A new locus for dominant "zonular pulverulent" cataract, on chromosome 13

Am J Hum Genet. 1997 Jun;60(6):1474-8. doi: 10.1086/515468.


Inherited cataract is a clinically and genetically heterogeneous disease that most often presents as a congenital autosomal dominant trait. Here we report the linkage of a new locus for dominant "zonular pulverulent" cataract (CZP) to chromosome 13. To map the CZP locus we performed molecular-genetic linkage analysis using microsatellite markers in a five-generation English pedigree. After exclusion of eight known loci and several candidate genes for autosomal dominant cataract, we obtained significantly positive LOD scores (Z) for markers D13S175 (maximum Z [Zmax] = 4.06; maximum recombination frequency [theta max] = 0) and D13S1236 (Zmax = 5.75, theta max = 0). Multipoint analysis gave Zmax = 6.62 (theta max = 0) at marker D13S175. Haplotype data indicated that CZP probably lies in the centromeric region of chromosome 13, provocatively close to the gene for lens connexin46.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cataract / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 13*
  • DNA / blood
  • England
  • Female
  • Genes, Dominant*
  • Genetic Markers
  • Haplotypes
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Polymerase Chain Reaction
  • Probability
  • Recombination, Genetic


  • Genetic Markers
  • DNA