Albinism is an inherited genetic condition in which a person has an absent or reduced amount of melanin, the pigment that gives skin, hair and eyes their color. People with albinism often have very light skin, hair, and eyes. Albinism is caused by a mutation in one or more genes that are responsible for the production of melanin. The most common form of albinism is called oculocutaneous albinism (OCA). People with OCA type 1 have a genotype of aa, meaning that they are homozygous for the gene mutation that causes albinism.
What is the aa genotype?
The aa genotype is a type of genetic makeup in which a person is homozygous for a particular gene mutation. In other words, the person has two copies of the same gene variant. This is different from the more commonly seen type of genetic makeup, which is heterozygous, meaning that the person has two different variants of the same gene.
What is the gene mutation that causes albinism?
The gene mutation that causes albinism is located on the TYR gene. The TYR gene produces an enzyme called tyrosinase, which is responsible for the production of melanin. Mutations in the TYR gene can lead to decreased or absent production of tyrosinase, resulting in a lack of melanin production and, consequently, albinism.
What are the symptoms of albinism?
People with albinism often have very light skin, hair, and eyes. They may also have vision problems, including sensitivity to bright light, nystagmus (involuntary shaking of the eyes), and reduced acuity. Albinism can also cause other physical abnormalities, such as hearing and heart problems.