Xeroderma Pigmentosum Essay

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Xeroderma Pigmentosum
Mia Griner

Genetics Honors
Mr. Basso
March 14, 2014
Xeroderma Pigmentosum is a genetic disorder caused by a mutation in one of any seven genes. This genetic mutation is an autosomal recessive trait. This disease was discovered in 1874 by Hebra and Kaposi. People with this disease cannot have direct exposure to sunlight, or blisters on the skin may occur. There are only about 250 people in the world with this disease.

Xeroderma Pigmentosum was discovered by Hebra and Kaposi in 1874. Kaposi coined the term Xeroderma Pigmentosum eight years later, using the name to describe the symptom of dry, pigmented skin. Further research began after this, leading to the discovery that the disease was caused by a generic mutation instead of a virus or bacteria.

Xeroderma Pigmentosum, or XP, is caused by a mutation in one or more of any seven genes. The first type of mutation that may occur is XPA, caused by a mutation of 9q22.3. This means that mutation occurred in the ninth chromosome on the long arm, q, 22.3 map units from the centromere, or middle, of the chromosome....

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