title: R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism.
abstract: We examined the tyrosinase gene of two Japanese patients with tyrosinase-negative oculocutaneous albinism by allele-specific amplification analysis on two known point mutations in Japanese, and the results indicated that they were compound heterozygouts, namely, one allele of the tyrosinase gene harbored one of two known mutations and another allele 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 mutation, codon 431CCA (Pro) to CTA (Leu). However, these same mutations have already been observed in a Guyanan and a Moroccan Jewish patient, and in an Indo-Pakistani patient, respectively.
authors.affiliation: Department of Dermatology, Akita University School of Medicine, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Matsunaga
authors.forename: M
authors.initials: M
authors.lastname: Dakeishi
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
authors.forename: Y
authors.initials: Y
authors.lastname: Tomita
mesh_terms: D016115:Albinism, Oculocutaneous / Q000201:enzymology* / Q000235:genetics*; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics*; D017354:Point Mutation
chemical_list: D017931:DNA Primers; D014442:Monophenol Monooxygenase