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What chromosome is missing in albinism?

Published in Genetics 1 min read

Albinism is not caused by a missing chromosome. Instead, it is usually caused by mutations in genes on certain chromosomes.

Albinism is a genetic condition characterized by a lack of melanin pigment in the skin, hair, and eyes. It's not caused by the absence of an entire chromosome, but rather by mutations in genes responsible for melanin production. These mutations usually mean the body can't produce enough melanin. Different types of albinism are associated with different genes located on specific chromosomes.

Here's a breakdown:

  • Oculocutaneous Albinism Type 1A (OCA1A): This type of albinism is associated with mutations in the TYR gene, which is located on chromosome 11q14. These mutations affect the production of tyrosinase, an enzyme crucial for melanin synthesis.

In summary, while albinism is a genetic condition, it stems from mutated genes on specific chromosomes, not the absence of an entire chromosome.

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