title: Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
abstract: OBJECTIVE
  Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented eyes (in patients with ocular albinism) or hair, skin, and eyes (in individuals with oculocutaneous albinism). It is associated with decreased visual acuity, nystagmus, strabismus, and photophobia. The tyrosinase gene is known to be involved in both oculocutaneous albinism and autosomal recessive ocular albinism. In this study, we aimed to screen the mutations in the TYR gene in the nonsyndromic OCA and autosomal recessive ocular albinism patients from Iran.
  
  
  METHODS
  The tyrosinase gene was examined in 23 unrelated patients with autosomal recessive ocular albinism or nonsyndromic OCA using DNA sequencing and bioinformatics analysis.
  
  
  RESULTS
  TYR gene mutations were identiﬁed in 14 (app. 60%) albinism patients.
  
  
  CONCLUSIONS
  We found 10 mutations, 3 of which were novel. No mutation was found in our ocular albinism patients, but one of them was heterozygous for the p.R402Q polymorphism.
authors.affiliation: Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
authors.forename: Faravareh
authors.initials: F
authors.lastname: Khordadpoor-Deilamani
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran ; Tehran Medical Genetics Laboratory, Tehran, Iran.
authors.forename: Mohammad Taghi
authors.initials: MT
authors.lastname: Akbari
authors.affiliation: Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran ; Tehran Medical Genetics Laboratory, Tehran, Iran.
authors.forename: Morteza
authors.initials: M
authors.lastname: Karimipoor
authors.affiliation: Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
authors.forename: Gholamreza
authors.initials: G
authors.lastname: Javadi
mesh_terms: D016117:Albinism, Ocular / Q000201:enzymology* / Q000235:genetics*; D016115:Albinism, Oculocutaneous / Q000145:classification / Q000201:enzymology* / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
chemical_list: D014442:Monophenol Monooxygenase