross
crosses  

   Mendel's Principle of Segregation –An organism possesses two ‘factors’

which separate or segregate so that each gamete contains only one of
these ‘factors’
 
 Types of dominance:
 Complete dominance – one allele is dominant and the other is recessive,
such that the effect of the recessive allele is masked by the dominant
allele in the heterozygous condition
 Incomplete dominance – neither one of the two alleles of a gene is
dominant over the other, resulting in an intermediate phenotype in the
heterozygous condition
 Co-dominance – both alleles of a gene are equally dominant whereby
both alleles express themselves in the phenotype in the heterozygous
condition
 
 Genetics problems involving each of the three types of dominance
 
 Proportion and ratio of genotypes and phenotypes

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‘The recipe’ of a Genetic Cross
The visible trait is the phenotype e.g.
tallness, shortness

The genetic make-up of the individual is it’s

genotype e.g. TT or Tt or tt

The alleles segregate (separate) during

meiosis to form gametes

During fertilization the individual gets

one allele from each parent

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‘The recipe’ of a Genetic Cross

Remember that by
writing P1 and F1 &
meiosis and
fertilization in the
correct sequence you
can get 2 marks

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 Types of inheritance
 Monohybrid cross Remember: you get
two marks if you
just write down the
 Complete dominance “recipe” when
doing any of these
crosses
 Incomplete dominance

 Co-dominance

 Sex-linked

 Dihybrid cross

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Steps in solving monohybrid genetic problems
1. Determine the dominant characteristic. Remember:
these are
2. Determine the key i.e. symbol/letter to be used. normally
3. Determine the phenotypes and genotypes of the provided in
the question
parents.
4. Determine the genes of each gamete after meiosis
5. Determine the alleles of the zygote after fertilization –
F1 - genotype
6. Describe the phenotypes of the F1- generation
Steps in solving monohybrid genetic problems

P1 Generation

F1 Generation
Complete dominance

Only one parent’s

phenotype is evident
in the offspring
 

One of the alleles is dominant over the other, and this

phenotype is seen in all the offspring
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 Incomplete dominance vs Co-dominance
Red (RR) White (WW) Red (RR) White (WW)

X X

Neither of the
parents’ Both of the
phenotypes is parents’
evident in the phenotypes are
offspring evident in the
offspring
Red and
Pink (RW)
white (RW)  
Neither of the alleles is dominant over the other, an Both alleles (equally dominant) are expressed in
intermediate phenotype is formed phenotypes of the offspring
 Activity 1.4
In certain marine invertebrates the colour of the shell is under the control of one gene with three alleles.
In different combinations, the three alleles produce four phenotypes: orange, yellow, orange-yellow and
black.

The table below shows the results of the offspring produced from crosses involving parents of different
phenotypes.
CROSS PHENOTYPES OF SHELLS
  PARENTS OFFSPRING
1 Yellow x yellow 27 yellow: 9 black
2 Black x black All black
3 Orange x orange 30 orange: 10 black
4 Orange x yellow All orange- yellow

1. Name and describe the type of dominance shown by cross 4. (3)

2. Which shell colour is controlled by the recessive allele? (1)
3. Use information in the table to support your answer to QUESTION 2. (2)

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 Answers: Activity 1.4
1. Co-dominance 
- The phenotypes/alleles of the parents are equally dominant  (orange and yellow)
- and are both expressed in the phenotype of the offspring 
2. Black 

3.
- In cross 1 both parents are yellow/ none of the parents are black
- But black appears in the phenotype of the offspring 
OR
- In cross 3 both parents are orange  /none of the parents are black
- but black appears in the phenotype of the offspring 
OR
- The ratio of the offspring in cross 1 ( yellow and yellow/ cross 3 (orange and orange) is 3
yellow/orange:1 black 
- The smaller proportion represents the recessive allele/black 

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Activity 1.5 ‘Reebops’

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 Exam Guidelines/ATP
CONTENT ELABORATION
Sex determination  22 pairs of chromosomes in humans are autosomes and one pair
  of chromosomes are sex chromosomes/gonosomes
 
