TY - JOUR
T1 - Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family
AU - Ahmad, Wasim
AU - Noci, Sara
AU - Haque, Mohammad Faiyaz Ul
AU - Sarno, Tiziana
AU - Aridon, Paolo
AU - Maqbool Ahmad, M.
AU - Amin-ud-din, Muhammad
AU - Rafiq, Muhammad Arshad
AU - Haque, Saeed Ul
AU - De Fusco, Maurizio
AU - Ballabio, Andrea
AU - Franco, Brunella
AU - Casari, Giorgio
PY - 2001/4/15
Y1 - 2001/4/15
N2 - 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.
AB - 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.
KW - Linkage mapping
KW - Nonspecific mental retardation
KW - X chromosome
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U2 - 10.1002/1096-8628(20010415)100:1<62::AID-AJMG1190>3.0.CO;2-H
DO - 10.1002/1096-8628(20010415)100:1<62::AID-AJMG1190>3.0.CO;2-H
M3 - Article
C2 - 11337751
AN - SCOPUS:0035871933
VL - 100
SP - 62
EP - 65
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -