title: [Investigation on the mutation of MYOC gene in two family pedigrees with primary open-angle glaucoma in Shanxi].
abstract: OBJECTIVE
  To investigate the mutations of MYOC gene in two family pedigrees with primary open-angle glaucoma(POAG) in Shanxi.
  
  
  METHODS
  Two POAG pedigrees in Shanxi were recruited and underwent complete ophthalmic examination. Genomic DNA was extracted from the peripheral blood of patients, of relatives and of normal controls. The coding sequence of MYOC gene was amplified by PCR with 7 pairs of primers. The PCR products were sequenced to screen for mutation sites.
  
  
  RESULTS
  In Pedigree 1, no MYOC mutations were observed. One missense MYOC mutation, Ser341Pro, was identified in Pedigree 2, but there was no mutation presented in unaffected relatives and normal controls.
  
  
  CONCLUSIONS
  MYOC Ser341Pro mutation may be account for the POAG in the Pedigree 2.
authors.affiliation: Department of Ophthalmology, The First Affiliated Hospital, Medical School, Xi'an Jiaotong University Xi'an 710061, China. eyeqinli@163.com
authors.forename: Li
authors.initials: L
authors.lastname: Qin
authors.forename: Jingming
authors.initials: J
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D002681:China / Q000453:epidemiology; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin