title: [Study of novel mutation of OPTN gene in two primary open angle glaucoma families in northeast China].
abstract: OBJECTIVE
  To identify the mutation gene of two Chinese families with primary open angle glaucoma.
  
  
  METHODS
  It was a case control study. Clinical observation and pedigree analysis were undertaken in two families with primary open angle glaucoma. Venous blood were drawn from 6 affected and 6 unaffected subjects in family L, and from 4 affected and 4 unaffected subjects in family C. Genomic DNA was extracted. Linkage to OPTN gene locus was determined. Mutation of this gene was screened by PCR of OPTN gene exons and direct sequencing.
  
  
  RESULTS
  A missense mutation A1274G in exon 10 of OPTN gene was identified in affected members of family L. The corresponding amino acid change was Lys322Glu. This mutation was not found in unaffected family members of family L, all members of family C and 87 unrelated normal controls.
  
  
  CONCLUSIONS
  A novel mutation of OPTN gene with Lys322Glu change is responsible for the occurrence of primary open angle glaucoma in a Chinese family.
authors.affiliation: Department of Ophthalmology, Second Affiliated Hospital of Harbin Medical University, Harbin 150086, China. yuanhp@yahoo.com
authors.forename: Hui-Ping
authors.initials: HP
authors.lastname: Yuan
authors.forename: Zheng
authors.initials: Z
authors.lastname: Xiao
authors.forename: Na
authors.initials: N
authors.lastname: Xu
authors.forename: Bin-Bin
authors.initials: BB
authors.lastname: Yang
authors.forename: Qing-Feng
authors.initials: QF
authors.lastname: Meng
authors.forename: Yuan-Yuan
authors.initials: YY
authors.lastname: Li
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D018797:Cell Cycle Proteins; D002681:China / Q000453:epidemiology; D005260:Female; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D035582:Transcription Factor TFIIIA / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D026901:Membrane Transport Proteins; C409460:OPTN protein, human; D035582:Transcription Factor TFIIIA