Download Genetic Disorder Project - Mad River Local Schools

Name ________________
Genetic Disorder Project
Biology
Due Monday November 30, 2015
In this project, you will be picking your favorite gene to research and present in a
professional presentation on Monday, November 30th, 2015. The gene you pick is not going to
be an ordinary gene, for it is recognized as the cause of a genetic disorder after a DNA
mutation. For this presentation, you will discuss with your peers the location, DNA sequence,
RNA sequence, and the dysfunctional proteins associated with this gene.
Step One
Pick a Disorder/Gene or Chromosome
LMNA (Progeria)
CFTR (Cystic Fibrosis)
HTT (Huntington’s Disease)
FBN1 (Marfan’s Syndrome)
FGFR3 (Acondroplasia)
CTNND2 (Cri-Du-Chat Syndrome)
LCT (Congenital Lactase Deficiency)
DMD (Duchene Muscular Dystrophy)
HBB (Sickle-Cell Disease)
PAH (Phenylketonuria)
MECP2 (Rett Syndrome)
ASPA (Canavan Syndrome)
PRNP (Prion Disease)
FMR1 (Fragile X Syndrome)
HEXA (Tay-Sachs Disease)
ABCD1 (Adrenoleukodystrophy)
BLM (Bloom Syndrome)
NF1 (Neurofibromatosis type 1)
CYP21A2 (21-hydroxylase deficiency)
TYR (Albinism)
Trisomy 21 (Down Syndrome)
XXY (Kleinfelter Syndrome)
XO (Turner Syndrome)
F8 (Hemophilia)
Name ________________
Useful Websites
http://ghr.nlm.nih.gov/
http://www.genecards.org/
http://www.ncbi.nlm.nih.gov/genbank/
Sections of Presentation
Slide 1-Introduction/Title
In this section, you should include the following:
☐ Name of gene and associated genetic disorder
☐ Include a picture you find relevant to your presentation
☐ Both presenter names included
Slide 2- Gene Background (http://ghr.nlm.nih.gov/)
In this section, you should include the following:
☐ What is a gene?
☐ Who discovered your gene?
☐ What diseases are associated with this gene when there is a mutation? Use the
websites above.
Slide 3-Location of Gene
In this section, you should include the following:
☐ Which chromosome is your gene located?
☐ Is your gene located on the “p” or “q” arm?
☐ Is your chromosome an autosome chromosome (1-22) or a sex chromosome
(XX/XY)?
☐ Include a picture of your gene on the chromosome.
Slide 4-DNA sequence
In this section, you should include the following:
☐ How many base pairs (bp) long is your gene? (use http://ghr.nlm.nih.gov/ website and
subtract the two base pair numbers)
Name ________________
Slide 5-Mutation
☐ Review the central idea of biology in your slide
☐ What is the mutation on the gene that caused your disorder (example: point
mutation (silent, nonsense, missense), frameshift mutation (insertion, deletion), or
chromosomal mutation (deletion, duplication, inversion, translocation, non-disjunction)
☐ Put a sample of a normal DNA sequence on this gene and the mutation
☐ Include a picture of the karyotype for this genetic disorder (if it is a gene mutation
it is going to look normal)
Slide 6-Protein
☐ What is the role of a protein in the human body?
☐ How many amino acids long is the protein of your gene? (use the Gene Card website)
☐ What is the name of the protein product for your gene? (http://ghr.nlm.nih.gov/)
☐ Show a picture of the functional protein.
☐ How does the mutated protein look different (if possible, but a picture)
☐ What about the protein is affected due to the mutation in the DNA sequence?
Slide 7-Disorder Symptoms
☐ What type of symptoms does someone with this disorder show?
☐ Include pictures of someone with this disorder.
☐ Include any interesting facts about the disorder
Slide 8-Inheritance
☐ What is the mode of inheritance (autosomal dominant, autosomal recessive, sexlinked dominant, sex-linked recessive, completely random)
☐ Include a pedigree to show the inheritance pattern for this disorder
Slide 9-Works Cited
☐ Cite all pictures by either putting the website below the picture or coding letters
into your presentation for a key at the end.
☐ MLA format for citing all websites used throughout your presentation.
While I need you to include all these points in your PowerPoint presentation, it is your job to
organize this! We will have five days to work on this in class. I suggest you come with as
much done as you can in order to ask Ms. Lykens the most questions you can about the look of
your PowerPoint.
Name ________________
Favorite Gene Project Rubric
Information
Slides/Visuals
Presentation
Professionalism
Exemplary
Accomplished
Developing
Beginning
✓Information in all
slides are accurate
✓The process of
transcription,
translation is fully
explained
✓All sections are
included in the
presentation in a
cohesive,
integrative manner
✓80% information was
scientifically accurate
✓The process of
transcription and
translation is not fully
explained
✓The information in the
sections is not
integrated throughout
the presentation
✓70% of the
information
presented in
inaccurate
✓Transcription and
translation was
explained in minor
detail
✓There is little
integration
throughout slides
✓The majority of
information is
inaccurate
✓Transcription
and translation is
not mentioned
✓There is little to
no integration
✓Brief discussion
points on slide
✓No clutter
✓Visuals are used
and clearly
displayed
throughout
PowrePoint.
✓Some paragraphs of
information
✓Cluttered slides with
too much information
✓Little to no visuals in
powerpoint with
unprofessional themes
✓Many paragraph
points throughout
presentation
✓Cluttered slides
with too much or
unorganized
information
✓ Little to no
visuals in
powerpoint with
unprofessional
themes
✓Not completed
✓Large
paragraphs or not
enough
information
✓No visuals and
unprofessional
themes
✓Speaks clearly
and slowly with
detailed elaboration
✓Makes eye
contact with the
audience
✓Faces the
audience when
speaking
✓Speaks slowing and
clearly for most of the
presentation, limited
elaboration
✓Limits the amount of
time spent looking at the
screen
✓Faces the audience
when speaking most of
the time
✓Talks during other
group presentations
✓Limits questioning
✓Does not appear
professional in
appearance.
✓Speaks fast and
not clearly for most
of the presentation,
little to no
elaboration
✓Speaks to the
powerpoint screen
for most of the
presentation.
✓Reads the
powerpoint with no
elaboration
✓Does not make
eye contact with
the audience.
✓Talks consistently
during other
presentations
✓ Limits
questioning and
does not engage
✓Does not appear
professional in
appearance.
✓Asked to leave
the room during a
presentation due
to disruption
✓Does not
question peer
research
✓Does not come
to presentation in
professional
attire.
✓Listens to all
other group
presentations with
no talking
✓Ask questions
after presentations
✓Business casual
clothing, no sweat
pants or t-shirts
Name ________________
Genetic Disorder Project Grade
Introduction
1
2
3
4
5
Background
1
2
3
4
5
Location
1
2
4
5
DNA Sequence
1
2
3
4
5
Mutation
1
2
3
4
5
Protein
1
2
3
4
5
Inheritance
1
2
3
4
5
Works Cited
1
2
3
4
5
3
Comments
Peer Presentation Behavior
1
2
3
4
5
PowerPoint Appearance
1
2
3
4
5
6
7
8
9
10
Presentation Mannerisms
1
2
3
4
5
6
7
8
9
10
Elaboration of Points
1
2
3
4
6
7
8
9
10
5