title: Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.
abstract: OBJECTIVE
  To investigate the significance of carbonic anhydrase IV gene mutations in sporadic retinitis pigmentosa (RP) among the Chinese population.
  
  
  METHODS
  A total of 116 patients with simplex RP and adRP of Chinese ethnicity were screened for mutations in the eight coding exons of the CA4 gene by sequencing. Immunostaining and Real-Time PCR were used to measure the cellular localization and expression level of CA4 variations.
  
  
  RESULTS
  Ten sequence alterations were identified, including a novel variant within exon 1 of CA4 (A12T) in a patient with RP. No notable difference was found between wild-type protein and A12T mutant protein in the distribution pattern. However, there was a decrease in level of mRNA expression of 3' UTR mutant to wild-type.
  
  
  CONCLUSIONS
  The results suggest that the expression level of CA IV may be important to maintain retina function in RP.
authors.affiliation: The 2nd Xiangya Hospital, Department of Ophthalmology, Central South University, Changsha, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Tian
authors.forename: Luosheng
authors.initials: L
authors.lastname: Tang
authors.forename: Juanlian
authors.initials: J
authors.lastname: Cui
authors.forename: Xiaohua
authors.initials: X
authors.lastname: Zhu
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D030741:Carbonic Anhydrase IV / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005091:Exons; D005260:Female; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012333:RNA, Messenger / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014792:Visual Acuity; D058609:Visual Field Tests; D055815:Young Adult
chemical_list: D012333:RNA, Messenger; D030741:Carbonic Anhydrase IV