 Males have XY chromosomes and females have XX
chromosomes
 
 Differentiate between sex chromosomes (gonosomes) and
autosomes in the
karyotypes of human males and females
 

 Representation of a genetic cross to show the inheritance of sex

Sex-linked  Sex-linked alleles and sex-linked disorders
inheritance  

   Genetics problems involving the following sex-linked disorders:

 Haemophilia
 Colour-blindness
Blood grouping  Different blood groups are a result of multiple alleles
   
 The alleles IA, IB and i in different combinations result in four blood
groups
 
 Genetics problems involving the inheritance of blood type

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 Sex Determination
Karyotype

Autosomes

Gonosomes – XY
 Sex Determination
Karyotype

Autosomes

Gonosomes – XX
 There is a 50% SEX DETERMINATION
chance of having a
boy and a 50%
chance of having a
girl
 Sex-linked disorders
 Genes located on a sex chromosome are called sex-inked genes.
 In humans the term usually refers to X-linked characteristics:
genes located only on X chromosomes.
 Fathers can pass X-linked alleles to their daughters, but not sons.
 Mothers can pass sex-linked alleles to both sons and daughters.
Inheritance of haemophilia

 The father can only pass the affected

allele to his daughters

 The mother can pass the affected allele

to both her sons and daughters
 Colour Blindness
Normal colour vision

Normal allele
Allele for colour
blindness
Normal female who carries Normal male
the colour blind allele

Red-green confusion Colour

blindness

Normal female Normal female who carries Normal male Colour blind male
the colour blind allele
 Activity 1.6

4.1. Haemophilia is a genetic disorder caused by

a recessive allele on the X chromosome.
A haemophilic female marries a normal male.
Explain why all their sons will be haemophilic.
 Answers Activity 1.6
• An individual inherits one allele from each parent 
• The Y-chromosome was inherited from the father 
• And the recessive allele was inherited from the mother 
• Since the mother has two recessive alleles 
• A son only needs to get one recessive allele to be haemophiliac
• Since the Y-chromosome does not carry any allele to mask the
haemophilia allele 
 Activity 1.6

Colour blindness is a genetic disorder caused by a

recessive allele on the X chromosome.
• A Colour blind man marries a normal vision
woman who does not carry the allele for
colour blindness.
• Do a genetic cross to show the possible
genotypes of their children. Use B for normal
vision and b for colour blindness. (6)
 
 Answers Activity 1.6
P1 Phenotype Colour blind man x Normal female
Genotype XbY x XBXB
Meiosis
Gametes Xb Y XB XB

Fertilization Xb Y
XB XB Xb XB Y
XB XB Xb XB Y

F1 Genotype: XB Xb ; XB Xb ; XB Y ; XB Y
Phenotype 2 normal females, 2 normal males
 Blood Groups 1-2-3-4 Rule of blood
1. An individual has one
blood group
 The inheritance of blood groups is an example of multiple alleles 2. An individual has two
 The notation for alleles indicating blood groups is only IA; IB and i alleles for their blood group
 different combinations of the alleles result in four blood groups 3. There are three
different alleles controlling
blood groups
4. There are four blood
groups

Complete dominance

Complete dominance

Co-dominance

Complete dominance
 Activity 1.7
Mr. and Mrs. Phonela are concerned that their baby girl does not appear to resemble either of them.
They suspect that the baby they were given at the hospital was not theirs. Mr. Phonela is blood type AB,
Mrs. Phonela is blood type B and the baby they were given is blood type O.
2.3.1 Give the possible genotypes of:
(a) Mrs. Phonela (2)
IB IB / IB i P
(b) The baby girl (1)
iiP
2.3.2 Explain why the baby girl with blood type O cannot be Mr. and Mrs. Phonela's daughter. (3)
The baby inherited one allele for type O blood/i
from each parent P since - her genotype is iiP
- Mr Phonela does not have an allele for O blood/i P
 Activity 1.7
2.3.3 Explain why the use of blood type for paternity testing is not conclusive. (2)
Blood type can be used to exclude a particular manP as the parent, but it cannot confirm
that a particular man is the fatherP Since a large portion of the population have the same blood typeP

