title: A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.
abstract: BACKGROUND
  Fourteen loci have been associated with autosomal dominant cataract, but only one with the recessive form of the disease.
  
  
  OBJECTIVE
  To find the chromosomal location of a gene causing autosomal recessive cataract in three inbred Arab families.
  
  
  METHODS
  A single nucleotide polymorphism-based genome-wide search, with the Effvmetrix GeneChip HuSNP genotyping array, was performed on a pooled DNA sample from six affected family members in a search for regions showing homozygosity. Using conventional microsatellite markers, regions of homozygosity were further analyzed in all the families.
  
  
  RESULTS
  A region on chromosome 3p spanning 43 megabases showed homozygosity with 13 consecutive SNPs. Three microsatellite markers from this region yielded lod scores > 3.00. A maximal two-point lod of 4.83 was obtained with the marker D3S1298 at theta = 0.004. Haplotype analysis placed the disease gene in a 20 Mb interval between D3S1768 and D3S2409.
  
  
  CONCLUSIONS
  A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.
authors.affiliation: Department of Ophthalmology, Sapir Medical Center, Kfar Saba, Israel. epras@post.tau.ac.il
authors.forename: E
authors.initials: E
authors.lastname: Pras
authors.forename: E
authors.initials: E
authors.lastname: Pras
authors.forename: T
authors.initials: T
authors.lastname: Bakhan
authors.forename: E
authors.initials: E
authors.lastname: Levy-Nissenbaum
authors.forename: H
authors.initials: H
authors.lastname: Lahat
authors.forename: E I
authors.initials: EI
authors.lastname: Assia
authors.forename: H J
authors.initials: HJ
authors.lastname: Garzozi
authors.forename: D L
authors.initials: DL
authors.lastname: Kastner
authors.forename: B
authors.initials: B
authors.lastname: Goldman
authors.forename: M
authors.initials: M
authors.lastname: Frydman
mesh_terms: D018912:Arabs / Q000235:genetics; D002386:Cataract / Q000235:genetics*; D002874:Chromosome Mapping / Q000379:methods*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D020641:Polymorphism, Single Nucleotide