title: [Preliminary mapping of an autosomal dominant retinitis pigmentosa gene by linkage analysis].
abstract: OBJECTIVE
  To map the gene responsible for a three generations family with autosomal dominant retinitis pigmentosa (ADRP) and screen the mutation in candidate genes.
  
  
  METHODS
  For a 14-member family with 7 suspected patients, systematic and ophthalmic examinations were performed including visual acuity, ophthalmoscopy, perimetry and electrophysiologic test. After the genomic DNA was extracted, genome scanning was performed, and candidate genes were screened for potential mutations.
  
  
  RESULTS
  The maximal two-point LOD score was obtained at D1S252 with a value of 2.02 (θ=0.00), and multi-point LOD score reached its maximum 2.28 at D1S252. However, no mutations were detected in two candidate genes in this region, namely PRPF3 and SEMA4A by direct sequencing.
  
  
  CONCLUSIONS
  Significant evidence for linkage was found at the chromosome region of 1p21.1-q23.3. However, neither PRPF3 nor SEMA4A has harbored a mutation. There may exist an additional gene which is responsible for this disease.
authors.affiliation: Department of Clinical Laboratory, Tongji Medical College of Huazhong University of Science & Technology, Wuhan, Hubei, People's Republic of China.
authors.forename: Feng
authors.initials: F
authors.lastname: Ding
authors.forename: Xin
authors.initials: X
authors.lastname: Zhou
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yuan
authors.forename: Ming
authors.initials: M
authors.lastname: Yan
authors.forename: Fang
authors.initials: F
authors.lastname: Zheng
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002874:Chromosome Mapping; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D055815:Young Adult