Linkage study between congenital cataracts and five crystallin loci

Am J Med Genet A. 2003 Aug 15;121A(1):15-9. doi: 10.1002/ajmg.a.20157.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Cataract / congenital*
  • Cataract / genetics*
  • Chromosome Mapping*
  • Crystallins / genetics*
  • DNA Primers
  • Humans
  • Lod Score
  • Microsatellite Repeats / genetics
  • Pedigree
  • Phenotype

Substances

  • Crystallins
  • DNA Primers