Introduction
There is a tremendous amount of important genetic information available online, in
fact, some information is really available only online. However, the Genbank
and OMIM scientific databases are very technical and are too difficult for most
people to use. These are typically databases that a scientist would access for large
amounts of detail that a general audience might not need. A potential solution to this
would be entries written for a general audience in the open source Wikipedia
encyclopedia project.
I would like you to to put your genetics knowledge to some use by researching a
human genetic disease using Genbank
, OMIM
and other specialized databases, and then writing a report for the Wikipedia
that summarizes the key information about the gene.
Your writing assignment should include the following discussions:
1. What is the function of the normal (not mutated) gene?
2. Discuss the mutations responsible for the most common alleles, at both the DNA
level and the protein level (point mutations, insertions, missense, frameshift, etc.).
**Update, please note, if you pick a disorder that has a chromosome deletion, you
need to list every gene that is lost and discuss known mutations for those genes**
3. Whether the mutant alleles (usually a disease causing allele) are dominant or
recessive, the consequences of inheriting the mutant allele (what are the symptoms,
how is the disease treated, what is the prognosis for an afflicted individual, etc.), the
frequency of the mutant allele in the population.
4. Since genetic diseases are inherited, a family wanting to have a child could
consult with a medical geneticist before getting pregnant especially if there is a
known family history. Why might genetic counseling be useful for such parents? Do
you believe that this should be mandatory or simply optional (they can have the
results without counseling if they wish)?
Formatting of this writing assignment
1. The minimum number of words for this writing assignment is 250 words (not
including references)
2. 1 inch margins, double spaced, Use a font size of 12 point. Font choices can be
Times New Roman, Arial, Verdana.
3. References must be cited appropriately and you must use either APA or MLA
style. References must include primary articles. You CANNOT reference a wikipedia
article or a non-scientific journal (i.e. Time, Vogue, Cosmopolitan, The New Yorker,
etc).
4. Please do not plagiarize as that will result in an automatic F on the assignment.
You also may not directly quote text. Please remember your plagiarism tutorial.
5. You must submit this online either in .DOC, .DOCX, or .PDF format. No other
format will be allowed.
How do you pick the gene?
1. Every student in this class must pick a different gene. You must email me your
choice and I will record that choice. failure to email me and have me approve will
result in a 5 point deduction.
2. You may not use Sickle Cell Disease since that is what we have covered in this
unit.
3. To help you, Wikipedia has a list of every genetic disorder known to man:
https://en.wikipedia.org/wiki/List_of_genetic_disorders
(opens an external site)
4. Advice, before you just randomly pick a disease, take the time to read up a little bit
about it. You could also pick a disease that maybe a family member or friend has and
research more on that topic.
Start your search at the Online Mendelian Inheritance in Man (OMIM)
site. Type your search term, found at the Wikipedia list of genetic diseases
, into the search field located near the top of the screen, in the gray bar after “Search
OMIM for”. vYou can type in either a known genetic disease, from the Wikipedia list
of all of the genetic diseases
链接到外部网站。
, or just the name of a protein or phenotype you are interested in. You should get a
long list of database entries that include your search term. Click on the number on
the left that is next to the result that looks most promising.
The descriptions in the databases sometimes get a little technical with many medical
terms, so the following medical dictionaries might be helpful – Medterms Medical
Dictionary Index,
and Webster’s Medical Dictionary
.
Resources that may be helpful:
OMIM: https://www.ncbi.nlm.nih.gov/omim
This is a searchable database with information about most known human genes
and genetic diseases. It includes phenotypes, inheritance (dominant, recessive,
etc.), chromosomal location, different alleles, information about the gene (if it has
been cloned), and a bibliography.
GeneTests/GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/
