Revie

w.DNA
1
2.RNA
3.Guanine
4.Adenine (DNA)
5.Adenine
 Central Dogma

DNA Transcription RNA Translatio Protein

n s
Superheroes
MUTATIONS
Changes in the Genetic Code
MUTATIO
N
A natural process that changes the
DNA structure of an organism,
resulting to new characteristics
Changes in Genetic Code
Causes of mutation
1. Spontaneous mutation
something went wrong in the process
of replicating or forming the gametes
2. Induced mutations
environment: radiation , chemicals,
high temperatures, microbial infections
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 structure
of a chromosome.
 Mutation

Mutation Gene Mutation

Chromosomal
Mutation

Point mutation Deletion

Frame shift Duplication
mutation
Insertion
Inversion

Translocation

Non-
disjunction
1. Gene Mutation
1. Point Mutation
An incorrect nucleotide is substituted
for the correct nucleotide
Disorder
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.
Disorder

Cystic
fibrosis
 Mutation

Mutation Gene Mutation

Chromosomal
Mutation

Point mutation Deletion

Frame shift Duplication
mutation
Insertion
Inversion

Translocation

Non-
disjunction
Normal male karyotype
Normal female karyotype
2. Chromosomal Mutation
1. Deletion
One or more gene is
removed.
Disorder

Cri du chat
Disorder

Jacobsen
Syndrom
e
2. Chromosomal Mutation
2. Duplication
A segment of genes is copied
twice and added to the
chromosome in duplication
Disorder
Charcot-Marie-Tooth disease
2. Chromosomal Mutation
3. Inversion
When a segment of genes flip
end-to-end on the chromosome,
inversion occurs.
Disorder
Four Ring Syndrome
2. Chromosomal Mutation
4. Insertion
A portion of chromosome
breaks off, and attaches to
another chromosome
2. Chromosomal Mutation
5. Translocation
Genes are swapped with
another chromosome.
2. Chromosomal Mutation
5. Non-disjunction
During anaphase II
in meiosis,
homologous
chromosomes fail
Disorder
Down’s Syndrome
Disorder
Edward’s Syndrome
Other Genetic
Disorder

Klinefelter’s Syndrome
Other Genetic Disorder

Turner’s Syndrome
Diagnosing Genetic
Disorders
 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 image)
 Fetoscopy (direct observation)
Benefits of Mutation
 Mutation

Mutation Gene Mutation

Chromosomal
Mutation

Point mutation Deletion

Frame shift Duplication
mutation
Insertion
Inversion

Translocation

Non-
disjunction
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 syndrome –