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Lecture 6:

Gene Mutations
Human Chromosomes
A. Chromosome Mutations
• Changes in number and structure of entire chromosomes

Significance of Mutations
• Most are neutral
• Eye color
• Birth marks
• Some are harmful
• Sickle Cell Anemia
• Down Syndrome
• Some are beneficial
• Sickle Cell Anemia to Malaria
• Immunity to HIV
What Causes Mutations?

• There are two ways in which DNA can become mutated:


• Mutations can be inherited.
• Parent to child
• Mutations can be acquired.
• Environmental damage
• Mistakes when DNA is copied
Down Syndrome

 Heart defects
 Weak muscle
tone(hypotonia)
 Intellectual disability

 Caused by
 TRISOMY 21
(NONDISJUNCTION)
 MOSAICISM
 TRANSLOCATION
Chromosome Mutations
• Down Syndrome
• Chromosome 21 does not
separate correctly.
• They have 47
chromosomes in stead of
46.
• Children with Down
Syndrome develop slower,
may have heart and
stomach illnesses and vary
greatly in their degree of
inteligence.
Chromosome Mutations
• Cri-du-chat(cat’s cry)
• Deletion of material on 5th chromosome
• Characterized by the cat-like cry made by
cri-du-chat babies
• Varied levels of mental handicaps
Sex Chromosome Abnormalities

• Klinefelter’s Syndrome
• genetic disorder that
affects males(XY).
• XXY, XXYY, XXXY
• Male
• Sterility
• Small testicles
• Breast enlargement
Sex Chromosome Abnormalities
• XYY Syndrome
• Affects males(XY)
• Normal male traits
• Often tall and thin
• Associated with antisocial and behavioral problems
Sex Chromosome Mutations
• Turner’s Syndrome
• X
• Affects Female(XX)
• sex organs don't mature at
adolescence
• sterility
• short stature
• Normal intelligence
• extra folds of skin on the
neck, a low hairline at the
back of the neck, swelling
of the hands and feet,
skeletal abnormalities, or
kidney problems.
Sex Chromosome Mutations

• XXX
• Trisomy X
• Affects Female
• Little or no visible differences
• tall stature
• learning disabilities
• limited fertility
Some mutations even make it on
SNL!
Identify the following Chromosomal
mutations
• A female is infertile and suffers from a deletion of 1
X chromosome.

Identify the following Chromosomal
mutations
• Children with _________ develop slower, may
have heart and stomach illnesses and vary
greatly in their degree of intelligence.

• HINT: Their chromosome 21 did not separate


completely.
Identify the following Chromosomal
mutations
• A person has a deletion of material on 5th
chromosome and their cry is characterized by the cat-
like cry.
What is Klinefelter’s Syndrome?
Gene mutations

Changes in DNA that affect genetic information


A. Introduction to Mutations

-A mutation is a change in DNA sequence (order of


nucleotides).
-Mutations are important because they increase genetic
variation.
Mutations in Body Cells
-Mutations in body cells
cannot be passed on to
your children, however,
they can cause cancer or
other problems in your
body.

A cancer cell.
Cancer as a result of mutations in
body cells:
A person with skin cancer-This is why it’s
important to always wear sunscreen!
Cancer as a result of mutations in
body cells:

Tongue cancer and lung cancer


are often caused by changes in
body cells as a result of smoking,
so don’t smoke!!!
Mutations in Reproductive (Sex)
Cells
-Mutations in sex cells (sperm and egg cells) can lead
to changes in the DNA sequence which can be
passed down to a person’s children.
Mutations in sex cells
-X-men and X-women
would be a result of
mutations in sex cells.
These people inherited
mutated (changed)
DNA from their
parents:
Good vs. Bad Mutations

Mutations can be good as well as bad. A good mutation could


lead to a change in a protein that allows an animal to run
faster or see better. A bad mutation could lead to a change in a
protein that causes a genetic disease such as Sickle Cell Anemia
or Hemophilia.
B. Gene Mutations

• There are 3 main types of gene


mutations:
• 1. POINT MUTATIONS
• SUBSTITUTIONS
• 2. SILENT MUTATIONS
• 3. FRAMESHIFT MUTATIONS
• INSERTIONS
• DELETIONS
1. Point mutation
-Point mutation-a change in one base pair in a DNA
sequence.

