Page 148 - 86 human physiology part-2

Genetics and Inheritance

cells made by DNA technology. This concentrate is what the hemophiliac is lacking in their own genes.
After the injection is given the patients blood becomes "normal" for a couple of hours which gives time
for a clot to from at the site of a damaged blood vessel. This treatment is not a permanent cure, within
about 3 days there is no trace left in the system. Today's Factor treatments are much more concentrated
than they were in the past so very little is required even if the patient is going in for major surgery or
has a major injury. Treatments are also very convenient, they can be stored at home in the fridge for up
to 6 months. So if the patient is injured they don't need to go to the hospital they can give themself an
injection at home. After the injection it only takes about 15-20 minutes for the clotting process to
begin. There is a risk of contracting other disease such as AIDS from Factor VIII that is made from
human plasma, but as technology gets better the cases of AIDS has dropped. There is no possibility of
contracting diseases from genetic engineering Factor VIII.

Hemophiliacs can live a long life. The most common reason for early death among patients has
been from AIDS related complications.

Genetic disorders

• EXAMPLES
• Huntington's chorea

• autosomal dominant
• progressive dementia
• uncontrollable movements of the limbs
• symptoms are not apparent until after age 40

• Marfan's syndrome

• autosomal dominant
• occurs equally in genders
• occurs each generation
• occurs in approximately 1/2 of children but may be all or none
• expression usually seen later in life
• In the punnett square risk H = Huntigton's gene / h = normal gene

H h

h
H Hh
h
h
h Hh
h
• 50% chance of contracting Huntington's gene/50% chance of no disease

• EXAMPLE
• PKU

• inherited metabolic disorder
• inability for body to convert phenylalanine to tyrosine

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