What is the genotype of an individual with albinism?

The genotype of an individual with albinism depends on the specific type of albinism. Albinism is a genetic condition that results in the absence or reduction of the pigment melanin in the skin, hair, and eyes. There are several types of albinism, each caused by mutations in different genes. Some of the most common types of albinism include:

1. Oculocutaneous albinism (OCA): OCA is the most common type of albinism and is characterized by reduced pigmentation in the skin, hair, and eyes. OCA is caused by mutations in several different genes, including the TYR, OCA2, TYRP1, SLC45A2, and SLC24A5 genes. Individuals with OCA typically have white or very light-colored skin, white or light-colored hair, and blue or light-colored eyes.

2. Tyrosinase-positive albinism (TPA): TPA is a type of OCA that is characterized by the presence of some tyrosinase enzyme activity. Tyrosinase is an enzyme involved in the production of melanin. Individuals with TPA have slightly more pigment than individuals with other types of OCA and may have light brown or reddish hair and brown or hazel eyes.

3. Tyrosinase-negative albinism (TNA): TNA is a type of OCA that is characterized by the complete absence of tyrosinase enzyme activity. Individuals with TNA have no melanin production and have white skin, hair, and eyes.

The genotype of an individual with albinism will depend on the specific mutations in the genes that cause their type of albinism. In most cases, albinism is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated in order for the condition to be expressed.