Genomic screen and follow-up analysis for autistic disorder
Article first published online: 5 DEC 2001
Copyright © 2001 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 114, Issue 1, pages 99–105, 8 January 2002
How to Cite
Shao, Y., Wolpert, C. M., Raiford, K. L., Menold, M. M., Donnelly, S. L., Ravan, S. A., Bass, M. P., McClain, C., von Wendt, L., Vance, J. M., Abramson, R. H., Wright, H. H., Ashley-Koch, A., Gilbert, J. R., DeLong, R. G., Cuccaro, M. L. and Pericak-Vance, M. A. (2002), Genomic screen and follow-up analysis for autistic disorder. Am. J. Med. Genet., 114: 99–105. doi: 10.1002/ajmg.10153
- Issue published online: 23 OCT 2002
- Article first published online: 5 DEC 2001
- Manuscript Accepted: 24 SEP 2001
- Manuscript Received: 21 MAY 2001
- NIH. Grant Numbers: NS26630, HD36701, NS36768
- National Alliance of Autism Research (NAAR)
- genomic screen;
- autistic disorder
Autistic disorder (AutD) is a neurodevelopmental disorder characterized by significant impairment in social, communicative, and behavioral functioning. A genetic basis for AutD is well established with as many as 10 genes postulated to contribute to its underlying etiology. We have completed a genomic screen and follow-up analysis to identify potential AutD susceptibility loci. In stage one of the genome screen, 52 multiplex families (two or more AutD affected individuals/family) were genotyped with 352 genetic markers to yield an approximately 10 centimorgan (cM) grid, inclusive of the X chromosome. The selection criterion for follow-up of interesting regions was a maximum heterogeneity lod score (MLOD) or a maximum nonparametric sib pair lod score (MLS) of at least 1.0. Eight promising regions were identified on chromosomes 2, 3, 7, 15, 18, 19, and X. In the stage two follow-up study we analyzed an additional 47 multiplex families (total = 99 families). Regions on chromosomes 2, 3, 7, 15, 19, and X remained interesting (MLOD ≥ 1.0) in stage two analysis. The peak lod score regions on chromosomes 2, 7, 15, 19, and X overlap previously reported peak linkage areas. The region on chromosome 3 is unique. © 2001 Wiley-Liss, Inc.