title: [A novel P gene mutation in a Chinese family with oculocutaneous albinism].
abstract: 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. Hha I 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Medical Genetics, Zhongshan Medical College, Sun-Yat-sen University, Guangzhou, Guangdong 510089, P. R. China.
authors.forename: Hong-lei
authors.initials: HL
authors.lastname: Duan
authors.forename: Hong-yi
authors.initials: HY
authors.lastname: Li
authors.forename: Wei-qing
authors.initials: WQ
authors.lastname: Wu
authors.forename: Hui
authors.initials: H
authors.lastname: Zheng
authors.forename: Zheng
authors.initials: Z
authors.lastname: Chen
mesh_terms: D000328:Adult; D016115:Albinism, Oculocutaneous / Q000208:ethnology / Q000235:genetics*; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D003062:Codon; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D007438:Introns; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics; D020125:Mutation, Missense; D010375:Pedigree; D012689:Sequence Homology, Nucleic Acid
chemical_list: D003062:Codon; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D014442:Monophenol Monooxygenase