[Mapping of a pedigree with congenital nystagmus]

Yi Chuan. 2004 Jul;26(4):437-40.
[Article in Chinese]

Abstract

To investigate the relationship between X chromosome and obligatory gene of a pedigree with congenital nystagmus,we used the following markers: DXS1214, DXS1068, DXS993, DXS8035, DXS1047, DXS8033, DXS1192 and DXS1232. Genome screening and genotyping were conducted in this pedigree of congenital nystagmus, and linkage analysis by LINKAGE package was used to determine the potential location. The linkage was not found on the Xp (All LOD score <-1) but on Xq (the maximum LOD score=2). The related gene of this pedigree was located on the long arm of X chromosome. We demonstrate that Xq26-Xq28 is a common locus for CMN. It bring us closer to the identification of a gene responsible for X-linked CMN.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, X*
  • Female
  • Gene Frequency
  • Genetic Linkage*
  • Genetic Predisposition to Disease
  • Genome
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats*
  • Nystagmus, Congenital / genetics*
  • Pedigree