title: [Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients].
abstract: OBJECTIVE
  To explore the patients' genotypes and the mutation spectrum of Tyrosinase (TYR) gene and the effects on protein structure and function in oculocutaneous albinism type 1 (OCA1).
  
  
  METHODS
  The polymerase chain reaction (PCR) and sequencing techniques were applied to amplify and analyze the regions of exon, exonintron and promoter of TYR gene of 15 OCA1 probands and some of their parents. The protein structure and function were forecasted and analyzed by bioinformatics software.
  
  
  RESULTS
  Sequencing result showed 11 kinds of mutations, including 5 missense mutations (W400L, R299H, E294K, R77Q and K142M), 3 nonsense mutations (R116X, R278X and G295X), 2 insertion mutation (929insC and 232insGGG) and 1 splice site mutation (IVS1-3C > G). The nosogenesis was related to the change of protein structure and function in four pathological mutations.
  
  
  CONCLUSIONS
  It seemes that W400L is the frequent mutations, which accounted for about 30.0% in Chinese mainland OCA1 alleles. It is doable to make some reasonable interpretation about TYR gene nosogenesis by bioinformatics method.
authors.affiliation: Department of Physiology, Medical College of Jinan University, Guangzhou 510632, China. tlihzh@jnu.edu.cn
authors.forename: Hui
authors.initials: H
authors.lastname: Zheng
authors.forename: Zhi-gang
authors.initials: ZG
authors.lastname: Huang
authors.forename: Ren-qing
authors.initials: RQ
authors.lastname: Wen
authors.forename: Hong-yi
authors.initials: HY
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D055815:Young Adult
chemical_list: D014442:Monophenol Monooxygenase