Linked Life Data

9674912

Source:http://linkedlifedata.com/resource/pubmed/id/9674912

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1998-9-24
pubmed:databankReference
pubmed:abstractText
The gene that encodes the human alpha2 subunit of the inhibitory glycine receptor (GLRA2) is located on the X chromosome (Xp22.2) in a candidate region for a number of neurological disorders. Recently, an exclusion mapping strategy identified this region to be concordant in familial Rett syndrome (RTT) patients. Based on its established expression pattern and known function, GLRA2 was selected as a candidate gene for Rett syndrome. Major gene rearrangements were excluded based on Southern analysis using the GLRA2 cDNA as probe. To identify more subtle mutations, we determined the genomic structure for GLRA2, which consists of nine exons and a putative alternatively spliced exon 3. The exon-intron boundaries were sequenced in order to design primer sets for polymerase chain reaction (PCR) amplification of all exons and their immediately flanking intronic regions. PCR products amplified from genomic DNA isolated from 40 RTT patients were subsequently characterized by heteroduplex analysis, and no mutations were detected. Characterization of the intron-exon structure of GLRA2 will facilitate future mutational analysis of this gene for other neurological disorders mapping to human Xp22.2.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
30
pubmed:volume
78
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
176-8
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome.
pubmed:affiliation
Program in Cell and Molecular Biology, Baylor College of Medicine, Houston, Texas, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't