GENETIC
DISEASES &
DISORDERS
ANNA WARD
RIDGE ROAD MS
DO NOW…
WRITE OUT EACH QUESTION….
1. ______________ is the process that occurs after
transcription of the DNA into RNA and the message is
read to create proteins.
2. What is the process by which DNA is read and a
corresponding strand of RNA is created?
a. Translation
b. Transcription
c. Replication
d. Mutation
3. Write out the corresponding DNA code that would be
created during replication of this strand:
ATT CGA TTA CCA GTA CAT GTA
AGENDA FOR TODAY:
• Review of Mutations
• What is a mutation? Is it a good thing or a bad thing?
• Benefits to Mutations
• Disorders & Diseases associated with Genetic Mutations
• Three Levels
•
Notes & Short Videos
• Group Assignments
• Disease Stations:
•
•
•
•
Sickle Cell Anemia
Huntington’s Disease
Down’s Syndrome
Klinefelter’s Syndrome
REVIEW FROM FRIDAY
• A mutation is any change in the DNA.
• The change can be beneficial, detrimental, or have no effect.
• In other words, the change can be Good or Bad. It may not have
any affect
• The mutation may have a small or large effect.
• Level 1, Level 2, or Level 3
MUTATIONS are not what we think of from Sci-Fi/Horror Movies!
http://www.youtube.com/watch?v=gqvYOr78THo&feature=related
BENEFICIAL
MUTATIONS
Beneficial Mutations:
• Provide Genetic Variation
• Allow species to Adapt to the Environment & Conditions
• Mutations are what have allowed the Earth to have the variety of life
we have today
• Part of the “engine” of Evolution—(it’s what drives evolution)
EXAMPLES:
• Mutations have allowed organisms to evolve from unicellular to
multicellular organisms
• Development of the Human Thumb
MUTATIONS THAT
CAUSE DISEASE
Often a mutation can cause
disease.
Genetic Diseases can be classified
in three ways.
TYPE 1 MUTATIONS
Single-Gene Disorders
Result when a mutation causes
the protein product of a single
gene to be altered or missing.
Ex: Sickle Cell Anemia, Cystic
Fibrosis, & Huntington’s Disease
Can also be Sex-Linked. Males have
a higher chance of getting the
disease because they are not
protected by a second X
chromosomes. (No Carriers)
Ex: Hemophilia, Baldness
TYPE 2 MUTATIONS
Chromosomal Abnormalities
Entire Chromosomes (or large segments of them) are
missing, duplicated, or otherwise altered.
Ex: Down’s Syndrome, Klinefelter Syndrome
TYPE 3 MUTATIONS
Multifactorial Disorders
Result from mutations in multiple genes, often coupled with
environmental causes
EXAMPLES: Colon Cancer, Breast/Ovarian Cancer, Alzheimer’s
Before we head to our stations, lets watch a video about mutations that
cause Ovarian & Breast Cancer:
http://www.youtube.com/watch?v=4bGkUQBw1Rs&feature=related
CANCER: WHAT IS IT?
Cancer is a genetic disorder that
affects the cell cycle (how a cell
divides) that is characterized by
uncontrolled division of cells.
http://www.brainpop.com/health/diseasesinjuriesandconditions/
cancer/
http://www.youtube.com/watch?v=C503LJrUGKc
EXAMPLES OF
CARCINOGENS
A carcinogen is a cancer causing agent that speeds up the process
of genetic mutations and the potential for developing cancer.
Tobacco Smoke
Ultraviolet Radiation from the sun
Certain Chemicals
Exposure to certain viruses such as HPV
Other forms of radiation
Other negative lifestyle choices (drug abuse, unhealthy diet) can also
influence your body’s ability to fight off disease or develop cancer
A very personal example from me…
STATIONS
We will be visiting stations today that talk about some of the
most well-known Genetic diseases.
There are eight stations covering four different diseases. The
class will be split into groups that cover the front wall and back
wall. Each group has been assigned 2-3 members.
You will read the short article provided and answer the
questions posted at each station on your group activity sheet.
This will be graded for participation.
You will have approximately 8 minutes at each station. You will
move to the station with the next number up.
12341
3-2-1 EXIT TICKET
You will need to complete this before you will be allowed to
leave class.
Three things you learned today
Two things you are still confused about
One thing you would like to know more about