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.
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.
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
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.
13.
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.
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.
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.
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.
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
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