| Literature DB >> 16391490 |
Hilary Coon1, Nori Matsunami, Jeff Stevens, Judith Miller, Carmen Pingree, Nicola J Camp, Alun Thomas, Lori Krasny, Janet Lainhart, Mark F Leppert, William McMahon.
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. Copyright (c) 2005 S. Karger AG, BaselEntities:
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Year: 2006 PMID： 16391490 DOI： 10.1159/000090546
Source DB: PubMed Journal: Hum Hered ISSN： 0001-5652 Impact factor: 0.444