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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
1997-1-13
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pubmed:abstractText |
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 theta = 0.1) and DXS424 (Z = 3.9 at theta = 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.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0964-6906
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
411-4
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:8852668-Chromosome Mapping,
pubmed-meshheading:8852668-Female,
pubmed-meshheading:8852668-Genetic Linkage,
pubmed-meshheading:8852668-Genetic Markers,
pubmed-meshheading:8852668-Humans,
pubmed-meshheading:8852668-Intellectual Disability,
pubmed-meshheading:8852668-Male,
pubmed-meshheading:8852668-Pedigree,
pubmed-meshheading:8852668-Polymorphism, Genetic,
pubmed-meshheading:8852668-X Chromosome
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pubmed:year |
1996
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pubmed:articleTitle |
Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24.
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pubmed:affiliation |
Waisman Center for Mental Retardation and Human Development, University of Wisconsin, Madison 53706, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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