title: [Screening of candidate genes in a family with autosomal dominant retinitis pigmentosa].
abstract: OBJECTIVE
  To determine the causative mutation in a 5 generation pedigree with autosomal dominant retinitis pigmentosa (ADRP).
  
  
  METHODS
  Genomic DNA from four patients and 4 normal persons in the same pedigree suffering ADRP were extracted, and subsequently eight exons of three ADRP candidate genes were screened for mutations by a combined polymerase chain reaction-single strand conformation polymorphism and DNA sequencing techniques.
  
  
  RESULTS
  A new point mutation in rhodopsin gene at codon 52 of exon 1 (TTC to TAC) that resulted in a substitution of Tyr to Phe was detected in the four affected family members, but not in the four control individuals from the same pedigree.
  
  
  CONCLUSIONS
  A causative mutation of rhodopsin gene was identified in a large Chinese pedigree with ADRP. The present study confirmed the molecular genetic heterogeneity of ADRP.
authors.affiliation: Department of Medical Genetics, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430030 P. R. China. yunteng68@hotmail.com
authors.forename: Yun
authors.initials: Y
authors.lastname: Teng
authors.forename: Hong
authors.initials: H
authors.lastname: Tian
authors.forename: Hui
authors.initials: H
authors.lastname: Wang
authors.forename: Xiaofeng
authors.initials: X
authors.lastname: Hu
authors.forename: Yan
authors.initials: Y
authors.lastname: Chen
authors.forename: Zhenrong
authors.initials: Z
authors.lastname: Yang
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
mesh_terms: D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
chemical_list: D004247:DNA; D012243:Rhodopsin