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

Wasim Ahmad, Sara Noci, Mohammad Faiyaz Ul Haque, Tiziana Sarno, Paolo Aridon, M. Maqbool Ahmad, Muhammad Amin-ud-din, Muhammad Arshad Rafiq, Saeed Ul Haque, Maurizio De Fusco, Andrea Ballabio, Brunella Franco, Giorgio Casari

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)62-65
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume100
Issue number1
DOIs
Publication statusPublished - Apr 15 2001

Keywords

  • Linkage mapping
  • Nonspecific mental retardation
  • X chromosome

ASJC Scopus subject areas

  • Genetics(clinical)

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