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.
| Original language | English |
|---|---|
| Pages (from-to) | 62-65 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics |
| Volume | 100 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Apr 15 2001 |
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Keywords
- Linkage mapping
- Nonspecific mental retardation
- X chromosome
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family. / Ahmad, Wasim; Noci, Sara; Haque, Mohammad Faiyaz Ul; Sarno, Tiziana; Aridon, Paolo; Maqbool Ahmad, M.; Amin-ud-din, Muhammad; Rafiq, Muhammad Arshad; Haque, Saeed Ul; De Fusco, Maurizio; Ballabio, Andrea; Franco, Brunella; Casari, Giorgio.
In: American Journal of Medical Genetics, Vol. 100, No. 1, 15.04.2001, p. 62-65.Research output: Contribution to journal › Article
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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
UR - http://www.scopus.com/inward/record.url?scp=0035871933&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035871933&partnerID=8YFLogxK
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 -