All of the following are true regarding albinism except: March 2009
Ans. B: Normal production of melanin Oculocutaneous albinism is inherited as an autosomal recessive trait. Ocular albinism results from mutation in a gene on the X chromosome, which maps to band Xp22.3-22.2 and is inherited as an X-linked recessive trait. Two main variants: Tyrosinase positive are usually less severe whereas tyrosinase negative are more severe Molecular defect is absent/sparse production of melanin. Pateint presents with total absence of melanin in skin, hair and eyes. They are prone to develop squamous cell carcinoma of skin induced by ultraviolet rays, which develops on photo-exposed pas due to lack of protective melanin.
Autosomal recessive condition
Normal production of melanin
Tyrosinase positive are usually less severe
Prone to develop squamous cell carcinoma of skin