Example: AUG=Met
AAG=Lys

-A point mutation can cause an amino acid to change, which


will change the structure of the protein being made.
POINT MUTATION
Picture of A Point Mutation
mRNA
Normal
Protein
Stop

Replace G with A

Point mRNA
mutation Protein
Stop
Activity: Example of Point Mutation(2 pts)
Write the Amino Acids in Order.
Normal: ACT CCT GAG GAG

Sickle cell: ACT CCT GTG GAG


Activity: Example of Point Mutation(2 pts)

Normal: ACT CCT GAG GAG


Amino Acids: Thr – Pro – Glu – Glu

Sickle cell: ACT CCT GTG GAG


Amino acids:Thr – Pro – Val – Glu
Point mutations in our lives!
-Sickle cell anemia is a blood disease caused by a
point mutation.
-A single nucleotide is changed from “A” to “T” which causes
the amino acid to change from glutamic acid to valine:
Normal: ACT CCT GAG GAG
Amino Acids: Thr – Pro – Glu – Glu
Sickle cell: ACT CCT GTG GAG
Amino acids:Thr – Pro – Val – Glu
Point mutations in our lives!
-People with sickle cell
anemia often experience
a lot of pain and
swelling and have
trouble exercising.

Sickle cells also can’t carry


Oxygen as effectively as normal
Cells.
2. SILENT MUTATION
• A TYPE OF MUTATION
THAT RESULTS IN A
CHANGE IN CODON
BUT DOES NOT
CHANGE THE AMINO
ACID CREATED.
Codons can code for the same
Amino acid!
Silent Mutations

• Single nucleotide mutation that does not result in a


change in the amino acid sequence of the protein
made
2 PTS

WHAT IS THE DIFFERENCE BETWEEN


A POINT MUTATION AND A SILENT
MUTATION?
3. Frameshift mutation

-Frameshift mutation- Adding or deleting nucleotides to a DNA


sequence.
-A frameshift mutation is much worse than a point mutation because
it causes the entire DNA sequence to be shifted over!
Example: DNA: ATTAAACCG

Delete this T

AT AAACCG
2 types of Frameshift mutations:

INSERTION DELETION
FRAME-SHIFT MUTATIONS:

• Deletion: Nucleotide missing – Entire


DNA sequence changed
V. Frameshift mutation
Deletion of U

Frameshift mRNA
mutation Protein
Frameshift Mutations

• Crohn’s Disease is caused by a frameshift mutation.


• It causes inflammation to the digestive tract.
WHAT IS THE DIFFERENCE
BETWEEN A POINT MUTATION AND
A FRAMESHIFT MUTATION?(2 pts)
Difference between a point mutation
and a frameshift mutation. (2 pts)
GUIDED PRACTICE- WHITEBOARDS
Is this a point mutation or a frameshift mutation?(2 pts)
Questions:

THE DOG BIT THE CAT

THE DOG BIT THE CAR

Point or frameshift?
Questions

THE DOG BIT THE CAT

THE DOB ITT HEC AT

Point or frameshift?

-
GUIDED PRACTICE

WHAT IS THE NAME OF THE TYPE OF


MUTATION THAT RESULTS IN A CHANGE IN
CODON BUT DOES NOT CHANGE THE
AMINO ACID?
GUIDED PRACTICE

• What type of frame-shift mutation is shown below?


Answer

INSERTION-
Frameshift
GUIDED PRACTICE

• What type of frame-shift mutation is shown below?


Answer

DELETION-
Frameshift
• WHAT TYPE OF MUTATION IS SHOWN
BELOW?
Answer

POINT
• BEFORE THE MUTATION, A DNA CODON
CODES FOR THE AMINO ACID VALINE.
AFTER THE MUTATION, THE DNA CODON
STILL CODES FOR VALINE.

• WHAT TYPE OF MUTATION IS THIS?


Answer

SILENT

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