Mutations are changes to an organism's DNA sequence that can result in new characteristics. There are two main types of mutations: gene mutations, which affect a single gene, and chromosomal mutations, which involve changes to chromosomes. Chromosomal mutations can include deletions, duplications, inversions, insertions, or nondisjunction events during cell division. Certain genetic disorders are caused by specific chromosomal mutations, such as cri du chat syndrome resulting from a deletion on chromosome 5, and Down's syndrome from nondisjunction of chromosome 21.

1. MUTATIO
NS
Changes in the Genetic
Code

2. THE CAT EAT THE
RAT

3. THE CAR EAT THE
RAT

4. TEH TCA EAT TEH
TAR

5. MUTATIO
N
A natural process that changes
the DNA structure of an
organism, resulting to new
characteristics
Changes in Genetic Code

6. MUTATIO
N
Mutations are changes to a DNA
sequence. Just like the information in
DNA as a group of sentences,
mutations are mistakes in spelling of
the words that form those sentences.

7. MUTAGE
N
Mutagens are agents that cause
alteration in the DNA and can lead to
permanent mutations in the DNA
sequence depending on the ability of
an organism to repair the damage.

8. MUTAGE
N
Examples of mutagens are
radioactive substances, x-rays,
ultraviolet radiation, and certain
chemicals or drugs.

9. Causes of
mutation
1.Spontaneous mutation
something went wrong in the
process of replicating or forming
the gametes
2. Induced mutations
environment: radiation , chemicals,

10. Types of
Mutation
1.Gene mutation
only a single gene is affected
which happens during the
replication of DNA.
2. Chromosomal mutations
any change in the number or

11. Mutatio
n
Mutation
Gene Mutation
Point mutation
Frame
shift
mutation
Chromosomal
Mutation
Deletio
n
Duplicatio
n
Insertio
n
Inversio
n
Translocatio
n
Non-
disjunctio

12. 1. Gene
Mutation
1. Point Mutation
An incorrect nucleotide is substituted
for the correct nucleotide
It is the type mutation in DNA or RNA
wherein one single nucleotide base is
deleted, added or altered.

14. 1. Gene
Mutation
1. Point Mutation
This can lead to substitution mutation.
There are three types of substitution
mutation. These are NONSENSE, MISSENSE
and SILENT MUTATION.

15. NONSENSE MUTATION
 Nonsense mutation results in the
formation of a stop codon due to the
substitution of one nitrogenous base.
Remember, stop codons are special
nitrogenous bases that stop the
translation stage in protein synthesis.

16. NONSENSE MUTATION

17. MISSENSE MUTATION
 When one nitrogenous base of
the DNA is replaced and the
result is an altered codon but
does not form a stop codon, it is
classified as missense mutation.

18. MISSENSE MUTATION

19. MISSENSE MUTATION
 Missense mutation can be classified into
conservative and non-conservative.
Conservative mutation: When the new amino
acid formed has the same properties of the
one that was supposed to be produced. Non-
conservative: When the new amino acid
formed has different properties of the one that
was supposed to be produced.

20. SILENT MUTATION
 Silent mutation happens when a nitrogenous
base is altered but the same amino acid is
produced. Remember, many codons can
code for the same amino acid. Example:
GGC and GGU can both code for glycine. If C
is changed to an U, the same amino acid will
be produced and therefore, the amino acid
will not be changed.

21. SILENT MUTATION

27. 1. Gene
Mutation
2. Frame shift Mutation
Involves the insertion or deletion
of a nucleotide in the DNA
sequence that changes codons.
The shift may produce different
amino acids and proteins.

29. 2. Chromosomal
Mutation
1. Deletion
One or more gene
is removed.

31. Disorder
Cri du chat
a rare genetic disorder
caused by missing pieces on
a particular chromosome. It
is not the result of anything the
parents have done or failed to
do. The characteristics of a
newborn with cri du chat
syndrome include a high-
pitched cry, a small head and a
flattened bridge of the nose.

32. Disorde
r
Jacobsen
Syndrome
include small and low-set
ears, widely set eyes
(hypertelorism ) with droopy
eyelids (ptosis ), skin folds
covering the inner corner of
the eyes (epicanthal folds ),
a broad nasal bridge ,
downturned corners of the
mouth , a thin upper lip , and
a small lower jaw

33. 2. Chromosomal
Mutation
2. Duplication
A segment of genes is
copied twice and added to
the chromosome in
duplication

35. Disorder
Charcot-Marie-Foot
disease

36. 2. Chromosomal
Mutation
3. Inversion
When a segment of genes
flip end-to-end on the
chromosome, inversion
occurs.

38. Disorder
Four Ring
Syndrome

39. 2. Chromosomal
Mutation
4. Insertion
A portion of
chromosome breaks off,
and attaches to another
chromosome

40. Disorder

41. 2. Chromosomal
Mutation
5. Translocation
Genes are swapped
with another
chromosome.

44. 2. Chromosomal
Mutation
5. Non-disjunction
During anaphase II
in meiosis,
homologous
chromosomes fail

46. Disorder
Down’s
Syndrome

48. Disorder
Edward’s
Syndrome

50. Other Genetic
Disorde
r
Klinefelter’s
Syndrome

53. Other Genetic
Disorder
Turner’s Syndrome

56. Diagnosing Genetic
Disorder
s
There are several ways to determine
whether a child will have a genetic
disorder
Two main ways to diagnose:
Analysis of fetal cells
Amniocentesis
Chorionic villus biopsy
Imaging techniques
Ultrasonography (computerized

57. Benefits of
Mutation

58. Mutatio
n
Mutation
Gene Mutation
Point mutation
Frame
shift
mutation
Chromosomal
Mutation
Deletio
n
Duplicatio
n
Insertio
n
Inversio
n
Translocatio
n
Non-
disjunctio

59. Determine the Chromosomal
mutations in the following genetic
disorder:
1. Cri du chat
2. Jacobsen
syndrome
3. Down’s syndrome
4. Edward’s
syndrome
5. Turner’s
–
–
–
–
–

60. GENE MUTATION ACTIVITY