GENETIC

MUTATIONS
REMEMBE
A gene R:
is a section of DNA (genetic code).

Our genetic code is a blueprint for our bodies.

Just like how different LEGO blocks can
create different structures, our DNA
determines how our bodies are built and
function.
 Sometimes, mistakes
happen during the DNA
copying process, leading to
changes called mutations.
 WHAT CAUSES
MUTATIONS?
Errors in DNA replication during cell division.

Exposure to mutagens (radioactive substances,

x-rays, ultraviolet radiation and certain
chemicals).

Viral infections and other infectious agents.

 TYPES OF
MUTATIONS
Gene Mutation

Chromosomal Mutation
GENE MUTATION

A genetic mutation is a change that

occurs in our DNA code (sequence of
nucleotides).
 GENE MUTATION

POINT MUTATION FRAME SHIFT

MUTATION
Insertions or deletions
Alteration of a single
that shift the reading
nucleotide
frame
SILENT MUTATION

Do not change the protein

produced
NONSENSE MUTATION

Introduce a stop codon

prematurely
MISSENSE MUTATION

Change one amino acid in

the protein
POINT MUTATION
FRAMESHIFT
MUTATION
Shifts the frame of a
codon due to an insertion
of a base/nucleotide.
2 TYPES OF FS
MUTATION
Insertion

Deletion
INSERTION
DELETION
POINT VS INSERTION VS
DELETION
POINT VS INSERTION VS
DELETION
 CHROMOSOMAL
MUTATIONS
Entire sections of chromosomes can be rearranged or lost.

One or more genes may be swapped or deleted.

TYPES OF CHROMOSOMAL
MUTATIONS
• Deletion
• Duplication Changes in chromosome parts
• Inversion

• Translocation- Segments of a chromosome move to a

different chromosome

• Aneuploidy- Changes in the number of chromosomes,

leading to disorders like Down syndrome
TYPES OF CHROMOSOMAL
MUTATIONS
TYPES OF CHROMOSOMAL
MUTATIONS
 GENETIC
DISORDERS
SICKLE CELL ANEMIA

Caused by a point mutation in the

hemoglobin gene
CYSTIC FIBROSIS

Result of a mutation in the CFTR gene

DOWN SYNDROME

Typically caused by an extra copy of

chromosome 21 (Trisomy 21).
MUTATION
DETECTION
KARYOTYPING
KARYOTYPIN
G
Is where we look at the cromosome of a
selected cell.
Analyzes:
• Number
• Structure
 FACTORS
THAT AFFECT
OUR DNA
CHEMICAL FACTORS
Revises Chemical Compositions.
Activities:
• Smoking- Benzopyrene

• Plastics- Vinyl Chloride

CHEMICAL FACTORS
RADIATIVE FACTORS
Creates/Destroys bonds in our DNA
• UV Radiation-Creates bonds between
bases that otherwise would not exist,
• X-rays- Breaks strands of DNA apart,
which can lead to mutations when
the cell tries to repair its DNA using
free-floating molecules.
RADIATIVE FACTORS
BIOLOGICAL FACTORS
Attacks DNA Structure
• HIV-Insert their genetic material into
a host cell's DNA.
• Hepatitis b- Make the body secrete
defensive chemicals that, over time,
cause mutations,
BIOLOGICAL FACTORS
Original DNA Sequence: TAC-ACC-TTG-GCG-ACG-ACT
mRNA Sequence: AUG-UGG-AAC-CGC-UGC-UGA
Amino Acid Sequence: Met-Tryp-Asn-Arg-Cys-STOP

• Mutation: Nonsense
Mutated DNA Sequence #1:
mRNA Sequence:
Amino Acid Sequence:
Original DNA Sequence: TAC-ACC-TTG-GCG-ACG-ACT
mRNA Sequence: AUG-UGG-AAC-CGC-UGC-UGA
Amino Acid Sequence: Met-Tryp-Asn-Arg-Cys-STOP

• Mutation: Nonsense
Mutated DNA Sequence #1: TAC - ATC - TTG - GCG - ACG -
ATC
mRNA Sequence: AUG - UAG - AAC - CGC - UGC - UGA
Amino Acid Sequence: Met - STOP
Original DNA Sequence: TAC-ACC-TTG-GCG-ACG-ACT
mRNA Sequence: AUG-UGG-AAC-CGC-UGC-UGA
Amino Acid Sequence: Met-Tryp-Asn-Arg-Cys-STOP
• Nonsense
• Silent
• Missense
• Frameshift: Insertion
• Frameshift: Deletion