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https://hdl.handle.net/2440/11383
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Type: | Journal article |
Title: | Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation |
Author: | Gedeon, A. Glass, I. Connor, J. Mulley, J. |
Citation: | American Journal of Medical Genetics Part A, 1996; 64(1):121-124 |
Publisher: | WILEY-LISS |
Issue Date: | 1996 |
ISSN: | 0148-7299 1096-8628 |
Abstract: | A large family with non-specific X-linked mental retardation (MRX) was first described in 1991 [Glass et al., 1991], with a suggestion of linkage to Xq26-27. The maximum lod score was 1.60 (theta = 0.10) with the F9 locus. The localisation of this MRX gene has now been established by linkage to microsatellite markers. Peak pairwise lod scores of 4.02 and 4.01 (theta = 0.00) were attained at the DXS1114 and DXS994 loci respectively. This MRX gene is now designated MRX27 and is localised to Xq24-26 by recombination events detected by DXS424 and DXS102. This regional localisation spans 26.2 cM on the genetic background map and defines another distinct MRX interval by linkage to a specific region of the X chromosome. |
Keywords: | X Chromosome Humans Chromosome Mapping Pedigree Female Male Genetic Linkage Intellectual Disability Genetic Carrier Screening |
DOI: | 10.1002/(SICI)1096-8628(19960712)64:1<121::AID-AJMG20>3.0.CO;2-O |
Published version: | http://dx.doi.org/10.1002/(sici)1096-8628(19960712)64:1%3C121::aid-ajmg20%3E3.0.co;2-o |
Appears in Collections: | Aurora harvest 7 Genetics publications |
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