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Original Paper

Evidence for Linkage on Chromosome 3q25–27 in a Large Autism Extended Pedigree

Coon H.a · Matsunami N.b · Stevens J.b · Miller J.a · Pingree C.a · Camp N.J.c · Thomas A.c · Krasny L.a · Lainhart J.a · Leppert M.F.b · McMahon W.a

Author affiliations

aNeurodevelopmental Genetics Project, Department of Psychiatry, bDepartment of Human Genetics, and cGenetic Epidemiology, Department of Medical Informatics, University of Utah, Salt Lake City, Utah, USA

Related Articles for ""

Hum Hered 2005;60:220–226

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: May 26, 2005
Accepted: October 21, 2005
Published online: February 03, 2006
Issue release date: February 2006

Number of Print Pages: 7
Number of Figures: 2
Number of Tables: 1

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: https://www.karger.com/HHE

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.

© 2005 S. Karger AG, Basel


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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: May 26, 2005
Accepted: October 21, 2005
Published online: February 03, 2006
Issue release date: February 2006

Number of Print Pages: 7
Number of Figures: 2
Number of Tables: 1

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: https://www.karger.com/HHE


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