Download Genetic Disorder Oral Presentation Requirements

Name____________________________________ Hour of Science Class _______
What should be included in my Genetic Disorder Presentation?
How is the Disorder Inherited?
1. Your presentation should include information on how the genetic disorder is passed on from
parents to children. This could include what gene or genes are affected or in what
chromosomes or parts of chromosomes this genetic disorder occurs. Does a dominant or
recessive gene cause the genetic disorder? Or is there some other type of inheritance or
mutation? Is the genetic disorder caused by fewer or extra chromosomes, or extra or missing
pieces of chromosomes?
2. You should include any other information regarding the cause of the genetic disorder. This
could include any way that the gene has been altered such as inserting, deleting, or
substituting DNA segments. You could also include any information that explains how the
change in the gene or chromosome has affected the protein or proteins that are made by the
defective gene and how those proteins differ from the normal proteins.
3. When appropriate, you should or could include a Punnett Square to explain how the genes are
passed on to offspring.
4. What chromosome or chromosomes are affected? Are the chromosomes autosomes
(chromosomes 1-22) or is the genetic disorder sex-linked (found on the “X” chromosome)?
Does the person with the genetic disorder have fewer or extra chromosomes? Which
chromosome? If there are fewer or extra chromosomes, how did that happen (hint: explain
“nondisjunction”)? Can you get more specific as to the location of the genetic disorder? Is the
faulty gene found on the “p” arm or the “q” arm (see below)?
5. You may see in your reading that the defective gene is located on a specific
chromosome at a very specific location. For example, the location of the gene (gene
locus) for cystic fibrosis is well known. See back of this page.
CFTR: The Gene Associated with Cystic Fibrosis
Official Gene Symbol: CFTR
Name of Gene Product: cystic fibrosis transmembrane
conductance regulator
Locus: 7q31.2 - The CFTR gene is found in region q31.2 on the
long (q) arm of human chromosome 7.
Gene Structure: The normal allelic variant for this gene is about
250,000 base pairs (bp) long and contains 27 exons.
Approximate gene
location is based on
Chromosome 7 map
from NCBI Entrez
Map Viewer.
What are the outward effects and treatments of the genetic disorder?
1. Is the disorder terminal (deadly)? If so, by what age? What other physical, emotional, or
chemical problems can a person with the disorder experience?
2. What treatments/medications are given for the affected individual? What do the treatments
or medications do for the patient? How are they beneficial?
Recommendations to the Parents
1. Act as a genetic counselor and give recommendations to the parents of the likelihood of
having another child with the same genetic disorder?
2. Put yourself in the parents place and decide what you would do. Would you recommend
that they adopt if they want additional children? Is there a 25, 50, 75, or 100% chance of
them having another child with the same disorder?
3. Are there “groups” or “organizations” to help people with the disorder? What do the
“groups/organizations” offer?
Other
1. What other information might interest the reader of your brochure/pamphlet?
2. Did any famous people have the disorder?