2.3.4 Using your knowledge of sex chromosomes, explain why the sex of a child is determined by
the male gamete. (5) (13)
- Normal females have two XP chromosomes
- Normal males have one X and one Y P
- The female always provides X in the ovum P
- If an ovum is fertilized by an X bearing sperm P
a female/girl Pis formed
- If an ovum is fertilized by a Y bearing sperm P
- a male/boyP is formed (Any 5)
 Activity 1.7
A man with blood group AB and a woman who is heterozygous for
blood group B plan to have children.
1. How many alleles control the inheritance of blood (1)
groups?
3/three
2. Describe the type of dominance that occurs in the
inheritance of blood group B in the woman. (3)
 complete dominance
 the allele for blood group B/IB is dominant and
 the allele for blood group O/i is
 recessive

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 Activity 1.7
3. Use a genetic cross to show all the possible genotypes and phenotypes of their children. (6)
P1 Phenotype Blood group AB x Blood group B
  Genotype IA IB x IBi 
Meiosis      
  G/gametes IA , IB x IB , i 
     
Fertilization
 
F1 Genotype IA IB; IAi; IBIB; IBi *
     
  Phenotype Blood group:

AB; A; B*
P1 and F1      

Meiosis and fertilization  2 compulsory* + Any 4

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 Exam Guidelines/ATP
CONTENT ELABORATION
Dihybrid  Mendel's Principle of Independent Assortment – The various ‘factors’
crosses controlling the different characteristics are separate entities, not influencing
  each other in any way, and sorting themselves out independently during
gamete formation.
 
 Dihybrid genetics problems
 
 Determination of the proportion/ratio of genotypes and phenotypes

Genetic  A genetic lineage/pedigree traces the inheritance of characteristics over

lineages/pedigrees many generations
   
 Interpretation of pedigree diagrams

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 Dihybrid Cross
• This is genetic crosses where two traits are
crossed (two=di)
• Traits are inherited independently
• Mendel’s Law of Independent Assortment
Alleles of a gene for one characteristic
segregate independently of the alleles of a
gene of another characteristic.
• The genes are on different chromosomes.
• When you cross a heterozygous organism
with another heterozygous organism(for
both traits) you will always get the
following phenotypic ratio in the offspring:
9:3:3:1

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 A heterozygous tall plant with yellow flowers is crossed with a heterozygous tall plant with

Diorange flowers. Do a genetic cross to show the possible offspring.

hy
Steps to follow What to do
• Step 1 • Identify the phenotypes of the two organisms
for each of the two characteristics.
bri STEP 1
Tall yellow flowers x Tall orange flowers

d Step 2 Look for the letters that represent each trait in

the questions. In this case it is:
TallSTEP
=(T);2 Short = (t) ; Yellow (Y); orange (y)
Cr Step 3 Write the genotypes of each parent.
forSTEP
this 3question:
os Step 4
TtYy x Ttyy
• Determine the possible gametes that each

s
TtYy x Ttyy parent can produce.
• Remember that each parent will have two
T t T t alleles for each gene.
Y TY tY y Ty ty
STEPgametes
• The 4 of each parent will have only one
y Ty ty y Ty ty
allele for each gene because of segregation
during meiosis.
 Steps to follow What to do

Remember that because of Mendel's principle of

Independent assortment an allele for one gene
could appear in the same gamete with any of the

Dihyb
alleles for the other gene.
STEP 4

rid Step 5 Enter the possible gametes at the top and side of a

Cross Punnett square.

TY ty Ty tY

Ty STEP 5
Ty
ty
ty
Step 6 • Because of random fertilisation, gametes from
both parents could fuse in different combinations
to form the offspring.
• In the Punnet square, write down the genotypes
of the offspring that will result from each possible
combination of gametes.

