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by Savannah Brown and Liz Grayson

Savannah Brown

on 15 March 2011

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Transcript of Albinism

Albinism What is albinism?
Albinism is the defect of melanin production

It leads to little to no color in the skin, hair and eyes.

The word Albino comes from the Latin word Albus, meaning white. (2) (3) Who discovered albinism?

Albinism was discovered by a man named Sir Archibald Garrod in the year 1908. He was the first man to scientifically recognize and research the disease. He then published his findings in a book called The Inborn Errors of Metabolism in 1909. (6) Types of Albinism (1) (3)

Oculocutaneous albinism type 1 or OCA1 is a defect in the tyrosinase (TYR) enzyme causing it to be inactive and there is no melanin production on chromosome 11. The effects are white hair, light skin and light irises.

Oculocutaneous albinism type 2 or OCA2 is a genetic defect in the P protein that aids the TYR on chromosome 15. The effects are creamy white skin and light blonde or brown hair.

OCA3 is rare. It is a defect in the TYR1 protein, which also helps tyrosinase on chromosome 9. The effects are red-brown skin, red hair, hazel/brown eyes.

OCA4 or is a defect on the SLC45A2 protein also and aid to TYR on chromosome 11. The effects are similar to that of OCA2

Ocular albinism is a defect in the GPR143 gene. The only thing different about this type of albinism is that the GPR143 gene is on the X chromosome, making this the only sex-linked type of albinism. (1) Diagnosis

Albinism is present and diagnosed at birth.
Genetic testing is the most accurate way to diagnose albinism. When doctors are unsure they can preform an electroretinogram test, which reveals the vision problems usually linked to albinism. Some of the symptoms used to help diagnose the disease are:
Cross eyed
Poor vision
Rapid Eye Movement (REM) (5) Is it sex linked?

Types 1,2 and 3 are not sex linked but they are inherited. Ocular type 4 albinism is sex linked. Females tend to be carriers and males recievers. Karyotype

The karyotype or chromosome map for Albinism looks no different than that of a normal person because it is not a mutation of the chromosome it's self but a defect of a enzyme on chromosome 15,9, 11, X but these karyotypes show you where on the chromosome the defect occurs Frequency in the population
1 in every 17,000 people has a type of albinism
18,000 people in America have albinism
OCA1 is 1 in every 40,000 in most populations
OCA2, most common among Africans and African-Americans, occurs 1 in every 10,000 African-Americans Treatments and Mortality Rates (5)

There is no cure or treatments to make albinism go away or prevent it.
But there is treatments and preventions for safety reasons such as:
Avoid the sun, use sunscreen and cover up completely with clothing when in the sun
Use sunscreen with a high SPF
UV protected sunglasses can relieve light sensitivity.

Albinism doesn’t affect mortality. They live a regular life span. Bibliography!





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