Albinism is primarily determined by genes located on chromosome 11.
Understanding Albinism and Chromosome 11
Albinism is a group of inherited disorders that affect the production of melanin, the pigment responsible for skin, hair, and eye color. The lack of melanin results in characteristic features like very pale skin, white or light-colored hair, and light-colored eyes. Many different genes can cause albinism, influencing how the body produces and distributes melanin. However, a significant portion of albinism cases are linked to a defect on chromosome 11.
The Role of Chromosome 11 in Albinism
A key gene responsible for a common type of albinism, oculocutaneous albinism type 1 (OCA1), resides on chromosome 11. A defect in this gene leads to a deficiency in the enzyme tyrosinase. Tyrosinase is crucial for the production of melanin. Without sufficient tyrosinase, melanin production is significantly reduced or absent, resulting in the characteristic symptoms of albinism. The discovery of this gene on chromosome 11 was a major breakthrough in understanding the genetic basis of albinism, achieved in 1990.
Other Genes and Chromosomes Involved
It's important to note that while chromosome 11 plays a significant role, other genes located on different chromosomes also contribute to different forms of albinism. These variations lead to a range of symptoms and severity. The specific gene and chromosome involved determine the type of albinism and its manifestation.
