Topic > Essay on Xeroderma Pigmentosum - 601

Xeroderma PigmentosumMia GrinerGenetics HonorsMr. BassoMarch 14, 2014Xeroderma Pigmentosum is a genetic disease caused by a mutation in one of seven genes. This genetic mutation is an autosomal recessive trait. This disease was discovered in 1874 by Hebra and Kaposi. People suffering from this disease cannot expose themselves directly to sunlight, otherwise blistering may occur on the skin. There are only about 250 people in the world affected by 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 then began, leading to the discovery that the disease was caused by a generic mutation rather than a virus or bacterium. Xeroderma Pigmentosum, or XP, is caused by a mutation in one or more of any seven genes. The first type of mutation that can occur is XPA, caused by a mutation of 9q22.3. This means that the mutation occurred in the ninth chromosome of the long arm, q, 22.3 map units from the centromere, or center, of the chromosome....