Linked Life Data

14582146

Source:http://linkedlifedata.com/resource/pubmed/id/14582146

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2003-10-28
pubmed:abstractText
Hereditary factors play a major role in the genetically complex etiology of juvenile myoclonic epilepsy (JME). Linkage studies in families of JME probands suggest a susceptibility locus (EJM1) for idiopathic generalized epilepsy (IGE) in the chromosomal region 6p21.3 near the HLA region. The gene encoding the metabotropic glutamate receptor type 4 (GRM4) has been localized within the EJM1-region and represents a high-ranking candidate gene. Therefore, we have sequenced the coding regions and regulatory GRM4 sequences in 20 IGE probands who were derived from families of JME probands providing positive linkage evidence to the HLA-DQ locus. Our mutation analysis detected three synonymous exonic single nucleotide polymorphisms (SNP; exon-7: c.1455T > C, exon-8: c.2002A > G, exon-10: c.2733C > T), one SNP in the 3'-untranslated region (c.2890A > G), and two intronic SNPs (intron-3: IVS3 + 2732A > G, intron-7: IVS7 + 39C > T). None of the identified SNPs was likely to affect receptor function or gene expression. The population-based association study did not show significant differences in the allele and genotype frequencies of the common c.1455T > C SNP between 144 German JME probands and 144 healthy population controls (P > 0.84). Likewise, the family-based transmission disequilibrium test did not indicate a preferential transmission of exon-7 SNP alleles in 31 informative parent-child transmissions (P = 0.86). Our results provide no evidence that genetic variation of the GRM4 gene confers susceptibility to JME-related IGE syndromes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1552-4841
pubmed:author
pubmed:copyrightInfo
Copyright 2003 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
123B
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
59-63
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy.
pubmed:affiliation
Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnologies, Brescia University Medical School, Brescia, Italy.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't