R278TER AND P431L MUTATIONS OF THE TYROSINASE GENE EXIST IN JAPANESE PATIENTS WITH TYROSINASE-NEGATIVE OCULOCUTANEOUS ALBINISM

We examined the tyrosinase gene of two Japanese patients with tyrosina se-negative oculocutaneous albinism by allele-specific amplification a nalysis on two known point mutations in Japanese, and the results indi cated that they were compound heterozygouts, namely, one allele of the tyrosinase gene harbored one of two known mutations and another allel e probably had a mutation unknown in Japanese patients. Therefore, we have cloned and sequenced the tyrosinase gene of the two patients and identified two different point mutations. One is a nonsense mutation, codon 278CGA (Arg) to TGA (TER), and the other is a substitution mutat ion, codon 431CCA (Pro) to CTA (Leu). However, these same mutations ha ve already been observed in a Guyanan and a Moroccan Jewish patient, a nd in an Indo-Pakistani patient, respectively.