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Genetic Information

Chromosome #: The genes for producing the enzymes related to ty-neg albinism is located on chromosome 11.

Gene/Protein Name: A specific genetic abnormality causes tyrosinasenegative. In this type, also called "ty-neg albinism," the body is unable to convert the amino acid tyrosine into pigment.

Protein Function: In albinism, the body does not produce enough of a pigment called melanin, which creates hair, skin and eye color. When melanin is not produced people typically have white or yellow hair, pale skin, and light blue or gray eyes.






Disorder Type: Albinism is a gene mutation and is autosomal recessive due to substitution (nucleotide) mutation.

Children inherit the genes for albinism from their parents. The parents may have normal pigmentation, but if both the mother and father carry a recessive gene, there is a one in four chance their child will have albinism.











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Albinism

By Meghan