DIVERSE MUTATIONS OF THE P-GENE AMONG AFRICAN-AMERICANS WITH TYPE-II (TYROSINASE-POSITIVE) OCULOCUTANEOUS ALBINISM (OCA2)

Type II (tyrosinase-positive) oculocutaneous albinism (OCA2) is an aut osomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which we have shown res ults from mutations of the P gene in Caucasians, is the most prevalent type of oculocutaneous albinism in African and African - American pat ients with OCA. We have identified abnormalities of the P gene in seve n unrelated African - American patients with OCA2, including three lar ge deletions, two small in-frame deletions, and six different point mu tations. None of these appears to be predominant among African - Ameri can patients with OCA2.