1. Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.
- Author
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Ahmad W, Noci S, Faiyaz ul Haque M, Sarno T, Aridon P, Ahmad MM, Amin-Ud-Din M, Rafiq MA, ul Haque S, De Fusco M, Ballabio A, Franco B, and Casari G
- Subjects
- Chromosome Mapping, DNA genetics, Family Health, Female, Genetic Linkage, Genotype, Humans, Intellectual Disability pathology, Lod Score, Male, Microsatellite Repeats, Pakistan, Pedigree, Intellectual Disability genetics, X Chromosome genetics
- 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., (Copyright 2001 Wiley-Liss, Inc.)
- Published
- 2001
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