TY ty Ty tY
Ty STEP
TTYy6 Ttyy TTyy TtYy
Ty TTYy Ttyy TTyy TtYy
ty TtYy ttyy Ttyy ttYy
ty TtYy ttyy Ttyy ttYy

Step 7 Determine the phenotypes of the offspring from the

STEP 7 in the Punnet square.
genotypes obtained
 Example of a dihybrid cross
A guinea pig with black (B), long fur (L) is crossed
with a guinea pig with brown (b), short fur (l).
Both parents are homozygous. The F1 offspring
were interbred, use a diagrammatic cross to
show the genotype and phenotype of the F2
generation and as well as the phenotypic ratio.
 Memo Example:
P2 Phenotype: black and long fur x black and long fur
Genotype: BbLl x BbLl
Meiosis
Gametes: BL, Bl, bL, bl x BL, Bl, bL, bl
Fertilization
F2 genotype:
BL Bl bL bl
BL BBLL BBLl BbLL BbLl
Phenotype ratio Bl BBLl BBll BbLl Bbll
bL BbLL BbLl bbLL bbLl
bl BbLl Bbll bbLl bbll
 Memo Example
Phenotype 9 black long
3 black short fur
3 brown long fur
1 brown short fur
Black long : black short : brown long : brown short
9 : 3 : 3 : 1
 Activity 1.8
In humans, short fingers(F) and a widow’s peak (H) are dominant over long fingers and continuous
hairline. A man and a woman, both heterozygous for the two characteristics, plan on having a child

The table below shows the possible genotypes of the offspring.

 Gametes FH Fh FH fh
FH FFHH FFHh FFHH FfHh
Fh FFHh FFhh FFHh Ffhh
fH FfHH FfHh Ffhh Z
fh FfHh Ffhh FfHh ffhh

1. State the genotype at Z.

(1)
2. Give the:
a) Genotype of the parents (2)
b) Number of genotypes that could result in offspring with short fingers and
a continuous hairline (1)
c) Allele for a continuous hairline (1)
d) Phenotype of a child who is homozygous recessive for both characteristics (2) 52
 Answers Activity 1.8
1. ffHh (1)
2. a) FfHh (2)
b) 3 (1)
c) h (1)
d) Long fingers and continuous hairline  (2)

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 Activity 1.8
1.5 There is variation in the characteristics of fur colour and fur texture in cats.

The Punnett square below shows the inheritance of these alleles in a genetic cross .
 

1.5.1 Name the:

(a) Dominant phenotype for fur colour (1)
(b) Recessive phenotype for fur texture (1)
   
1.5.2 Give the:
(a) Genotype of offspring X (1)
(b) Phenotype of the female parent (2)
(c) Genotype of the male parent (1)
1.5.3 State the phenotype that ALL the offspring of this genetic cross have in common. (1)
(7)
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 Answers Activity 1.8
1.5    
1.5.1 (a) Black fur (1)
  (b) Smooth  texture (1)
     
1.5.2 (a) bbRR (1)
(b) White (fur) with rough(texture)  (2)
(c) BbRr (1)

     
1.5.3 Rough texture (1)
(7)
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 Pedigree diagrams
GENETIC LINEAGES/PEDIGREES

A genetic lineage/pedigree
traces the inheritance of
characteristics over many
generations

Non-haemophilic female Non-haemophilic male

Haemophilic female Haemophilic male

Pedigree diagrams
GENETIC LINEAGES/PEDIGREES

Know the meaning of the

symbols and lines used in
pedigree diagrams
Steps in solving a pedigree diagram
STEPS IN SOLVING A PEDIGREE DIAGRAM
 Study the key
 Look for dominant and recessive characteristics
 Fill in the genotype of the individuals with the recessive condition
 Each individual with the recessive condition inherited one allele
from each parent
 Work backwards and fill in one recessive allele for each parent
 If the parent has the dominant characteristic fill in a capital letter
as the second letter
 Any other individual showing the dominant characteristic is most
likely homozygous dominant – two capital letters
 Example – earlobes
Please note: Unattached earlobes are dominant (F) and Attached earlobes are recessive (f)– complete missing genotypes

ff Ff Ff ff

ff Ff Ff ff Ff ff

Key:

Recessive Male with attached earlobes

Male with unattached earlobes

Recessive Female with attached earlobes

ff Ff
Female with unattached earlobes
EXAMPLE 2- LIPS
The diagram below shows the inheritance of broad/thin lips in humans. Broad lips (B) is
dominant over thin lips(b). Individual 2 is homozygous. Use the letters B and b and
write down the phenotypes and genotypes of the individuals.

