title: Linkage study between congenital cataracts and five crystallin loci.
abstract: Congenital cataracts are a common cause of preventable blindness in children. We studied autosomal dominant congenital cataracts in 38 families and examined linkage between cataract loci and the crystallin genes on chromosomes 2, 11, 17, 21, and 22. We used clinical information to group families with phenotypically similar cataracts and analyzed the genetic data in these groups. Although LOD scores > 3.0 were not obtained, we found some support for linkage to four of the chromosomal regions examined, namely 2q33-35, 17q11.2-12, 21q22.3, and 22q11.2.
authors.affiliation: Department of Psychiatry, University of Toronto and Toronto Western Hospital Research Institute, Toronto, Ontario, Canada.
authors.forename: Cathy L
authors.initials: CL
authors.lastname: Barr
authors.forename: Alex V
authors.initials: AV
authors.lastname: Levin
authors.forename: Ronald
authors.initials: R
authors.lastname: Kovacs
authors.forename: Werner
authors.initials: W
authors.lastname: Muller
authors.forename: Magda
authors.initials: M
authors.lastname: Barsoum-Homsy
authors.forename: Dalila
authors.initials: D
authors.lastname: Zachary
authors.forename: Rakia A
authors.initials: RA
authors.lastname: Clark
authors.forename: Catherine
authors.initials: C
authors.lastname: Tsilfidis
mesh_terms: D000483:Alleles; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002874:Chromosome Mapping; D003459:Crystallins / Q000235:genetics*; D017931:DNA Primers; D006801:Humans; D008126:Lod Score; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D010641:Phenotype
chemical_list: D003459:Crystallins; D017931:DNA Primers