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Albinism

Albinism is a genetic disorder caused by homozygous alleles in one of three chromosomes: 11, 15, or X. There are three types of albinism: oculocutaneous albinism type 1, oculocutaneous albinism type 2, and x-linked ocular albinism. Though the characteristics of each type of albinism are very similar, there are a few distinct differences. Oculocutaneous albinism type 1 occurs due to mutations in the TYR (a.k.a OCA1) gene located in chromosome 11. The TYR gene is responsible for providing the instructions needed to produce tyrosinase, a natural enzyme, located in specialized melaninproducing cells called melanocytes. Tyrosinase is needed to convert a neutral amino acid called tyrosine into dopaquinone- which is then converted into melanin. The melanin produced from these cells is the substance that gives skin, hair and eyes their colour. It is also found in the light-sensitive tissue at the retina of the eye, which is necessary for normal vision. The mutations that occur in the TYR gene cause the tyrosinase in the body to stop working. When the bodys tyrosinase stops working, tyrosine can no longer be chemically converted into dopaquinone- which in turn can not be converted into melanin. The lack of melanin in the body results in white hair, light-coloured eyes, and very pale skin that does not tan. Vision problems often occur as well, due to extreme sensitivity to light. Oculocutaneous albinism type 2 occurs due to mutations in the OCA2 gene located in chromosome 15. People with this type of albinism usually have light hair (white-yellow, blonde, or light-brown), creamy white skin, light-coloured eyes, and vision problems. The OCA2 gene is responsible for providing the instructions to make a protein called the P protein, which is found in melanocyte cells. It is unknown what exactly the P protein does in these cells, but it is necessary for normal pigmentation and is thought to be involved in the production of melanin. Researchers believe that the P protein may help regulate the pH of the production location of melanin in melanocytes (pH affects the productivity of enzymes in the body). There are many mutations that occur in the OCA2 gene that are linked to oculocutaneous albinism type 2. The most common mutation is a large deletion in the gene (which is found in many affected sub-Saharan African albinos). Other mutations, such as changes in single DNA base pairs and small deletions, are also common. The mutations that occur in the OCA2 gene generally interrupt the normal production of melanin in the body, weakening vision and reducing the colouring of hair, skin and eyes. X-linked ocular albinism occurs due to mutations in the GPR143 gene located on the x-chromosome. Since this type of albinism is x-linked, it is most common in males. People with this type of albinism will often have blue eyes with the expected skin and hair color of their genetic background. Crossed-eyes or lazy eyes are often present as well. Most of the mutations that occur in the GPR143 gene result in a change in the size or shape of the proteins created by the genes code. These changes prevent the proteins from reaching the melanocytes, where they are responsible for regulating the growth of the melanin-production area. Without the GPR143 protein entering the bodys melanocytes, the melanin-production area grows abnormally large. This growth results in the hindrance of melanin production, which weakens the persons vision.

References Albinism. (2002). In The Encyclopedia Americana: International Edition. Danbury, Connecticut: Scholastic, Inc. Albinism. (2005). In J. E. Safra (Ed.), The New Encyclopaedia Britannica (15th ed., Vol. 2, p. 220). Chicago: Encyclopaedia Britannica, Inc. Boissy, R., & Jacob, T. (2009). Ask the Experts. Scientific American, 300(6), 84. Genetic Counseling Clinic. (n.d.). Retrieved from Hadassah Medical Organization website: http://www.hadassah.org.il/English/Eng_SubNavBar/Departments/Medical+departments/Ophtalmology/Mich aelsons+Institute/Michaelson+Institute+Sub-Clinics/Genetic+Counseling+Clinic.htm Jasmin, L. (2009, October 14). Albinism. Retrieved December 2, 2011, from Departments of Anatomy and Neurological Surgery, University of California, San Francisco, California website: http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm OCA2. (2011, October). Retrieved from U.S. National Library of Medicine website: http://ghr.nlm.nih.gov/gene/OCA2

Ocular Albinism. (n.d.). Retrieved April/May 28, 2011, from Georgia Gwinnett College website: http://wiki.ggc.usg.edu/wiki/Ocular_Albinism Ocular Albinism. (1995). Retrieved from The National Organization for Albinism and Hypopigmentation website: http://www.albinism.org/publications/ocular.html Ocular Albinism. (2007, July). Retrieved from U.S. National Library of Medicine website: http://ghr.nlm.nih.gov/condition/ocular-albinism Ramsay, M., Colman, M.-A., Stevens, G., Zwane, E., Kromberg, J., Farrall, M., & Jenkins, T. (1992). The Tyrosinase-positive Oculocutaneous Albinism Locus Maps. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682821/pdf/ajhg00068-0198.pdf Surratt, P. (2000). Albinism. Monkeyshines On Health & Science, 24. TYR. (2011, December 5). Retrieved from U.S. National Library of Medicin website: http://ghr.nlm.nih.gov/gene/TYR

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