title: [Mutation analysis of pathogenic genes in a Henan family affected with congenital stationary night blindness].
abstract: OBJECTIVE
  To detect genetic mutations associated with autosomal dominant congenital stationary night blindness (ADCSNB) in a family from Henan province.
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood samples of 14 family members. Based on 3 genes reported previously, PCR primers were designed and corresponding exons containing the mutation sites were amplified with PCR. PCR products were purified and directly sequenced.
  
  
  RESULTS
  A c.281C>T heterozygous missense mutation was detected in RHO gene in all of the patients. This mutation can cause a change of the protein structure (p.Thr94Ile). The same mutation was not detected in normal individuals from the family and 50 normal controls.
  
  
  CONCLUSIONS
  A c.281C>T mutation in RHO gene is responsible for the onset of ADCSNB in this Chinese family and results in symptoms of night blindness.
authors.affiliation: Henan Research Institute of Population and Family Planning, Zhengzhou, Henan, People's Republic of China. rainbowwfy@yahoo.com.cn
authors.forename: Feng-yu
authors.initials: FY
authors.lastname: Wang
authors.forename: Yan-li
authors.initials: YL
authors.lastname: Wang
authors.forename: Yang
authors.initials: Y
authors.lastname: Yang
authors.forename: Cong-min
authors.initials: CM
authors.lastname: Li
authors.forename: Tao
authors.initials: T
authors.lastname: Zhang
authors.forename: Ming-xiu
authors.initials: MX
authors.lastname: Chang
authors.forename: Yun-liang
authors.initials: YL
authors.lastname: Zhu
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D002681:China; D004252:DNA Mutational Analysis / Q000379:methods; D015785:Eye Diseases, Hereditary; D005260:Female; D040181:Genetic Diseases, X-Linked; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009216:Myopia / Q000235:genetics*; D009755:Night Blindness / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D016415:Sequence Alignment / Q000379:methods
chemical_list: D012243:Rhodopsin