title: Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland.
abstract: Population isolates, such as Finland, have proved beneficial in mapping rare causative genetic variants due to a limited number of founders resulting in reduced genetic heterogeneity and extensive linkage disequilibrium (LD). We have here used this special opportunity to identify rare alleles in autism by genealogically tracing 20 autism families into one extended pedigree with verified genealogical links reaching back to the 17th century. In this unique pedigree, we performed a dense microsatellite marker genome-wide scan of linkage and LD and followed initial findings with extensive fine-mapping. We identified a putative autism susceptibility locus at 19p13.3 and obtained further evidence for previously identified loci at 1q23 and 15q11-q13. Most promising candidate genes were TLE2 and TLE6 clustered at 19p13 and ATP1A2 at 1q23.
authors.affiliation: Department of Molecular Medicine, Institute for Molecular Medicine, Finland.
authors.forename: Helena
authors.initials: H
authors.lastname: Kilpinen
authors.forename: Tero
authors.initials: T
authors.lastname: Ylisaukko-oja
authors.forename: Karola
authors.initials: K
authors.lastname: Rehnström
authors.forename: Emilia
authors.initials: E
authors.lastname: Gaál
authors.forename: Joni A
authors.initials: JA
authors.lastname: Turunen
authors.forename: Elli
authors.initials: E
authors.lastname: Kempas
authors.forename: Lennart
authors.initials: L
authors.lastname: von Wendt
authors.forename: Teppo
authors.initials: T
authors.lastname: Varilo
authors.forename: Leena
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D005260:Female; D005387:Finland; D055106:Genome-Wide Association Study; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D044465:White People / Q000235:genetics