Human Anatomy, Physiology, and Medicine. Anything human!

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Post by jonaslove23 » Wed Apr 07, 2010 1:01 am

I need lots of help with this, because I can't find any information anywhere. This is for my sophomore biology class, and its due tomorrow. I can't find half of the things that I need, so any help would be GREAT!

This is our paper, and what I have so far. The empty lines are the answers I need.

Human Genetic Disease Research

Choose a human genetic disease from the list on the back and find the following information:
Summarize in your own words. Only use terms that you understand.

Disease name: Hemophilia

Risk factors for this disease (ethnicity, gender, etc.):
Factors that may increase your chances of being born with hemophilia are: having a family history of hemophilia or other bleeding disorders, and being a male. Females are much less likely to be born with hemophilia than males.
How many per thousand births have this disease? (Cite source with details)
1.2 in 1,000

Inheritance pattern (include all that apply)

Type of mutation (include all that apply)
Point mutation

Gene name/ Chromosome number/ Location:
Gene: F8 (coagulation factor VIII, procoagulant component)
Chromosome: 21
Location: base pairs 153,717,259 to 153,904,191

Specifically describe the mutation:

Protein coded for:

Describe the function of the normal protein:
The normal protein makes blood clot properly, which doesn’t cause any problems.

Describe the difference between the normal protein and the defective one:

Symptoms of the disease:
Some symptoms of hemophilia are:
• Many large or deep bruises
• Joint pain and swelling caused by internal bleeding
• Unexplained bleeding or bruising
• Blood in your urine or stool
• Prolonged bleeding from cuts or injuries, or after surgery or tooth extraction
• Nosebleeds with no obvious cause
• Tightness in your joints

Explain how the genetic mutation causes the disease symptoms:

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Post by david23 » Wed Apr 07, 2010 1:49 am


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