Notes

HELP ME COMPLETE THIS PROJECT BELOW ON THE TOPIC; HEMOPHILIA. ONCE AGAIN BASE THIS ON HEMOPHILIA. Here is a template for the slides, slide 1: Introduction (with Symptoms and Commalinty), Slide 2:Gene Affected, Slide 3: Inheritance, Slide 4: Phenotype, slide 5: Relation to Evolution, Slide 6: SOURCES YOU MUST CITY ALL OF THE SOURCES THAT YOU USED TO RESEARCH THIS PROJECT. MAKE EACH SLIDE HAVE A GOOD AMOUNT OF INFORMATION ON It (enough to explain but don't overly explain about a couple of few sentences per bullet point. directions are below. go





Prepare a presentation outlining this disorder. You are not restricted to, but you must include the following:
General explanation of disorder and symptoms, along with the commonality.
Specify the specific gene(s) and/or chromosome(s) involved (if multiple genes/ chromosomes are involved, you can list major ones, but focus on one for the rest).
For the one that you pick, focus on the following…
Describe the chromosomal or genetic defect (mutation) leading to the disorder.
Which protein(s) does it affect?
What is the normal function of this/these protein(s)?
How is this protein affected by the mutation? (structure & function)
How does this faulty protein (mutation) lead to the physical symptoms? (Phenotype).
Inheritance Pattern (if known) - ex: autosomal dominant, autosomal recessive, sex-linked (and include a picture) or risk factors if inheritance pattern does not apply (nondisjunction)
Connection to Class: Connect your disorder to at least one of the following.
Polygenic
Pleiotropic
Epistasis/ epigenetics (gene expression)
Penetrance/ Expressivity
Linked Genes
Here is where you can also include whether it is completely dominant, incomplete, codominant (again, depending on disorder).
Relationship to Evolution: Think about your genetic disorder and do some research. Why is this genetic disorder still present in the population (maybe more present in a specific population)? Does it provide any benefits (like maybe in heterozygotes/ carriers)?
Research allele frequency in population (based on this, do you think there is positive selection for the gene?)
Research possible benefits for positive selection if applicabl;e (for example: of being a heterozygote - think back to sickle cell anemia)
If no benefit, Research potential hypothesis/ explanations
Due to Gene Flow?
Due to Genetic Drift?
**Connect to content from class about evolution.
Include graphics (pictures and/or karyotypes).
You must include a bibliography with at least four reputable scientific sources. (Can be copied and pasted in speaker notes as well).
DO NOT USE .com sites unless approved by me. Good sources include .edu, .gov (mostly), .org, and any peer-reviewed scientific research from a reputable journal. Formatting can be simply the URL, MLA, Chicago, other formats are okay but not required.
Medline Plus
OMIM
Make sure you make connections between the concepts you are researching to show understanding (CENTRAL DOGMA).
Sample - Sickle Cell Anemia
Rubric

TIPS:
Try to be as detailed as possible in your research and explanations.
This is not a medical presentation. You should include treatments/symptoms (along with a description of your disorder), but this presentation should focus more on the inheritance patterns, mutations, and how those things lead to faulty proteins.

Genetic Disorder Project Clarification - Depending on your disorder, you may not be able to apply inheritance patterns (nondisjunction) or the "complex genetics", so you can explain that in your research about WHY it doesn't fall underneath that content (ex: risk factors that cause down syndrome like age, environmental factors, etc.).