Albinism is a genetic disorder that affects the production of melanin, the pigment that gives color to skin, hair, and eyes. While various forms of albinism exist, albinism can be caused by gene mutations on multiple chromosomes, including chromosomes 1, 2, 10, 11, 15, and X.
Here's a breakdown of the chromosome involvement in different types of albinism:
- Oculocutaneous Albinism (OCA): Most OCA types are caused by mutations in genes located on chromosome 15, specifically the OCA2 gene. This gene is responsible for producing the protein P, crucial for melanin synthesis. However, other forms of OCA involve mutations on chromosomes 1, 2, 10, and 11.
- X-linked Ocular Albinism (OA): This type of albinism is caused by mutations in the GPR143 gene located on the X chromosome. It primarily affects males, as they only have one X chromosome. Females with a mutated gene on one X chromosome usually do not have OA due to the presence of a normal copy on the other X chromosome.
The specific chromosome and gene involved can determine the type and severity of albinism. However, all forms of albinism involve a lack of melanin production, leading to varying degrees of depigmentation.
