Albinism

A detailed Summary of Albinism


For my research project I have chosen the genetic disease albinism. There are a few reasons why I chose albinism as my topic. The number one reason would be in 8th grade when I was expelled from Toll ,they sent me to Rosemont ,and in my first period class I had a girl who was an albino, and although I have not seen her for a year ,but I am still curious as to what the causes of albinism are. Back then my mom explained it to me by saying that is how there skin is ,they are born like that which is a fine answer, but now as I am older by 2 years I wonder why they are really like that. Another reason I am curious about albinism is what is the chance of my kids getting that disease. I often wondered if there was any chance that my kids could possibly be born with it. I know now that it sounds a little bit stupid ,but I would sometimes worry that I wouldn't be able to take my children to the beach. I also used to wonder whether or not the girl in my first period class could see the same way I could, since his eyes looked so different from mine.

The most obvious characteristic of a albino is their pale skin. Albino skin is white in appearance. Similarly, albino hair is also very pale, appearing closer to white


Albinism is located on chromosome 11q 14-21. The gene associated with albinism is called OCA1. OCA1 codes for the protein tyrosinase. This protein is responsible for converting tyrosine into something called DOPA. DOPA plays an important part in the formation of melanin by next becoming dopaquinone. Dopaquinone then forms black-brown eumelanin or red-yellow pheomelanin. Melanin is a pigment, the absence of which causes albinism. Albinism occurs when something causes the OCA1 gene to function improperly. This improper function disrupts the production of tyrosinase. With tyrosinase production malfunctioning, it is impossible for the body to make DOPA and as a result the body is also prevented from making melanin. The absence of melanin causes the lack of color in the skin of people



Some common words found in the essay are:
, DOPA DOPA, OCA TYR, OCA1 OCA1, United Albinism, period class, girl period class, people albinism, girl period, skin albino, chance kids, causes albinism, albinism affects, lack color,

Approximate Word count = 807
Approximate Pages = 3 (250 words per page double spaced)

Category: Science

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