A novel P gene mutation in a Chinese family with oculocutaneous albinism

Objective To investigate gene mutations of a consanguineous family with two oculocutaneous albinism(OCA)patients.Methods Genomic DNA was prepared from peripheral leukocytes.All of the exons and flanking introns of P gene and TYR gene were PCR-direct-sequenced.HhaⅠ restriction fragment length polymorphism in codon 787 of the P gene was studied in the family and 102 unrelated normal Chinese individuals.Results Although no mutations were found in TYR gene,a missense mutation A787T was found in P gene.Two patients of the family were both homozygous for A787T.Their parents and brother were heterozygous for the mutation.The mutation was not observed among 102 normally pigmented subjects.Conclusion The A787T mutation is not a common polymorphism among normal Chinese and it seems most likely to be a pathological OCA2 mutation.This is the first report on the study of gene diagnosis in Chinese OCA2 patients.