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Linkage mapping of a nonspecific form of X‐linked mental retardation (MRX53) in a large Pakistani family
Authors: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
Affiliation:1. Telethon Institute of Genetics and Medicine, Milan, Italy;2. Department of Biological Sciences, Quaid‐i‐Azam University, Islamabad, Pakistan
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. © 2001 Wiley‐Liss, Inc.
Keywords:Nonspecific mental retardation  X chromosome  linkage mapping
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