Journal Article

Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland

Helena Kilpinen, Tero Ylisaukko-oja, Karola Rehnström, Emilia Gaál, Joni A. Turunen, Elli Kempas, Lennart von Wendt, Teppo Varilo and Leena Peltonen

in Human Molecular Genetics

Volume 18, issue 15, pages 2912-2921
Published in print August 2009 | ISSN: 0964-6906
Published online May 2009 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddp229
Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland

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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 (LD). 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 LD 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–q13. Most promising candidate genes were TLE2 and TLE6 clustered at 19p13 and ATP1A2 at 1q23.

Journal Article.  6631 words.  Illustrated.

Subjects: Genetics and Genomics

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