title: Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q.
abstract: OBJECTIVE
  To localize the disease interval for autosomal recessive congenital cataracts in a consanguineous Pakistani family.
  
  
  METHODS
  All affected individuals underwent detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed with fluorescently-labeled microsatellite markers on genomic DNA from affected and unaffected family members and logarithm of odds (LOD) scores were calculated.
  
  
  RESULTS
  Clinical records and ophthalmological examinations suggested that affected individuals have bilateral congenital cataracts. Genome-wide linkage analysis localized the critical interval to chromosome 3q with a maximum LOD score of 3.87 at θ=0; with marker D3S3609. Haplotype analyses refined the critical interval to a 23.39 cM (18.01 Mb) interval on chromosome 3q, flanked by D3S1614 proximally and D3S1262, distally.
  
  
  CONCLUSIONS
  Here, we report a new locus for autosomal recessive congenital cataract localized to chromosome 3q in a consanguineous Pakistani family.
authors.affiliation: National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
authors.forename: Namerah
authors.initials: N
authors.lastname: Sabir
authors.forename: S Amer
authors.initials: SA
authors.lastname: Riazuddin
authors.forename: Tariq
authors.initials: T
authors.lastname: Butt
authors.forename: Farheena
authors.initials: F
authors.lastname: Iqbal
authors.forename: Idrees A
authors.initials: IA
authors.lastname: Nasir
authors.forename: Ahmad U
authors.initials: AU
authors.lastname: Zafar
authors.forename: Zaheeruddin A
authors.initials: ZA
authors.lastname: Qazi
authors.forename: Nadeem H
authors.initials: NH
authors.lastname: Butt
authors.forename: Shaheen N
authors.initials: SN
authors.lastname: Khan
authors.forename: Tayyab
authors.initials: T
authors.lastname: Husnain
authors.forename: J Fielding
authors.initials: JF
authors.lastname: Hejtmancik
authors.forename: Sheikh
authors.initials: S
authors.lastname: Riazuddin
mesh_terms: D000293:Adolescent; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping / Q000379:methods*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005190:Family; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D056426:Genetic Loci / Q000235:genetics*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree
chemical_list: D005819:Genetic Markers