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 journalArticle

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

Fingerprint

Chromosome Mapping
Information Storage and Retrieval
X Chromosome
Cognition
Genetic Recombination
Atkin syndrome

Keywords

  • Linkage mapping
  • Nonspecific mental retardation
  • X chromosome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family. / Ahmad, Wasim; Noci, Sara; Haque, Mohammad Faiyaz Ul; Sarno, Tiziana; Aridon, Paolo; Maqbool Ahmad, M.; Amin-ud-din, Muhammad; Rafiq, Muhammad Arshad; Haque, Saeed Ul; De Fusco, Maurizio; Ballabio, Andrea; Franco, Brunella; Casari, Giorgio.

In: American Journal of Medical Genetics, Vol. 100, No. 1, 15.04.2001, p. 62-65.

Research output: Contribution to journalArticle

Ahmad, W, Noci, S, Haque, MFU, Sarno, T, Aridon, P, Maqbool Ahmad, M, Amin-ud-din, M, Rafiq, MA, Haque, SU, De Fusco, M, Ballabio, A, Franco, B & Casari, G 2001, 'Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family', American Journal of Medical Genetics, vol. 100, no. 1, pp. 62-65. https://doi.org/10.1002/1096-8628(20010415)100:1<62::AID-AJMG1190>3.0.CO;2-H
Ahmad, Wasim ; Noci, Sara ; Haque, Mohammad Faiyaz Ul ; Sarno, Tiziana ; Aridon, Paolo ; Maqbool Ahmad, M. ; Amin-ud-din, Muhammad ; Rafiq, Muhammad Arshad ; Haque, Saeed Ul ; De Fusco, Maurizio ; Ballabio, Andrea ; Franco, Brunella ; Casari, Giorgio. / Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family. In: American Journal of Medical Genetics. 2001 ; Vol. 100, No. 1. pp. 62-65.
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