Published in
Oxford University Press, Human Molecular Genetics, 15(18), p. 2912-2921, 2009
DOI: 10.1093/hmg/ddp229
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- Oxford University Press
- [www.ncbi.nlm.nih.gov] | PDF
- [www.julkari.fi]
- [www.julkari.fi]
- [europepmc.org] | PDF
- [www.researchgate.net] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
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Linkage and Linkage Disequilibrium Scan for Autism Loci in an Extended Pedigree from Finland
,
Tero Ylisaukko-Oja,
Karola Rehnström,
Emilia Gaál,
Turunen Ja,
Joni A. Turunen,
Elli Kempas,
Lennart von Wendt,
Teppo Varilo,
Leena Peltonen
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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. 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.