Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family

Am J Med Genet. 2001 Apr 15;100(1):62-5. doi: 10.1002/1096-8628(20010415)100:1<62::aid-ajmg1190>3.0.co;2-h.

Abstract

Nonspecific X-linked mental retardation is a nonprogressive, genetically heterogeneous condition that affects cognitive function in the absence of other distinctive clinical manifestations. We report here linkage data on a large Pakistani family affected by a form of X-linked nonspecific mental retardation. X chromosome genotyping of family members and linkage analysis allowed the identification of a new disease locus, MRX53. The defined critical region spans approximately 15 cM between DXS1210 and DXS1047 in Xq22.2-26. A LOD score value of 3.34 at no recombination was obtained with markers DXS1072 and DXS8081.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • DNA / genetics
  • Family Health
  • Female
  • Genetic Linkage
  • Genotype
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Pakistan
  • Pedigree
  • X Chromosome / genetics*

Substances

  • DNA