Albinism is most commonly caused by a mutation in the P gene located on chromosome 15.
Understanding the Genetic Basis of Albinism
Albinism is a group of inherited disorders characterized by a lack of melanin, the pigment responsible for skin, hair, and eye color. Several different genes can be mutated, leading to various types of albinism, each with varying degrees of severity. However, the most frequent type arises from a specific genetic alteration.
The Role of the P Gene
The P gene (also known as the TYR gene) provides instructions for making an enzyme called tyrosinase. This enzyme is crucial for the production of melanin. A mutation in the P gene disrupts tyrosinase production, leading to a significant reduction or complete absence of melanin.
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Mechanism: The mutation can prevent the gene from producing functional tyrosinase, or it can create a malfunctioning enzyme that doesn't work efficiently. This results in a deficiency of melanin, causing the characteristic features of albinism.
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Location: As stated in the provided reference, this crucial P gene is found on chromosome 15. This chromosomal location is important for understanding inheritance patterns of this specific type of albinism.
Other Genes Involved
While the P gene mutation is the most common cause, it's important to remember that other genes also play a role in melanin production. Mutations in these genes can also cause different forms of albinism. These variations can impact the severity of the condition and the specific symptoms experienced.
