title: Evidence for linkage on chromosome 3q25-27 in a large autism extended pedigree.
abstract: Though autism shows strong evidence for genetic etiology, specific genes have not yet been found. We tested for linkage in a candidate region on chromosome 3q25-27 first identified in Finnish autism families [1]. The peak in this previous study was at D3S3037 (183.9 cM). We tested this region in seven affected family members and 24 of their relatives from a single large extended Utah pedigree of Northern European ancestry. A total of 70 single nucleotide polymorphisms (SNPs) were analyzed from 165 to 204 cM. The maximum NPL-all nonparametric score using SimWalk2snp was 3.53 (empirical p val ue = 0.0003) at 185.2 cM (SNP rs1402229), close to the Finnish peak. A secondary analysis using MCLINK supported this result, with a maximum of 3.92 at 184.6 cM (SNP rs1362645). We tested for alterations in a candidate gene in this region, the fragile X autosomal homolog, FXR1. No variants likely to contribute to autism were found in the coding sequence, exon-intron boundaries, or the promoter region of this gene.
authors.affiliation: Neurodevelopmental Genetics Project, Department of Psychiatry, University of Utah, Salt Lake City, Utah 84108, USA. hilary@bach.med.utah.edu
authors.forename: Hilary
authors.initials: H
authors.lastname: Coon
authors.forename: Nori
authors.initials: N
authors.lastname: Matsunami
authors.forename: Jeff
authors.initials: J
authors.lastname: Stevens
authors.forename: Judith
authors.initials: J
authors.lastname: Miller
authors.forename: Carmen
authors.initials: C
authors.lastname: Pingree
authors.forename: Nicola J
authors.initials: NJ
authors.lastname: Camp
authors.forename: Alun
authors.initials: A
authors.lastname: Thomas
authors.forename: Lori
authors.initials: L
authors.lastname: Krasny
authors.forename: Janet
authors.initials: J
authors.lastname: Lainhart
authors.forename: Mark F
authors.initials: MF
authors.lastname: Leppert
authors.forename: William
authors.initials: W
authors.lastname: McMahon
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping / Q000379:methods; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D016601:RNA-Binding Proteins / Q000235:genetics; D014589:Utah; D044465:White People
chemical_list: C096916:FXR1 protein, human; D016601:RNA-Binding Proteins