Key: Male with broad lips

Male with thin lips

Female with broad lips

Female with thin lips

 Memo Example 2
Complete the following activity in pairs
The diagram below shows the inheritance of broad or thin lips in humans. Broad lips (B) is dominant over thin lips(b).
Individual 2 is homozygous. Use the letters B and b and write down the phenotypes and genotypes of individuals

bb BB
thin broad

Bb Bb bb
Broad Broad Broad

Key:
Male with broad lips

Male with thin lips

Recessive

Female with broad lips

bb Bb bb bb Bb
RecessiveFemale with thin
thin Broad thin thin Broad
 Activity 1.9
.

DBE P2 NOV 2020

2.5 Goltz syndrome is a sex-linked genetic disorder. It is caused by a dominant allele XG. The diagram
below shows the inheritance of Goltz syndrome in a family
2.5.1 Name the type of diagram shown. (1)
   
2.5.2 How many:  
(a) Females are in this family (1)
(b) Males in the F1-generation have (1)
Goltz syndrome
       
2.5.3 Give Gabby's genotype. (2)
2.5.4 Anju and Pilusa have four children. Give
the phenotype of their sons. (2)
2.5.5 Explain your answer to QUESTION 2.5.4.
(4)
(11)

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 Answers Activity 1.9
2.5.1 Pedigree  diagram (1)
2.5.2 (a) 6 (1)
(b) 1 (1)
2.5.3 X G Xg (2)
2.5.4 Unaffected/without Goltz syndrome (2)
2.5.5  Pilusa is affected/XG Y  
 Anju is unaffected/Xg Xg  
 Males inherit the Y chromosome from Pilusa  
 and inherit Xg from Anju
(4)
(11)
     

63
 Activity 1.9
1.1.5 The diagram below shows the pattern of inheritance of a disorder

   

  One can conclude that the disorder is caused by a …

 
 
  A recessive allele, with both parents heterozygous.
B dominant allele, with both parents heterozygous.
C recessive allele, with one parent homozygous recessive while the
other is heterozygous.

D dominant allele, with one parent heterozygous while the other is

homozygous recessive.
 
 
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 Activity 1.9
A dominant allele causes the last joint of the little finger to bend inwards towards the fourth finger
(B) and is called ‘bent little finger’. The recessive allele (b) causes the little finger to be straight.
The pedigree diagram below shows the inheritance of a ‘bent little finger’ in a family.

1.1.1. Explain why individuals A and B are definitely heterozygous for this trait.
1.1.2. Individual C has a child with a partner that has straight little fingers.
Use a genetic diagram to show the possible genotypes and phenotypes of

the child.
 Answers activity 1.9
1.1.1. The parents have the dominant phenotype/have one dominant allele
- To have children with the recessive characteristic/bb
- The other allele of each parent must be recessive
1.1.2. P1 Phenotype Bent little fingers x Straight little fingers
Genotype Bb x bb
Meiosis
G/gametes B, b x b, b
Fertilisation

F1 Genotype Bb; bb; bb; Bb

Phenotype bent little finger; straight little fingers
OR
P1 Phenotype Bent little fingers x Straight little fingers
Genotype Bb x bb
Meiosis b b
Gametes B, b x b, b B Bb Bb
Fertilisation
b bb bb
F1 Genotype Bb; Bb; bb; bb
Phenotype bent little finger straight little fingers
 Activity 1.9
2.4 One type of deafness in humans is carried on a single allele. The diagram below shows the inheritance of
deafness in a family.

