title: A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.
abstract: BACKGROUND
  The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1), an autosomal recessive genetic disorder. OCA1 is the most common type of OCA in the Chinese population. Hence, the TYR gene was tested in this study. We also delineated the genetic analysis of OCA1 in a Chinese family.
  
  
  METHODS
  Genomic DNA was isolated from the blood leukocytes of a proband and his family. Mutational analysis at the TYR locus by DNA sequencing was used to screen five exons, including the intron/exon junctions. A pedigree chart was drawn and the fundus of the eyes of the proband was also examined.
  
  
  RESULTS
  A novel missense mutation p.I151S on exon 1, and homozygous TYR mutant alleles were identified in the proband. None of the mutants was identified among the 100 normal control subjects. Genetic analysis of the proband's wife showed normal alleles in the TYR gene. Thus, the fetus was predicated a carrier of OCA1 with a normal appearance.
  
  
  CONCLUSIONS
  This study provided new information about a novel mutation, p.I151S, in the TYR gene in a Chinese family with OCA1. Further investigation of the proband would be helpful to determine the effects of this mutation on TYR activity.
authors.affiliation: Department of Dermatology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
authors.forename: Yu-Ying
authors.initials: YY
authors.lastname: Lin
authors.forename: Ai-Hua
authors.initials: AH
authors.lastname: Wei
authors.forename: Zhi-Yong
authors.initials: ZY
authors.lastname: Zhou
authors.forename: Wei
authors.initials: W
authors.lastname: Zhu
authors.forename: Xin
authors.initials: X
authors.lastname: He
authors.forename: Shi
authors.initials: S
authors.lastname: Lian
mesh_terms: D000328:Adult; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D044466:Asian People; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree
chemical_list: D014442:Monophenol Monooxygenase