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Genetic Disorders

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zesugabu's version from 2016-04-06 15:27

Section 1

Question Answer
What are 2 genetic basis' of Xerodoma Pigmentosum?Mutation that causes XP-C to function ineffectively, Body fails to properly repair DNA damaged by UV light
What are two statistics of Xerodoma Pigmentosum?1 out of 250,000 people have it in the US, Most common in Japan, North Africa, & Middle East
What are two symptoms of Xerodoma Pigmentosum?Long lasting sun-burn, Blistering after short amount of time exposed to sun
What are two treatments of Xerodoma Pigmentosum?No known treatment, Preventative measures include: covering skin/eyes when exposed to UV rays
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Section 2

Question Answer
What are 2 genetic basis' of Nail Patella?Associated with ABO blood type, Mutations within chromosome 9q34.1
What are 2 statistics of Nail Patella?1 in 50,000 people are diagnosed, Not ethnic specific
What are 2 symptoms of Nail Patella?Fingernails develop incorrectly, Hypoplasia in development of knee caps
What are 2 treatments of Nail Patella?Surgery replacing knee caps, Physical therapy to treat spinal problems
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Section 3

Question Answer
What are 2 genetic basis' of HYPP?Mutations of the sodium channel gene, HYPP came from the Quarter Horse Sire, Impressive
What are 2 statistics of HYPP?Horses 1-4 years of age are primarily affected, 4% of quarter horses suffer from this
What are 2 symptoms of HYPP?Frequent episodes of muscle tremors/twitches in head, neck, hindquarters, Temporary paralysis that can last anywhere from minutes to hours
What are 2 treatments of HYPP?Potassium-free fluids, Administration of diuretics such as acetazolamide
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Section 4

Question Answer
What are 2 genetic basis' of Huntington's Disease?Defective gene found on 4th chromosome, Triple repeat expansion of CAG
What are 2 statistics of Huntington's Disease?Average age of diagnosis is 40 years old, 1 in 10,000 people in America are affected
What are 2 symptoms of Huntington's Disease?Memory loss, decrease in muscle function
What are 2 treatments of Huntington's Disease?Dopamine blocking drugs, no known cure
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Section 5

Question Answer
What are 2 genetic basis' of Albanism?Complete absence of melanin pigment in hair, skin, and eyes, Mutations in the G protein-coupled receptor
What are 2 statistics of Albanism?1 in 17,000 people have some form in the US, Most prevalent in Aftica
What are 2 symptoms of Albanism?Absence of color in hair, skin, and eyes, Patches of skin develop absence of color
What are 2 treatments of Albanism?Sunscreen, UV resistant clothing and sunglasses
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Section 6

Question Answer
What are 2 genetic basis' of Achondroplasia?Autosomal dominant trait, Mutation in FGFR3 (growth receptor)
What are 2 statistics of Achondroplasia?Most common form of human dwarfism, 1 in 15,000 and 1 in 40,000 live births affected
What are 2 symptoms of Albanism?Short stature, Short limbs & bowed legs
What are 2 treatments of Albanism?Bracing for curvature of spine, surgical limb lengthening
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