Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2002-9-4
pubmed:abstractText
A recent genome-wide scan showed strong evidence for a major locus for common syndromes of idiopathic generalized epilepsy (IGE) at the marker D18S474 on chromosome 18q21.1 (LOD score 4.5/5.2 multipoint/two-point). The present replication study tested the presence of an IGE locus in the chromosomal region 18q21.1. Our linkage study included 130 multiplex families of probands with common IGE syndromes. Eleven microsatellite polymorphisms encompassing a candidate region of 30 cM on either side of the marker D18S474 were genotyped. The two-point homogeneity LOD score for D18S474 showed strong evidence against linkage at the original linkage peak (Z = -18.86 at theta(m = f) = 0.05), assuming a recessive mode of inheritance with 50% penetrance. Multipoint parametric heterogeneity LOD scores < -2 were obtained along the candidate region when proportions of linked families greater than 35% were assumed under recessive inheritance. Furthermore, non-parametric multipoint linkage analyses showed no hint of linkage throughout the candidate region (P > 0.19). Accordingly, we failed to support evidence for a major IGE locus in the chromosomal region 18p11-18q23. If there is a susceptibility locus for IGE in this region then the size of the effect or the proportion of linked families is too small to detect linkage in the investigated family sample.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0148-7299
pubmed:author
pubmed:copyrightInfo
Copyright 2002 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
8
pubmed:volume
114
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
673-8
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:12210286-Adolescent, pubmed-meshheading:12210286-Adult, pubmed-meshheading:12210286-Age of Onset, pubmed-meshheading:12210286-Child, pubmed-meshheading:12210286-Chromosome Mapping, pubmed-meshheading:12210286-Chromosomes, Human, Pair 18, pubmed-meshheading:12210286-Disease Susceptibility, pubmed-meshheading:12210286-Epilepsies, Myoclonic, pubmed-meshheading:12210286-Epilepsy, Generalized, pubmed-meshheading:12210286-Female, pubmed-meshheading:12210286-Genetic Linkage, pubmed-meshheading:12210286-Genetic Markers, pubmed-meshheading:12210286-Genetic Predisposition to Disease, pubmed-meshheading:12210286-Humans, pubmed-meshheading:12210286-Lod Score, pubmed-meshheading:12210286-Male, pubmed-meshheading:12210286-Microsatellite Repeats, pubmed-meshheading:12210286-Models, Genetic, pubmed-meshheading:12210286-Nuclear Family, pubmed-meshheading:12210286-Polymorphism, Genetic
pubmed:year
2002
pubmed:articleTitle
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1.
pubmed:affiliation
Epilepsy Genetics Group, Department of Neurology, University Clinic Charité, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany. Sanderth@aol.com
pubmed:publicationType
Journal Article