title: Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism.
abstract: Chromosomal region 15q11-q13 has been implicated to harbor a susceptibility gene or genes underlying autism. Evidence has been derived from the existence of cytogenetic anomalies in this region associated with autism, and the report of linkage in a modest collection of multiplex families. Most recently, linkage disequilibrium with the marker GABRB3-155CA2 in the candidate locus GABRB3, located in this region, has been reported. We searched for linkage using eight microsatellite markers located in this region of chromosome 15 in 147 affected sib-pairs from 139 multiplex autism families. We also tested for linkage disequilibrium in the same set of families with the same markers. We found no evidence for excess allele sharing (linkage) for the markers in this region. Also, we found no evidence of linkage disequilibrium, including for the locus GABRB3-155CA2. Thus, it appears that the role of this region of chromosome 15 is minor, at best, in the majority of individuals with autism.
authors.affiliation: Centre for Clinical Research in Neuropsychiatry, Graylands Hospital/University of Western Australia, Perth, Australia.
authors.forename: B
authors.initials: B
authors.lastname: Salmon
authors.forename: J
authors.initials: J
authors.lastname: Hallmayer
authors.forename: T
authors.initials: T
authors.lastname: Rogers
authors.forename: L
authors.initials: L
authors.lastname: Kalaydjieva
authors.forename: P B
authors.initials: PB
authors.lastname: Petersen
authors.forename: P
authors.initials: P
authors.lastname: Nicholas
authors.forename: C
authors.initials: C
authors.lastname: Pingree
authors.forename: W
authors.initials: W
authors.lastname: McMahon
authors.forename: D
authors.initials: D
authors.lastname: Spiker
authors.forename: L
authors.initials: L
authors.lastname: Lotspeich
authors.forename: H
authors.initials: H
authors.lastname: Kraemer
authors.forename: P
authors.initials: P
authors.lastname: McCague
authors.forename: S
authors.initials: S
authors.lastname: Dimiceli
authors.forename: N
authors.initials: N
authors.lastname: Nouri
authors.forename: T
authors.initials: T
authors.lastname: Pitts
authors.forename: J
authors.initials: J
authors.lastname: Yang
authors.forename: D
authors.initials: D
authors.lastname: Hinds
authors.forename: R M
authors.initials: RM
authors.lastname: Myers
authors.forename: N
authors.initials: N
authors.lastname: Risch
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D005190:Family; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D018895:Microsatellite Repeats