A genomewide screen for autism susceptibility loci

Liu, J.*, Nyholt, D.R., Magnussen, P., Parano, E., Pavone, P., Geschwind, D., Lord, C., Iversen, P., Hoh, J., Ott, J., & Gilliam, T. C. (2001) A genomewide screen for autism susceptibility loci. American Journal of Human Genetics, 69(2), pp. 327-40.

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We report the analysis of 335 microsatellite markers genotyped in 110 multiplex families with autism. All families include at least two "affected" siblings, at least one of whom has autism; the remaining affected sibs carry diagnoses of either Asperger syndrome or pervasive developmental disorder. Affected sib-pair analysis yielded multipoint maximum LOD scores (MLS) that reach the accepted threshold for suggestive linkage on chromosomes 5, X, and 19. Nominal evidence for linkage (point-wise P<.05) was obtained on chromosomes 2, 3, 4, 8, 10, 11, 12, 15, 16, 18, and 20, and secondary loci were found on chromosomes 5 and 19. Analysis of families sharing alleles at the putative X chromosomal linked locus and one or more other putative linked loci produced an MLS of 3.56 for the DXS470-D19S174 marker combination. In an effort to increase power to detect linkage, scan statistics were used to evaluate the significance of peak LOD scores based on statistical evidence at adjacent marker loci. This analysis yielded impressive evidence for linkage to autism and autism-spectrum disorders with significant genomewide P values <.05 for markers on chromosomes 5 and 8 and with suggestive linkage evidence for a marker on chromosome 19.

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ID Code: 92178
Item Type: Journal Article
Refereed: Yes
Additional Information: Liu, J Nyholt, D R Magnussen, P Parano, E Pavone, P Geschwind, D Lord, C Iversen, P Hoh, J Ott, J Gilliam, T C eng E.0811/Telethon/Italy 2001/07/14 10:00 Am J Hum Genet. 2001 Aug;69(2):327-40. Epub 2001 Jul 10.
Keywords: Asperger Syndrome/genetics, Autistic Disorder/*genetics, Child, *Chromosome Mapping, Chromosomes, Human, Pair 19/genetics, Chromosomes, Human, Pair 5/genetics, Developmental Disabilities/genetics, Female, Genetic Linkage/*genetics, Genetic Predisposition to Disease/*genetics, Genetic Testing, Genotype, Humans, Lod Score, Male, Microsatellite Repeats/genetics, Molecular Sequence Data, Nuclear Family, X Chromosome/genetics
DOI: 10.1086/321980
ISSN: 0002-9297
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2001 The American Society of Human Genetics
Deposited On: 27 Jan 2016 05:43
Last Modified: 27 Jan 2016 05:45

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