2.4.1 How many:

(a) Generations are represented in this pedigree diagram (1)
(b) Children of Paul and Lizzy are able to hear (1)

2.4.2 Which phenotype is dominant? (1)

2.4.3 Use the offspring of Bob and Ann to explain your
answer to QUESTION 2.4.2. (4)
2.4.4 Use the letter 'A' to represent the dominant allele and
the letter 'a' for the recessive allele to give ALL the
possible genotypes for a hearing individual. (2)
(9)

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 Answers Activity 1.9
2.4 2.4.1 (a) 3 /Three (1)
(b) 2 /Two (1)

2.4.2 Hearing  (1)

2.4.3 - Bob and Ann can both hear
- They have a child who is deaf/who has the genotype aa
- This means that each parent carries an allele for deafness/are heterozygous/Aa
- but it is masked by the dominant allele/which is for hearing (4)

2.4.4 AA and Aa  (2)

(9)

68
 Activity 1.9
The following pedigree diagram is for colour blindness. Determine the possible genotypes for number
1-15. Colour blindness is a sex linked condition. Use Xb to indicate the affected allele and XB to indicate
the normal allele.

1 2 3 4
KEY:
 
= Affected male
 
= Normal male 5 6 7 8 9 10 11
 
= Affected female
 
= Normal female
  12 13 14 15
 
 Answers Activity 1.7
4
XBXb XB Y XBXb XbY

6 8
XBXb or XbY XBXb XbY XBXb XBXb XBY
XBXB

XbY
12
XBXb XB Y XBXb
 Exam Guidelines/ATP
CONTENT ELABORATION
Mutations  Definition of a mutation
   
Effects of mutations: harmful mutations, harmless mutations and useful
mutations
 
Mutations contribute to genetic variation
 
Definition of gene mutation and chromosomal mutation
 
Two types of mutations that can alter characteristics leading to genetic
disorders:
 
Gene Mutations
Haemophillia – absence of blood-clotting factors
Colour blindness – due to absence of the proteins that comprise either the red
or green cones/photoreceptors in the eye
 
Chromosomal mutation
Down syndrome – due to an extra copy of chromosome 21 as a result of
non-disjunction during meiosis

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 Mutations
• Exam tips
• 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!

 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 structure or number of chromosomes

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 Mutations
Examples of gene mutations
• Haemophilia –absence of blood clotting factors
• Colour blindness – absence of the proteins that make up either the red or green
cones/photoreceptors in the eye.

Example of chromosomal
mutations
• Down syndrome – due to an
extra copy of chromosomes 21
as a result of non-disjunction
during meiosis
In Down
Syndrome there
is an extra
chromosome
on pair 21
 Activity 1.10
Sickle cell disease is caused by a recessive allele and first appeared in humans as a result of a gene
mutation. The table below shows the number of children born with sickle cell disease in some regions in a
particular year.

1 What is a gene mutation? (2)

     
2 Which region had the highest number of children (1)
  born with sickle cell disease in that year?  
3 What percentage of the worldwide total of children (3)
  born with sickle cell disease came from the
Democratic Republic of Congo? Show ALL
calculations.
     
4 Use the letters D and d to give the genotype of a  
person who:
(a) Suffers from sickle cell disease (1)
(b) Carries the allele but does not suffer from (1)
the disease (8)
 Answers Activity 1.10
10.1  a change in the sequence of  
 nitrogenous bases/nucleotides in a gene (2)
     
10.2 Nigeria (1)
     
10.3 39 746  x 100 = 13%  
305 733 (3)
     
10.4 (a) dd (1)
(b) Dd (1)
(8)
 Genetic engineering
• Biotechnology is the manipulation of Advantages of Genetic Disadvantages of Genetic
biological processes to satisfy human needs engineering engineering
• genetic engineering is an aspect of · Production of · Expensive/ research
biotechnology and includes GMOs, cloning, medication/ resources money could be used for
stem cell research cheaply other needs

• Why people might be against genetic • Control pests with • Interfering with nature or
engineering: specific genes inserted immoral
into a crop
• The long-term effects of genetic engineering • Potential health impacts
on the environment are not known so it • Uses specific genes to
• Unsure of long-term
increase crop yields/
could lead to health problems in the future food security
effects
• It is morally wrong to engage in genetic • Selecting genes to
engineering since it is interfering with increase shelf- life of
nature plant products

