Skip Navigation



Human Molecular Genetics Advance Access published online on May 19, 2009
Human Molecular Genetics, doi:10.1093/hmg/ddp229
This Article
Right arrow FREE Full Text (PDF) Freely available
Right arrow Supplementary Data
Right arrow All Versions of this Article:
18/15/2912    most recent
ddp229v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Kilpinen, H.
Right arrow Articles by Peltonen, L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kilpinen, H.
Right arrow Articles by Peltonen, L.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author 2009. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Linkage and Linkage Disequilibrium Scan for Autism Loci in an Extended Pedigree from Finland

Helena Kilpinen1, Tero Ylisaukko-oja1,2, Karola Rehnström1,2, Emilia Gaál1, Joni A. Turunen1, Elli Kempas1, Lennart von Wendt3, Teppo Varilo1,2 and Leena Peltonen1,2,4,5,*

1 Institute for Molecular Medicine, Finland (FIMM) and Department of Molecular Medicine, National Public Health Institute, Biomedicum, Haartmaninkatu 8, 00251 Helsinki, Finland 2 Department of Medical Genetics, University of Helsinki, Biomedicum, Haartmaninkatu 8, 00251 Helsinki, Finland 3 Unit of Child Neurology, Hospital for Children and Adolescents, Lastenlinnantie 2, 00029 HUS, Helsinki, Finland 4 The Broad Institute, MIT and Harvard University, 7 Cambridge Center, Cambridge, MA 02141-2023, USA 5 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK

* Correspondig author: Professor Leena Peltonen, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK; tel: +44-0-1223-496845, fax: +44 1223 496826, e-mail: leena{at}sanger.ac.uk and leena.peltonen{at}thl.fi

Received February 17, 2009; Revised May 11, 2009; Accepted May 11, 2009

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. 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 linkage disequilibrium, 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 15q11-13. Most promising candidate genes were TLE2 and TLE6 genes clustered at 19p13 and ATP1A2 at 1q23.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.