A locus for nonspecific X-linked mental retardation mapped to a 22.3 cM region of Xp11.3-q22.3

Am J Med Genet A. 2004 Sep 1;129A(3):286-9. doi: 10.1002/ajmg.a.30121.

Abstract

By using several microsatellite markers scattered along the X chromosome, we studied a Chinese family with nonspecific X-linked mental retardation (MRX84) to search for a region including the MRX84 locus that was linked to the markers. Two-point linkage analysis demonstrated linkage between the disorder and several markers located at Xq22.2, with maximum LOD score Z(max) = 2.41 at recombination fraction theta = 0 for DXS1191 and DXS1230, respectively. Recombination events were observed with flanking markers DXS8080 and DXS456, located at Xp11.3 and Xq22.3, respectively, and a region of approximately 22.3 cM was defined. Accordingly, markers distal to Xp11.3 and Xq22.3 segregated independently of the disease. The localized region observed in this Chinese family overlaps with 29 other MRX loci previously reported in Xp11.3-q22.3. These results should contribute to the identification of the disease gene for the MRX84 disorder.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • China
  • Chromosome Mapping*
  • Chromosomes, Human, X / genetics*
  • Cytogenetic Analysis
  • DNA Primers
  • Dosage Compensation, Genetic
  • Genetic Linkage*
  • Humans
  • Lod Score
  • Male
  • Mental Retardation, X-Linked / genetics*
  • Microsatellite Repeats / genetics

Substances

  • DNA Primers