Achondroplasia

aper on a Selected Genetic Disorder Fall 2020
Students will read about a genetic disorder selected from the list provided by the
instructor and write a short paper that includes the answers to the questions below.
The paper is due on
Wednesday, December 2nd at 10 PM
in the D2L drop box
“Genetic Disorder Paper”.
General Requirements
. The paper must have a cover page which should include the
title, author’s name, and the date. Your paper must be written in complete
sentences and carefully proofread for typographical/spelling errors. The paper must
be written in 11-12 point font, and double-spaced. Please use a sans serif font such
as Verdana. Each page must be numbered and the margins should be no more than
1.0 inch. The completed paper should be about 5-8 pages in length.
Literature Cited
You must cite at least three sources in writing your report. Suitable
sources of information include the OMIM website, textbooks, review articles, and
primary literature.
References should be prepared according to the
Publication Manual of the American
Psychological Association
(6th edition). This means in text citations should follow
the author-date method whereby the author’s last name and the year of publication
for the source should appear in the text, for example, (Jones, 1998). The complete
reference list should appear alphabetically by name at the end of the paper.
A sample of the most common entries in reference lists appears below. Please note
that a DOI should be provided for all references where available. For more
information about APA referencing style, please refer to the
APA FAQ
. Please note
that for journal articles, issue numbers are not included unless each issue in the
volume begins with page one.
Journal article example
Beers, S. R., & De Bellis, M. D. (2002). Neuropsychological function in children with
maltreatment-related posttraumatic stress disorder. The American Journal of
Psychiatry, 159, 483–486.
doi
:10.1176/appi.ajp.159.3.483
Book example
Bradley-Johnson, S. (1994).
Psychoeducational assessment of students who are
visually impaired or blind: Infancy through high school
(2nd ed.). Austin, TX: Pro-
ed.
You will have to read broadly to gather information needed to understand and
present the disorder you choose. I recommend that you start with general
references including your introductory biology and genetics textbooks, and perhaps
a text on human anatomy and physiology. Your reading may include entries in
Wikipedia, and articles from reputable sources such as the Mayo Clinic, and
MedlinePlus. NORD, the National Organization for Rare Disorders has information on
several of the conditions listed, and some conditions have web pages that provide
information and support for affected individuals.
OMIM, Online Mendelian Inheritance in Man, is a website that will provide much of
the information you will need for the paper. OMIM is a vast database of human
genetic information initiated in the 60’s by Dr. Victor McKusick.
https://omim.org/
https://omim.org/help/faq
https://omim.org/search/advanced/entry
1. Name of the disorder, OMIM accession number AND gene name and accession
number.
2. Description of disease phenotype.
3. Frequency of occurence.
4. Inheritance pattern (e.g. autosomal dominant)
5. Level of penetrance
6. Chromosomal location (e.g. 8p32.1)
7. Protein product of gene. Describe the normal function of the protein product and
how this is disrupted by the mutation. Relate this information to the observed
phenotype.

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