Name(s): ______Period: ______Date: ______
Genetic Disorder Project
(Adapted from Nancy Lee, Briarcliff High School, Summer Research Program for Science Teachers August 2006)
Working as a team, you will research and organize your findings about a particular genetic disorder. In your group you will decide who will research and explain the following areas about your disorder.
Identify Disease Gene(s) - Using the National Center for Biological Information (NCBI) website perform a BLAST search to compare nucleotide sequences, analyze results, and identify the genetic disorder.
1) Go to the NCBI website ( Click on “BLAST.”
2) Scroll down to “Basic BLAST” and click on the link for “Nucleotide Blast”. Have on person in your group read your nucleotide sequence out loud while someone else types the exact nucleotide sequence into the large box.
3) What patterns did you notice about your sequence as it was being typed in?
______
4) Now scroll to the bottom and click on the “BLAST!” button. Once the new page appears, BE PATIENT! It may take a minute or two to get your results!
5) When your full results appear, scroll down to the Graphic Summary, the section with the horizontal colored lines. Carefully move your mouse on the start of the first colored line. The phrase “Mouse-over to show defline and scores, click to show alignments” in the white box change will change to indicate the name of the gene associated with the nucleotide sequence you typed in.
6) Move the mouse along each of the successive colored lines. Note that the information that appears in the white box is the same as the information in the next section, “Descriptions.”
A. What seems to be the name of your human gene?
.______
Now that you’ve identified your gene, it’s time to learn more about it.
7) Click on the BLAST logo at the top of the page to get back to the NCBI webpage (
8) Click on “Genetics and Medicine” and then on “Genes and Disease.” An online book will load.
9) Enter the name of the gene or genetic disease associated with your nucleotide sequence in the search box at the top of the page and click “Search”.
10) Use the Genes and Disease book as well as at least 3 other sources to answer the questions below. .
B. Causes: Autosomal or sex-linked? Chromosome (which #) or Gene mutation (which gene)?
C. The Pattern of Inheritance:
Single Allele dominant / Polygenic / NondisjunctionDouble Recessive Alleles / X-Linked
Multiple Allele / Sex-Influenced
D. Characteristics of the Disorder:
Alternative names of the disorder.
Frequency: how many people in the world have this, how many babies a year are born with this? Traits/behaviors/ characteristics/syndromes .
How does the disorder affect the individuals with the disorder?
What is it like to have it.
Problems associated with the disorder.
Is it life threatening, physically limiting?
E. Treatments: Therapies, Medications, Life-style adaptations, Education, Precautions
F. Prevention: Can it be prevented? If so, HOW? If not, WHY?
G. Testing: Can it be detected? If so, HOW?
H. Other Information:
Are there interesting facts or statistics about your disorder?
Are there populations, ethnicities, or communities that are preferentially affected?
How will this disorder affect a person’s quality of life?
What can parents do/learn about to ensure a healthy happy life?
I. Pictures: a screen shot of chromosome with location highlighted, physical location (basepairs), or another picture associated with the disease (person, gene, etc.)
J.Four (4) references are required, from credible, varied sources, with proper MLA citation.