title: Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.
abstract: OBJECTIVE
  To identify the disease locus for autosomal recessive congenital cataracts in a consanguineous Pakistani family.
  
  
  METHODS
  All affected individuals underwent a detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was completed with fluorescently-labeled microsatellite markers on genomic DNA from affected and unaffected family members. Logarithms of odds (LOD) scores were calculated under a fully penetrant autosomal recessive model of inheritance.
  
  
  RESULTS
  Ophthalmic examination suggested that affected individuals have bilateral cataracts. Linkage analysis localized the critical interval to chromosome 8p with LOD scores of 3.19, and 3.08 at θ=0, obtained with markers D8S549 and D8S550, respectively. Haplotype analyses refined the critical interval to 37.92 cM (16.28 Mb) region, flanked by markers, D8S277 proximally and D8S1734 distally.
  
  
  CONCLUSIONS
  Here, we report a new locus for autosomal recessive congenital cataract mapped to chromosome 8p in a consanguineous Pakistani family.
authors.affiliation: National Centre of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.
authors.forename: Namerah
authors.initials: N
authors.lastname: Sabir
authors.forename: S Amer
authors.initials: SA
authors.lastname: Riazuddin
authors.forename: Haiba
authors.initials: H
authors.lastname: Kaul
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: D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002874:Chromosome Mapping / Q000379:methods*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005190:Family; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D056426:Genetic Loci / Q000235:genetics*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree
chemical_list: D005819:Genetic Markers