A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a Pakistani family

Invest Ophthalmol Vis Sci. 2002 Jul;43(7):2083-7.


Purpose: To map the disease locus in a four-generation, consanguineous Pakistani family affected by autosomal dominant congenital nuclear cataract (adNCat). All affected individuals had early onset of bilateral nuclear cataract.

Methods: Genomic DNA from family members was typed for alleles at more than 300 known polymorphic genetic markers by polymerase chain reaction. The lod scores were calculated by using two-point linkage analysis of the genotyping data.

Results: The maximum lod score, 4.05, was obtained for the marker D2S2333. Proximal and distal crossovers were observed with markers D2S286 and D2S1790, respectively. These crossovers define the critical disease locus to an interval of approximately 9 centimorgans (cM).

Conclusions: Linkage analysis identified a novel locus for adNCat on chromosome 2p12 in a Pakistani family. A genome database analysis of the target interval is being undertaken to identify candidate gene(s) for the disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Cataract / congenital
  • Cataract / genetics*
  • Cataract / pathology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics*
  • Consanguinity
  • DNA / analysis
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant*
  • Genetic Linkage
  • Genotype
  • Humans
  • Lens Nucleus, Crystalline / pathology*
  • Lod Score
  • Male
  • Pakistan
  • Pedigree
  • Polymerase Chain Reaction


  • DNA