Download Human Genetic Diseases Project

Human Genetic Diseases Project
Modified from Kathryn Weatherhead
1. Use your textbook, the websites below, and other principle resources you can find
to complete this assignment.
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http://www.ncbi.nlm.nih.gov/SCIENCE96/ Click on “Show
featured gene” (near the top, on right side)
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http://www.ornl.gov/hgmis/
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http://www.ncib.nlm.nih.gov/omim
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http://www.rarediseases.org
2. Select 5 of the following genetic disorders from List 1 and 5 of the disorders from
list 2. For each one:
a)
Tell on what chromosome(s) the gene occurs with the gene marked
b)
Genetic basis (explanation) of disease
c)
List symptoms/ means of diagnosis
d)
Tell which group (gender, ethnic, age) is at most risk
e)
Describe a treatment or cure (if there is one)
f)
Tell if its dominant recessive, autosomal, or sex-linked (explain)
g)
Draw a map of the chromosome, showing the location of the
specified gene
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List 1
List 2
Alzheimer’s Disease
● Retinoblastoma
Breast Cancer
● Polycystic Kidney disease
Cystic Fibrosis
● Obesity
Duchenne Muscular Dystrophy
● Juvenile onset diabetes
Fragile X syndrome (X linked Retardation) ● Colon Cancer type 1 or 2
Huntington’s Disease
● Amyotrophic lateral sclerosis
Marfan Syndrome
(ALS) “Lou Gehrig’s Disease”
Phenylketonuria (PKU)
● Autism
Severe combined immunodeficiency (ADA) ● SCIDS
Down’s Syndrome
● Werner’s Syndrome
● Epilepsy
Format: You will be required to complete a “one pager” for each disorder.
Make a Title Sheet that includes your name and title of project. Put list 1 first
then list 2 diseases.
Sources: Minimum of 3 citations REQUIRED for each disease (on the back of
each page). Remember to cite the sources of photos and images, too!
Human Genetics Diseases Data Form
Disorder:
Source:
Chromosome #:
Symptoms:
Diagnosis:
Genetic explanation:
Group at risk:
Treatment:
Cure:
Autosomal/ Sex-linked:
Dominant/ Recessive:
Chromosome (sketch) map showing locus:
Human Genetic Disease
Grading Criteria
NAME_________________________________________SCORE_________________
1. 10 diseases chosen/named (10 points)
__________________
2. Chromosome number (10 points)
__________________
3. Symptoms/ Diagnosis/ Genetic Explanation (30 points)
__________________
4. Group(s) at risk (10 points)
__________________
5. Treatment/ Cure (20 points)
__________________
6. Dominant/ Recessive/ Autosomal/ Sex-linked (20 points)
With explanation
__________________
7. Chromosomes Map (10 points)
__________________
8. Neatness/ creativity/ Format (10 points)
__________________
9. Sources (min. of 3) (10 points)
__________________
Total points earned:____________________
Grade out of 130 points ________________
Comments: