Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel

摘要: Abstract We have analyzed the tyrosinase (TYR) gene in 38 unrelated patients with oculocutaneous albinism (OCA), derived from several different ethnic groups of diverse population Israel. We detected TYR mutations 23 34 apparent type I (i.e., tyrosinase-deficient) OCA and none other clinical forms albinism. Among Moroccan Jews IA tyrosinase-negative) OCA, we a highly predominant mutant allele containing missense substitution, Gly47Asp (G47D). This mutation occurs on same haplotype as Canary Islands Puerto Rico, suggesting that G47D these ethnically distinct populations may stem common origin.