title: Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa.
abstract: OBJECTIVE
  This study was to analyze the spectrum and frequency of rhodopsin gene (RHO) mutations in Chinese patients with retinitis pigmentosa (RP).
  
  
  METHODS
  Patients were given physical examinations, and blood samples were collected for DNA extraction. The RHO mutations were screened with direct sequencing.
  
  
  RESULTS
  Eight heterozygous nucleotide changes were detected in eight of 300 probands with RP, including six novel mutations and two known mutations. p.R21C, p.C110S, p.G182V, p.C187G, c.409-426delGTGGTGGTGTGTAAGCCC, and p.P347L were found in six autosomal dominant families. p.T92I and p.Y178C were found in two isolated cases.
  
  
  CONCLUSIONS
  The results reveal the spectrum and frequency of RHO mutations in Chinese patients with different forms of RP and demonstrate that RHO mutations account for a high proportion of autosomal dominant RP (adRP) cases.
authors.affiliation: Department of Ophthalmology, Tianjin Medical University, Tianjin, China ; Department of Ophthalmology, Hebei Provincial Ophthalmic Hospital, Hebei, China ; Hebei Provincial Key Laboratory of Ophthalmology, Hebei, China ; Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: Guoxing
authors.initials: G
authors.lastname: Yang
authors.affiliation: Department of Ophthalmology, Hebei Provincial Ophthalmic Hospital, Hebei, China.
authors.forename: Shipeng
authors.initials: S
authors.lastname: Xie
authors.affiliation: Department of Ophthalmology, Hebei Provincial Ophthalmic Hospital, Hebei, China.
authors.forename: Na
authors.initials: N
authors.lastname: Feng
authors.affiliation: Department of Ophthalmology, Hebei Provincial Ophthalmic Hospital, Hebei, China.
authors.forename: Zhifeng
authors.initials: Z
authors.lastname: Yuan
authors.affiliation: Department of Ophthalmology, Hebei Provincial Ophthalmic Hospital, Hebei, China.
authors.forename: Minglian
authors.initials: M
authors.lastname: Zhang
authors.affiliation: Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: Jialiang
authors.initials: J
authors.lastname: Zhao
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D012243:Rhodopsin / Q000235:genetics*; D055815:Young Adult
chemical_list: D012243:Rhodopsin