title: A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a Pakistani family.
abstract: OBJECTIVE
  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.
authors.affiliation: Biomedical and Genetic Engineering Division, Dr. A. Q. Khan Research Laboratories, PO Box 2891, 24 Mauve Area, Islamabad, Pakistan. sqmehdi@isb.comsats.net.pk
authors.forename: Shagufta
authors.initials: S
authors.lastname: Khaliq
authors.forename: Abdul
authors.initials: A
authors.lastname: Hameed
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ismail
authors.forename: Khalid
authors.initials: K
authors.lastname: Anwar
authors.forename: S Qasim
authors.initials: SQ
authors.lastname: Mehdi
mesh_terms: D000328:Adult; D000368:Aged; D002386:Cataract / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003241:Consanguinity; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007907:Lens Nucleus, Crystalline / Q000473:pathology*; D008126:Lod Score; D008297:Male; D010154:Pakistan; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA