Mutations

MUTATIONS
Explain how mutations may

cause changes in the
structure and function of a
protein.
By: Neil Fe M. Campos
Changes to your DNA happen when your cells divide and replicate. Most changes to a
person’s DNA don't affect their genetic makeup and won’t lead to any health
problems, but some mutations cause genetic conditions that could affect your health.
2 Categories of
Mutations
• Somatic Mutations
• Germline Mutations
Somatic Mutations
Somatic mutations are changes to your DNA that happen
after conception to cells other than the egg and sperm.
▪arise in somatic tissues, which do not produce gametes.
▪are passed on to other cells through the process of mitosis
▪not hereditary
▪have no obvious effect on the phenotype of the organism
▪stimulates cell division and increase in number and spread
▪can give rise to cells with a selective advantage and is the
basis for all cancers.
Germline Mutations
Germline mutations are changes to your DNA that you inherit
from the egg and sperm cells during conception.
▪are passed on from parents to offspring
▪producing individual organisms that carry the mutation in all
their somatic and germline cells
▪some common germline mutation conditions include:
✓ Sickle cell disease - causes abnormal hemoglobin to clump together, causing the red blood
cells to turn sickle shaped, which can lead to anemia, pain, infections and severe complications.
✓ Cystic Fibrosis - causes sticky, thick mucus to build up in the lungs and the pancreas.
✓ Tay-Sachs disease - a fatal genetic condition that affects nerve cells in your child’s brain
and spinal cord
Types of Mutations
Point mutation occurs when one DNA base is replaced by
another, resulting in a change of codon in the RNA sequence. It can
be classified either as:
• Transition
A purine is substituted with a different purine (A → G)
A pyrimidine replaced by a different pyrimidine (C → T)
• Transversion
A purine is substituted with a pyrimidine
A pyrimidine is replaced by a purine
Types of Mutations
Point mutation is sometimes referred to as Substitution mutation,
i.e. when the gene mutation involves only one nucleotide.
A point mutation can also be classified as:
Types of Mutations
Frameshift mutation is a type of gene mutation wherein the
addition or deletion of nucleotide(s) causes a shift in the
reading frame of the codons in the mRNA. This leads to the
alteration in the sequence of amino acids during protein
translation.
▪ Deletion - occurs when one or more DNA pairs are lost.
▪ Insertion - occurs when one or more DNA pairs are added
Types of Mutations
DELETION MUTATION
INSERTION MUTATION
Types of Mutations
Causes of Mutations
Mutations have many possible
causes. Some mutations seem to
happen spontaneously without
any outside influence. They can
occur when mistakes are made
during DNA replication or
transcription. Other mutations
are caused by environmental
factors.
Anything in the environment that
can cause a mutation is known as
a mutagen.
Effects of Mutations
1. A type of mutation that occurs when one DNA base is
replaced by another. It results in a change of codon in
the RNA sequence.
A. point mutation C. deletion
B. frameshift mutation D. insertion
2. It occurs when the mutation changes a reading frame

of RNA.
A. frameshift mutation C. substitution
B. point mutation D. DNA mutation
3. What is common between transversion and transition?
A. base substitution C. base insertion
B. base deletion D. base addition
4. A point mutation that changes a codon specifying an

amino acid into a stop codon is called a
A. missense mutation
B. nonsense mutation
C. silence mutation
D. deletion mutation
5. A ____ mutation originates during meiosis while a ____
mutation originates during mitosis.
A. germinal, somatic C. somatic, germinal
B. germinal, spontaneous D. spontaneous, point
6. Changing the codon AGC to AGA represents a ____

mutation.
A. missense C. frameshift
B. nonsense D. deletion
7. A frameshift mutation
A. replaces one amino acid with another.
B. removes part of the protein.
C. introduces a section of amino acids not normally found.
D. joins two different proteins.
8. Which of the following is also known as the removal

of one or more bases from the nucleotide chain?
A. Deletion C. Transition
B. Insertion D. Transversion
9. What is the substitution of a purine base with a
pyrimidine base known as?
A. Deletion C. Addition
B. Transition D. Transversion
10. What mutation has occurred here?

T-G-A-C-C-A
T-G-A-G-C-A
A. Substitution C. Insertion
B. Deletion D. Frameshift
11. Which of the following would result in a frameshift
mutation?
A. Insertions only C. Deletion only
B. Substitution only D. Insertions and Deletions
12. What type of chromosomal mutation has occurred?
A. substitution C. deletion
B. insertion D. frameshift

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MUTATIONS

Explain how mutations may

2. It occurs when the mutation changes a reading frame

4. A point mutation that changes a codon specifying an

6. Changing the codon AGC to AGA represents a ____

8. Which of the following is also known as the removal

10. What mutation has occurred here?

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