Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.
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.
Ahmad
W
W
Telethon Institute of Genetics and Medicine, Milan, Italy.
Noci
S
S
Faiyaz ul Haque
M
M
Sarno
T
T
Aridon
P
P
Ahmad
M M
MM
Amin-Ud-Din
M
M
Rafiq
M A
MA
ul Haque
S
S
De Fusco
M
M
Ballabio
A
A
Franco
B
B
Casari
G
G
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*
D004247:DNA