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Stem cell research
Sources:
 embryonic stem cells
 bone marrow
Uses:
 treat cancers of the blood e.g., leukaemia,
 replacing dead cells in the heart after a heart
attack
 growing skin tissue to treat burn victims
 growing nerve cells to treat spinal cord injuries
and Parkinson’s disease
 growing pancreatic cells to treat diabetes

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 Genetic Modification
Genetically modified organisms
 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).
GMOs 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
tumors and cystic fibrosis
 Genetically Modified Organisms
• GM plants
• Between 70% and 80% of maize in SA is GMO
• Bt crops – contain the protein (Bt) which kills insects if they
digest it. Less pesticide needed.
• GM animals
• Enviropig,
• featherless chicken,
• sudden death mosquitoes,
• fast growing salmon.
• Objections
• Playing with nature/God
• Not safe (health)
• Not good for the environment
Process of Genetic Modification

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 Cloning
• In biology, cloning is the process of producing similar
populations of genetically identical individuals that
occurs in nature when organisms such as bacteria,
insects or plants reproduce asexually.
Benefits 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.

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 Activity 1.11 Problem Based Learning
‘We Can Clone Pet Dogs—
But Is That a Good Idea?’

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 Paternity testing

An analysis, usually of the DNA or blood type of a mother, child, and putative father, to estimate
the probability that the man is the biological father of the child.
  Blood groups DNA profile
 Read the extract.

ACT
IVIT 1. According to the extract, state ONE:  

Y   (a) Advantage of cloning (1)

(b) Disadvantage of cloning (1)
1.12  
2. State why the donor cell was taken from LMJC 865 and not from any (1)
other cow.
3. State why an ear cell was used and not an ovum. (2)
4. Briefly describe the process of cloning. (4)
(9)
 Answers Activity 1.12
1. (a) It allows for the production of organisms with desired    
  characteristics
  (Mark first ONE only) (1)
     
(b)  It reduces genetic variation in offspring  
 It is expensive  
(Mark first ONE only) Any 1 (1)

2. LMJC 865 had a high average milk-production yield/78 litres per day    
      (1)
     A diploid cell/ a cell with all the genetic information is needed  
  3.  An ovum is a haploid cell/ only contains half of the genetic  
    information  
      (2)
 
 
   The nucleus of the donor cell was removed  
  4.  and implanted into an empty ovum  
     The resulting zygote was stimulated to divide  
     The embryo was then placed into the uterus of an adult female  
     
    (4)
(9)
 Activity 1.12
2.2 A farmer decided to have his best meat-producing bull cloned.  
The following steps were used in the process:
 
 A muscle cell was taken from the bull and the nucleus was removed.
 An ovum was taken from a cow and the nucleus was removed and discarded.
 The nucleus from the muscle cell was placed in the empty ovum.
 The ovum was given an electric shock to stimulate normal cell division to
produce an embryo.
 The embryo was placed in the uterus of a surrogate cow where it developed
into the clone.
 
2.2.1 What is cloning? (1)
 
2.2.2 Explain why the nucleus of a muscle cell was used and not the nucleus of a  
  sperm cell. (2)
 
2.2.3 Explain why the nucleus of the ovum was removed. (2)
   
2.2.4 State ONE benefit of cloning. (1)
(6)
 Answers Activity 1.12
2.2    
2.2.1 The production of (genetically) identical organisms (1)
     
2.2.2  A muscle cell contains all the genetic material of the bull/is  
diploid whereas
 
 a sperm cell has only half the genetic material/ is haploid
(2)
     
2.2.3  to remove the genetic material of the cow  
 so that only the genetic material from the (best meat
 
producing) bull is present
(2)
     
2.2.4  to produce organisms with desired traits e.g. health;  
appearance; nutritious; yield; shelf-life; etc.
 
 Conservation of threatened species
 To create tissues/organs for transplant  
Mark first ONE only Any 1 (1)
 KEY POINTS FOR THE MODULE
• The terms allele, gene and chromosome are used
interchangeably and therefore incorrectly by many learners –
ensure differentiated understanding .
• Mendel’s Law of Dominance and the Law of Segregation must
be learnt by heart.
• The process of cloning must be studied.
• Care must be taken on the position of meiosis and fertilisation
in the format of a genetic cross.

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