title: Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.
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.
authors.affiliation: Telethon Institute of Genetics and Medicine, Milan, Italy.
authors.forename: W
authors.initials: W
authors.lastname: Ahmad
authors.forename: S
authors.initials: S
authors.lastname: Noci
authors.forename: M
authors.initials: M
authors.lastname: Faiyaz ul Haque
authors.forename: T
authors.initials: T
authors.lastname: Sarno
authors.forename: P
authors.initials: P
authors.lastname: Aridon
authors.forename: M M
authors.initials: MM
authors.lastname: Ahmad
authors.forename: M
authors.initials: M
authors.lastname: Amin-Ud-Din
authors.forename: M A
authors.initials: MA
authors.lastname: Rafiq
authors.forename: S
authors.initials: S
authors.lastname: ul Haque
authors.forename: M
authors.initials: M
authors.lastname: De Fusco
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: B
authors.initials: B
authors.lastname: Franco
authors.forename: G
authors.initials: G
authors.lastname: Casari
mesh_terms: D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010154:Pakistan; D010375:Pedigree; D014960:X Chromosome / Q000235:genetics*
chemical_list: D004247:DNA