Name: __________________________ Gr. & Sec.
_________ Date: _________ Score: _____
MUTATION
What is a Karyotype?
A karyotype is an individuals complete set of chromosomes. It can be used to look
for abnormalities in the chromosome number or structure. Humans have 23 pairs (46
chromosomes). For each pair, one chromosome comes from the father and the
other from the mother.
Fig. 1 A normal human karyotype Fig. 2 Down Syndrome karyotype
Task 1: Answer the following guide questions:
1. What is shown in a karyotype? _______________________
2. How many pairs of chromosomes are there in a human karyotype? __________
3. Compare the number of chromosomes in figure 1 and figure 2. How does
chromosome # 21 differ in figure 1 and figure 2? _________________________
4-5. Which has abnormal chromosome number, karyotype in fig. 1 or in fig. 2?
Why? __________________________________________________________
What is mutation?
Mutation comes from the latin word mutare means
“to change”. It involves changes or alterations in the
genetic material of an organism. Because of this change,
a mutant-an organism which has undergone mutation-
may suddenly exhibit a trait not found in its parents or
ancestors. Mutation can occur in body cells or sex cells.
Mutation in sex cells is inherited. There are two basic
types of mutation: gene mutation and chromosome
mutation.
What is gene mutation?
Gene mutation involves a change in the nucleotide sequence of a particular gene.
Example of this is point mutation, which occur in a single point in a DNA sequence.
Task 2: Answer the ff: questions
1. Does a change in single DNA nucleotide changes the mRNA nucleotide? ______
2. Which point mutation does not cause a change in the amino acid? _________
3. Which point mutation causes a protein to terminate or end earlier than expected?
_________________
4. Which point mutation alters the genetic code and produces an amino acid that is
different from the usual amino acid? _______________________
What is chromosomal mutation?
Chromosomal mutation involves change in the number or structure of
chromosomes, which include many genes. There are four types of chromosomal
mutations: deletion, duplication, inversion and translocation.
Figure 1 Figure 3
Figure 2 Figure 4
Task 3: Answer the following questions:
1. Which type of mutation shows that a segment of the chromosome is lost? ____
2. Which type of mutation shows that a gene is repeated? _________________
3. Which type of mutation shows that a segment is broken off and inverted? __
4. Which type of mutation shows that a part of one chromosome attaches to another
chromosome? __________________
What are the causes of mutation?
Mutations are caused by mutagens, chemical or physical agents in the environment.
Chemical mutagens include certain pesticides, tobacco smoke and environmental
pollutants. Physical mutagens include some forms of electromagnetic radiation such as x-
rays and ultraviolet.
What are the effects of mutation?
Most mutations are neutral or silent, having neither positive nor negative effects on
organisms. Some mutations can be beneficial – new proteins can be made, which gives rise
to new traits and new adaptation to an environment. This is an advantage for survival,
reproduction, and evolution. They can increase genetic variation. Example in human is
trichromatic vision, which causes us to discriminate among the three colors red, blue and
green. Some mutations are harmful, they can cause genetic disorders like cystic fibrosis
(causes the body to produce thick mucus that affects the lungs and digestive system),
hemophilia (blood does not clot), chronic myeloid leukemia (cancer of the bone marrow),
and all forms of cancer.
Task 4: Answer the ff. questions
1. How can you prevent mutation? _________________________________________
[Link] you could be a character in the Marvel like spiderman & x-men , would you want a
mutation or not? If you do want a mutation, what kind would you want and why?
Prepared by: Abbarsaga Noted: Rolly C. Duroy/HT VI, Science