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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