The Genetics of Skin Color: Is Pale Skin Related to Albinism?

references : Voight BF, Kudaravalli S, Wen X, Pritchard JK (2006) A map of recent positive selection in the human genome. PLoS Biol 4(3): e72. Spritz RA, Fukai K., Holmes SA, and Luande J. (1995). Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). Am J Hum Genet. 1995 June; 56(6): 13201323. Lamason RL, Mohideen M, Mest JR, Wong AC, Norton HL, et al. (2005) SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. Science 310:17821786



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Albinism and some related facts

Albinism refers to the group of inherited conditions. People suffering from albinism have little or no pigment in the skin, hair, eyes, or (in some cases) only in the eyes. The people who have inherited an altered copy of albinism in this disease in one of their parents who are not working properly. The gene is inherited from the parents are not allowed to produce the human body is known to the average amount of pigment asMelanin.

Around 16,000 people are suffering in a one of the types of albinism. The parents of children with albinism, a normal eye color and normal hair for their racial background and do not have to be in the family of albinism. Photophobia, sunburn, nystagmus, fluctuating vision strabismus only some of the effects of albinism.

In rare cases albinism with systematic diseases, among which the most generally associated HPS wasHermansky Pudalk syndrome. Abnormalities of granules in the platelets in the blood causing a disturbance of the bleeding and accumulation of the chemical known as ceroid.

Lung and gastrointestinal problems can also develop with the inability to use the full extent of the colitis and the lungs expand. To diagnose HPS, should be used electron microscopy to investigate the platelets in the blood. Apart, sometimes albinism was also associated with CHS - Chediak-Higashi syndrome, Angelman syndrome,and Prader-Willi syndrome.

People suffering from albinism are looking at much of the disturbing aspects of the various. Pink eye and skin, platinum or white hair, thick glasses, eye zero or unusual head positions and the need to hold reading material close, unfortunately, increased deviations from the individual suffering.

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The Genetics of Skin Color: pale skin is related to albinism?

References: Voight BF, Kudaravalli S, Wen X, Pritchard JK (2006) A map of recent positive selection in the human genome. PLoS Biol 4 (3): E72. Spraying RA, Fukai K, Holmes SA, and Luande J. (1995). Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). Am J Hum Genet. June 1995, 56 (6): 13,201,323th Lamason RL, Mohideen M, most frequently JR, Wong AC, Norton HL, et al. (2005) SLC24A5, a putative cation exchanger affects pigmentation in zebrafish and ...



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