Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24
Open Access
- 1 March 1996
- journal article
- research article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 5 (3) , 411-414
- https://doi.org/10.1093/hmg/5.3.411
Abstract
More than 100 X-linked mental retardation syndromes have been described. We report the localization of the disease gene, MRX23, in one family to Xq23–24. Affected family members present with non-specific X-linked mental retardation with verbal disability (BDOAS 10, 1–100). MRX23 is tightly linked to the markers DXS1220 (Z = 3.76 at θ = 0.1) and DXS424 (Z = 3.9 at θ = 0.06). Multipoint linkage analysis, taking five loci (DXS1072−0.07-DXS1220−0.014-MRX23−0.01-DXS 424−0.08-DXS1001) at a time, gives a maximum LOD score of 6.7 between these two markers. The next most likely location, between DXS424 and DXS1001 is 120-fold less likely. Haplotype analysis also indicates the most likely location for the disease gene is between DXS1220 and DXS424.Keywords
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