title: Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma.
abstract: OBJECTIVE
  To analyze two candidate genes, trabecular meshwork inducible glucocorticoid response (MYOC/TIGR) and human dioxin-inducible cytochrome P450 (CYP1B1), in a Chinese pedigree of primary open-angle glaucoma.
  
  
  METHODS
  In a three-generation family containing 14 members, four of them were patients with primary open-angle glaucoma, one was a glaucoma suspect, and the rest were asymptomatic. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database.
  
  
  RESULTS
  Elevated intraocular pressure and impaired visual field were found in all patients. One MYOC heterozygous mutation G367R, in exon 3 was identified in four patients and the suspect, but not in the rest of the family members. Meanwhile, four single nucleotide polymorphisms in MYOC and CYP1B1 genes were found.
  
  
  CONCLUSIONS
  Although the G367R mutation of MYOC, which causes primary open-angle glaucoma in the form of autosomal dominant inheritance, has been reported in some other ethnicities, it was found in Chinese pedigree for the first time.
authors.affiliation: Ophthalmic Laboratories and Department of Ophthalmology, West China Hospital, Sichuan University, PR China.
authors.forename: Jun
authors.initials: J
authors.lastname: Chen
authors.forename: Su-ping
authors.initials: SP
authors.lastname: Cai
authors.forename: Wenhan
authors.initials: W
authors.lastname: Yu
authors.forename: Naihong
authors.initials: N
authors.lastname: Yan
authors.forename: Li
authors.initials: L
authors.lastname: Tang
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Chen
authors.forename: Xuyang
authors.initials: X
authors.lastname: Liu
mesh_terms: D000328:Adult; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins / Q000235:genetics*; D030541:Databases, Genetic; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D006023:Glycoproteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D014794:Visual Fields; D000099179:Myocilin
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin; C585496:CYP1B1 protein, human