7.

0 MUTATION
a) Definition:

b) Classification of mutation
i)
ii)

c) Types of mutation

i) Gene / point mutation

▪ Definition:

▪ Flow of changes:

DNA:

mRNA:

Amino acid sequence:

Protein produced :

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 ▪ Types of gene mutation:
a) Base substitution
Definition:

Example of disorder caused by base sustitution: _____________________________

Description on how this disorder can occur due

to base substitution:

Characteristics of the person with the disorder :

Base substitution can lead to:

i. ____________________________________ Description:

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ii. ____________________________________

Description:

iii. _____________________________________
Description:

b) Base insertion
Definition:

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 Description:

c) Base deletion
Definition: Description:

Question:
1. The template strand of a DNA contain sequence of 3’ TACAACTGGACGGAA 5’. Predict what will
happen when DNA sequence is change into 3’ TACAAATGGACGGAA 5’.

Mutant DNA : 3’ TACAAATGGACGGAA 5’

mRNA produce :

amino acid sequence:

2. Figure 1 shows a DNA base sequence. It also shows the effect of two mutations
on this base sequence. Figure 2 shows the genetic code that code for different amino acids.

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Original DNA base T A A C C T C A A A G C
sequence

Amino acid sequence

Mutation 1 DNA base T A A C C A C A A A G C
sequence
Mutation 2 DNA base T A A C C T T A A A G C
sequence
FIGURE 1
Genetic code Amino Acid
GGU, GGC, GGA, GGG Gly
GUU, GUC, GUA, GUG Val
AUU, AUC, AUA Ile
AGU, AGC Ser
FIGURE 2

(a) Complete FIGURE 1 to show the sequence of amino acids coded for by the
original DNA base sequence. [ 1 mark]

(b) Some gene mutations affect the amino acid sequence. Some mutations do not.
Use the information from FIGURE 1 and FIGURE 2 to explain :
(i) whether mutation 1 affects the amino acid sequence
________________________________________________________________
_______________________________________________________________
[ 2 marks]
(ii) how mutation 2 could lead to the formation of a non-functional enzyme.
_______________________________________________________________
_______________________________________________________________
________________________________________________________________
[3 marks]
3. Gene mutation occur spontaneously.
(i) During which part of the cell cycle are gene mutations most likely to occur ?

_______________________________________________________________
[1 mark]
(ii) Suggest an explanation for your answer.
________________________________________________________
[1 mark]

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ii) Chromosomal mutation
❖ Chromosomal aberration
Changes in chromosomal _____________________
Description
Types:
a)

b)

c)

d)

❖ Changes in chromosomal ________________

➢ Aneuploidy
Definition:

Happen because of:

Aneuploidy can cause

a) 2n+1 :
b) 2n -1 :

a) Involve autosomal chromosome

i. Trisomy
Genetic Disease: _______________________________
How can this genetic disease occur?
Meiosis:
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Abnormal gamete produce:
Fusion of gametes:
Zygote produce:

Abnormal gamete normal gamete

X

Zygote

Genetic disease:

Characteristics:

ii. Monosomy
Genetic disease: __________________________
How can this genetic disease occur?
Meiosis:
Abnormal gamete produce:
Fusion of gametes:
Zygote produce:

Abnormal gamete normal gamete

X

Zygote

Genetic disease:

Characteristics:

b) involve sex chromosome

i. Trisomy
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Genetic Disease How it can occur
a) Klinefelter Meiosis:
syndrome
( ) Abnormal gamete produce:

Fusion of gametes:

Zygote produce:

Abnormal gamete normal gamete

OR

Zygote

Characteristics:

b) XXX Meiosis:
syndrome
Abnormal gamete produce:

Fusion of gametes:

Zygote produce:

Abnormal gamete normal gamete

OR
X

Zygote

Characteristics:
How it can occur

c) XYY Meiosis:
syndrome
Abnormal gamete produce:
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 Fusion of gametes:

Zygote produce:

Abnormal gamete normal gamete

Zygote

Characteristics:

ii. Monosomy

Genetic Disease How it can occur

a) Turner Meiosis:
syndrome
( ) Abnormal gamete produce:

Fusion of gametes:

Zygote produce:

Abnormal gamete normal gamete

OR

Zygote

Characteristics: 9
 b) Y0 Meiosis:

Abnormal gamete produce:

Fusion of gametes:

Zygote produce:

Abnormal gamete normal gamete

Zygote

Characteristics:

Question:
1. With the aid of diagram show what happens when a female gamete with no sex chromosomes is
fertilised by a normal sperm.

2. Discuss nondisjunction involving sex chromosomes in women and its consequences.

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3. Klinefelter syndrome is the result of a type of chromosome mutation in human. By using a meiotic
diagram, show how the condition arises and state characteristics of the affected human.

4. List three differences between Down syndrome and Turner syndrome. [ 3 marks]

5. Distinguish between chromosomal mutation and gene mutation. [ 3 marks]

➢ Polyploidy

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Definition:

Types:
i. Autopolyploidy

Definition:

ii. Allopolyploidy
Definition:

Question:
1. A cross between black mustard (2n=16) and radish (2n=20) produces hybrid X.
i) Draw a genetic diagram to show this cross. Show on the diagram how hybrid X
can become a fertile Z species.

ii) Explain why hybrid X is sterile whereas hybrid Z is fertile.

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iii) How can the sterile hybrid X still can reproduce?

iv) Producing a hybrid is said to be having more advantage compare to the parent.
Explain why.

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