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Inherited Diseases
Medical Detectives
© 2013 Project Lead The Way, Inc.
DO NOW
Thursday December 8th
1. What is the name of gene responsible for
HD?
2. What is the mutation in this gene?
3. What kind of molecule do genes code
for?
4. How does this mutation result in damage
to brain cells?
PLAN
• Use appropriate laboratory methods to isolate DNA
from cheek cells.
DO
• Discuss Lab
• Conduct Lab
• Discuss DNA structure and inherited diseases while
waiting for DNA to precipitate
DNA Isolation Lab
• Collect Cheek
Cells
• Cell Lysis
– Initial your 15 mL
tube
– Swish Gatorade
for 1 full minute
– Open your tube
and spit
Gatorade directly
into it.
• Precipitate DNA
– Add 2 mL of cell
lysis solution
– Put the cap back
on your tube
– Invert tube
carefully 5 times
– DO NOT SHAKE
TUBE
– Wait 4 minutes
-
-
-
-
Hold tube at an
angle
Add ice cold
ethanol to 1314 mL by
running it down
side of tube
Let sit for 10
minutes in test
tube rack
DO NOT
MOVE IT
1.
What
are
the
FOUR
bases
While you
found
in
DNA?
wait…
2. What molecule does DNA
code for?
3. What is the name for the
shape of a DNA
molecule?
4. How many chromosomes
does a human have?
5. Why is DNA extraction
important?
While you wait…
• Discussion of Inherited diseases like
Huntington’s Disease…..
Types of Inherited Diseases
• Recessive
– Requires a mutated
copy of the gene
from each parent for
child to have the
disease.
Types of Inherited Diseases
• Dominant
– Requires a mutated
copy of the gene
from only one parent
for the child to have
the disease.
Examples of Inherited Diseases
Tay Sachs-recessive (both parents must pass)
Hemophilia-recessive (both parents must pass)
Cystic Fibrosis-recessive (both parents must
pass)
Huntington’s Disease-dominant (only one parent
must pass)
Polycystic Kidney Disease-dominant (only one
parent must pass)
Hemachromatosis-recessive (both parents must
pass)
Sickle Cell Anemia-recessive (both parents must
Cystic Fibrosis
What is it?
What is the
outcome?
A recessive genetic disease caused
by the production of abnormal, thick,
sticky mucus.
Death caused by lung infections
usually before age 35.
What are
•Coughing and wheezing
the
•Diarrhea
symptoms? •Chronic lung infections
Huntington’s Disease
What is it?
A dominant genetic disease caused
by the deterioration of nerve cells in
the brain.
What is the Continual decline in mental and
outcome?
physical ability; death usually occurs
15 to 20 years after onset.
What are
•Difficulty walking
the
•Uncontrollable body movements
symptoms? •Memory and cognitive impairment
What Causes Inherited Diseases?
• Genetic material of a cell is changed (called a
mutation), causing a change in the cells and
ultimately the body’s function which lead to a disease.
• The genetic material is deoxyribonucleic acid (DNA)
and contains the instructions for the growth and
development of the individual.
• The changed genetic material is passed from parent
to child.
While you wait…..
• Now answer Conclusion questions 9-11 on
page 33-34 of your biomedical science
journal.
• If time permits, go ahead and cut the string
for your DNA necklace (30 inches long).
Tie the ends of the string together to form a
loop. Make sure the loop will fit over your
head.
Making your DNA Necklace
• Use a plastic pipet to draw the DNA (white
strands) out of the ethanol layer (top layer) in
your tube.
• Expel the DNA out of the pipet into your pendant
tube.
• Fill the rest of the tube with ethanol ONE DROP
AT A TIME. Do not overfill.
• Place your loop of string around the hinge of the
cap on your pendant tube and close the cap.
• Put on your necklace and invert the tube to
watch your DNA move through the ethanol.
• ENJOY!!
Image Resources
By Français : Domaina [CC-BY-SA-3.0
(http://creativecommons.org/licenses/by-sa/3.0)], via Wikimedia
Commons
By Kashmiri, based on earlier work by Domaina [CC-BY-SA-3.0
(http://creativecommons.org/licenses/by-sa/3.0)], via Wikimedia
Commons
By KES47 (File:Chromosome zh.svg) [CC-BY-3.0
(http://creativecommons.org/licenses/by/3.0)], via Wikimedia
Commons