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Lecture 6

This document discusses different types of gene and chromosome mutations. It begins by describing chromosome mutations such as changes in number or structure of entire chromosomes. It then discusses the significance of mutations, noting that most are neutral, some are harmful causing diseases like sickle cell anemia and Down syndrome, and some are beneficial providing immunity. The document explains the causes of mutations as inherited from parents or acquired through environmental damage or DNA copying mistakes. It provides details on specific chromosome mutations like Down syndrome, Cri-du-chat syndrome, and various sex chromosome abnormalities. It concludes by defining gene mutations as changes in DNA sequence and describes three main types: point mutations, silent mutations, and frameshift mutations.

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Anthony Fajardo
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62 views

Lecture 6

This document discusses different types of gene and chromosome mutations. It begins by describing chromosome mutations such as changes in number or structure of entire chromosomes. It then discusses the significance of mutations, noting that most are neutral, some are harmful causing diseases like sickle cell anemia and Down syndrome, and some are beneficial providing immunity. The document explains the causes of mutations as inherited from parents or acquired through environmental damage or DNA copying mistakes. It provides details on specific chromosome mutations like Down syndrome, Cri-du-chat syndrome, and various sex chromosome abnormalities. It concludes by defining gene mutations as changes in DNA sequence and describes three main types: point mutations, silent mutations, and frameshift mutations.

Uploaded by

Anthony Fajardo
Copyright
© © All Rights Reserved
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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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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