Nance-Horan syndrome: linkage analysis in a family from The Netherlands

Genomics. 1994 May 1;21(1):238-40. doi: 10.1006/geno.1994.1248.

Abstract

Linkage analysis was carried out in a Dutch family with Nance-Horan (NH) syndrome. Close linkage without recombination between NH and the Xp loci DXS207, DXS43, and DXS365 (zmax = 3.23) was observed. Multipoint linkage analysis and the analysis of recombinations in multiple informative meioses suggest the genetic order Xcen-DMD (exon 49)-DXS451-(NH, DXS207, DXS365, DXS43)-(STS, DXF30)-Xpter. These data refine the localization of the NH locus on the distal Xp.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Cataract / genetics*
  • Ear / abnormalities*
  • Female
  • Genes, Recessive
  • Haplotypes / genetics
  • Humans
  • Lod Score
  • Male
  • Meiosis
  • Microphthalmos / genetics*
  • Netherlands
  • Pedigree
  • Syndrome
  • Tooth Abnormalities / genetics*
  • X Chromosome*