albinism

GENETIC AND CELLULAR ORIGINS

Albinism is located on chromosome 11q 14-21. I’m sure that greater (or at least better-equipped) minds than mine have wondered what direction research in albinism should take, but in my opinion they should look into a cure for the disorder. Albino skin is whitish in appearance, sometimes seeming to be almost translucent. DOPA plays an important part in the formation of melanin by next becoming dopaquinone. It is probably also possible to use RFLP markers to test for the presence of albinism, but again the number of different mutations that cause albinism is high enough that the efficiency of such a test would be greatly in question (1,4,5). Melanin is a pigment, the absence of which causes albinism (2). My knowledge of this disorder has come a long way since my curiosity about my kindergarten friend. Is there some way we can stimulate the OCA and TYR genes into correctly performing their jobs, or maybe introduce melanin directly into those suffering from this disorder? I think that once our scientists and researchers better understand the human genome and it inner workings, the cures for genetic diseases like albinism will follow shortly after. This means that two parents who have albinism, and who possess two recessive alleles each for albinism will produce affected children 100% of the time. I would imagine that if there were one it would be similar to other genetic tests we have studied. It is possible to have albinism that affects the eyes without also affecting the skin. This is known as ocular albinism (3). Albinism also affects people of all races equally. People with albinism also sometimes demonstrate an involuntary back and forth movement of the eyes called nystagmus. Cases of extreme nearsightedness or farsightedness that cannot be completely corrected with eyeglasses are also common.