title: [Gene mapping in a Chinese family with autosomal dominant centralpuiverulent cataract].
abstract: OBJECTIVE
  Mapping the mutation gene for a Chinese family with autosomal dominant cataract.
  
  
  METHODS
  It was a retrospective study. Thirty-two individuals in this family, including fifteen patients, eight normal siblings and nine spouses, were investigated and 8 ml blood was collected from each member under informed consent. Genomic DNA of all 29 members was isolated by standard protocol. A genome wide scan was performed after PCR amplification for microsatellite makers on autosomal chromosomes. LOD score was calculated by Linkage 5. 1 and GeneHunter software.
  
  
  RESULTS
  Positive Lod score were obtained in 10 microsatellite makers (D20S186, D20S163, D20S915, D20S152, D20S98, D20S904, D20S875, D20S112, D20S1140, D20S432) on chromosome 20q, and the maximum LOD score with D20S904 was 6.02.
  
  
  CONCLUSIONS
  Haplotype construction and multipoint analysis mapped the mutation gene in this inherited cataract family to the chromosome 20p12. 1-20p11.23 region between D20S186 and D20S912, which is an approximately 5.47 centimorgan length. This is the second congenital cataract locus linked to chromosome 20q.
authors.affiliation: Tianjin Eye Hospital, Tianjin Medical University, Tianjin 300022, China.
authors.forename: Ning-dong
authors.initials: ND
authors.lastname: Li
authors.forename: Juan
authors.initials: J
authors.lastname: Bu
authors.forename: Song-tao
authors.initials: ST
authors.lastname: Yuan
authors.forename: Jian-jun
authors.initials: JJ
authors.lastname: Yang
authors.forename: Kan-xing
authors.initials: KX
authors.lastname: Zhao
mesh_terms: D044466:Asian People / Q000235:genetics; D002386:Cataract / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D005260:Female; D006239:Haplotypes; D006801:Humans; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D012189:Retrospective Studies