Name:____________________________________________________ Date:____________ Hour:________

Case Study - Mutations

What causes sickle cell anemia? Effects on DNA

Sickle cell anemia is caused by a point mutation in a persons DNA.
This means that one nucleotide that is supposed to be a part of the DNA
sequence is replaced by a different nucleotide. In a patient with sickle cell
anemia, an adenine nucleotide is replaced by a thymine nucleotide.
This mutation is pictured on the right.
What causes sickle cell anemia? Effects on Proteins
When the DNA becomes mutated in a sickle cell anemia patient, the message
is transferred to an mRNA strand. The mRNA sequence is then used to
create an amino acid chain which is bonded together to form a protein.
The mutation carried by the mRNA results in an incorrect amino acid being
added to the protein sequence. This mutation is pictured on the right.
What causes sickle cell anemia? Effects on Cells
The protein that is mutated in sickle cell anemia is called hemoglobin. This protein
gives blood its red color and carries oxygen from the lungs to the rest of the body.
Sickle cells contain abnormal hemoglobin that causes the cells to have a sickle shape.
Instead of being shaped like a doughnut like normal red blood cells, sickle cells are
shaped like a c. This is shown in the image on the right.
What causes sickle cell anemia? Effects on the Human Body
Normal red blood cells move easily through a persons blood vessels, and sickle-shaped cells do not. Sickle-shaped
cells are stiff and sticky and tend to form clumps that get stuck in blood vessels. The clumps of sickle cells block
blood flow in the blood vessels that lead to limbs (arms and legs) and organs. This results in less oxygen being
carried to these areas of the body. Blocked blood vessels can cause pain, serious infections, and organ damage. A
diagram comparing the movement of normal red blood cells and sickle cells in blood vessels is pictured below.

Name:____________________________________________________ Date:____________ Hour:________

Case Study: Josh

Josh is a two-year old boy who has been experiencing several heath problems for about a year. His parents bring
him to a local hospital and explain his symptoms to the doctor. The doctor is suspicious that Josh might be
suffering from a blood disease. He runs several tests to determine if his prediction is correct. These tests are
described below.

1) The doctor takes a sample of Joshs blood. He is able to extract Joshs DNA from the blood sample and he uses
DNA sequencing to determine if there are any mutations in Joshs genome. After spending several hours analyzing
this data, the doctor and his team notice an abnormality. This is shown below.
Joshs DNA:

ATG GTG CAC CTG ACT CCT GTG GAG AAG TCT GCC GTT ACT

Normal DNA:

ATG GTG CAC CTG ACT CCT GAG GAG AAG TCT GCC GTT ACT

2) The doctor then views a sample of Joshs red blood cells under a microscope. This is what he sees:

3) The doctor uses a special device to take a video of the flow of red blood cells through one of Joshs blood
vessels. Mrs. Jarrett will show this video in class, but if you would like to view it at home, the link is below:
(Note: start video at 0:16 without sound!)

http://www.youtube.com/watch?v=BkC5Hf-AKwo
4) The doctor also uses the symptoms that Joshs parents describe to make his diagnosis. These symptoms include
the following:

Episodes of severe pain

Frequent infections
Shortness of breath

***Note: The tests mentioned above are NOT how doctors typically make a diagnosis.

Name:____________________________________________________ Date:____________ Hour:________

Brainstorming

Directions: Using all of the evidence and information given to you on the first two pages of this assignment, work
with a partner to answer the questions below.
a) What disease is Josh suffering from? _____________________________
b) Explain how you know this by looking at Joshs DNA sequence.
________________________________________________________________________________
________________________________________________________________________________
________________________________________________________________________________
c) Explain how you know this by looking at the image of Joshs red blood cells under a microscope.
________________________________________________________________________________
________________________________________________________________________________
________________________________________________________________________________
d) Explain how you know this by watching the video of Joshs blood flowing through his blood vessel.
________________________________________________________________________________
________________________________________________________________________________
________________________________________________________________________________
e) Why is Josh experiencing the symptoms that his parents described? Explain how the shape of his red
blood cells causes these symptoms.
________________________________________________________________________________
________________________________________________________________________________
________________________________________________________________________________
________________________________________________________________________________
f) Which protein in Joshs red blood cells is mutated? Why is this protein important? (Use the reading on
the front page.)
________________________________________________________________________________
________________________________________________________________________________
________________________________________________________________________________
g) How can a mutation in Joshs DNA sequence cause an abnormal protein to be made? (Use the reading on the
front page.)
________________________________________________________________________________
________________________________________________________________________________
________________________________________________________________________________

Essay Response

Directions: On the back of this page, write your OWN response to the following prompt:
Create a hypothesis about why Josh is experiencing these symptoms. Use all evidence from the tests that his
doctor did and what you learned from the reading on the first page to help you explain your response. Make sure
to explain the effects of Joshs disease on his DNA, proteins, red blood cells and his body as a whole. The easiest
way to do this is to include each of the components that you and your partner brainstormed about (a-g) in
your response. Your essay should be 10-12 sentences in length.