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DNA to Disease
Academic Biology
Name: ______________________________________________________________ Period: _______________
Connecting the dots . . . DNA to DISEASE
Introduction:
So far, we’ve learned that DNA is the genetic material that organisms inherit from their parents, but
have you thought about what exactly is encoded for by this DNA? How do our cells use DNA as a set of
instructions for life? How is the information in our DNA and genes used by our bodies? And what happens
when DNA is mutated or not used properly?
In this lab, you will model the work of real scientists and physicians! Imagine you are a geneticist. A patient has been referred to you from
their family physician because they are exhibiting symptoms that may be indicative of a genetic disorder or disease. You get a sample of their DNA
and locate a particular gene of interest. Your job will be to transcribe and translate the gene. You will then use a website created by the National
Institutes of Health, and used every day by real scientists, to determine what protein is encoded by the DNA sequence. You will then determine
with which disease or disorder your patient is inflicted! You will then create a presentation to inform your colleagues about this disease or
disorder during our study of human genetics!
Procedure:
1. Obtain a DNA sequence from your patient afflicted with an unknown genetic disorder or disease. Patient #___________
2. Attach the coding DNA sequence below.
Coding DNA:
Non-coding (complimentary) DNA:
3. Convert your DNA sequence into an mRNA sequence (write it in triplet codons):
4. Translate the codon sequence into an amino acid sequence (using single letter abbreviations):
DNA to Disease
Academic Biology
5. Go to http://blast.ncbi.nlm.nih.gov/Blast.cgi and choose “Protein BLAST”.
6. Enter the one-letter abbreviations for your amino acid sequence in the SEARCH box. (Be sure to enter them in the correct
order with no spaces or commas!)
7. Under the “Database” option, select the option for “reference proteins”.
8. For the “Organism” option, type in “human”.
9. Click “BLAST”. The page will refresh several times and it may take a few minutes to process your sequence. At this time, the
program is comparing your sequence to all the known protein sequences in the human genome.
10. At the next page, scroll down to the list of sequences producing significant alignments to your sequence. Choose the first one (it
has the highest score). This means that this protein is the most similar to the sequence of amino acids that you entered.
11. The protein my DNA sequence encodes is: ________________________________.
12. Click “NP # ” next to the name of your protein on the left. On the reference page, scroll down to the “summary” for your
protein.
13. Read the summary. It will tell you with which genetic disease or disorder your protein is involved!
14. Now you know the name of the condition with which your patient is afflicted! My patient has the following disease:
Patient #___________ has ____________________________________________.
15. Check this information with your teacher.
___________ teacher check of above information
16. After successful check-off, your teacher will give you a copy of the instructions and rubric for the presentation you will now
start research on.